A new KLF13 loss-of-function mutation responsible for sporadic dilated cardiomyopathy.

Συγγραφείς: Tang X; Department of Cardiology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, 1111 Xianxia Road, Shanghai, 200336, China., Wang Y; Department of Cardiology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, 1111 Xianxia Road, Shanghai, 200336, China., Yang CX; Department of Cardiology, Shanghai Fifth People's Hospital, Fudan University, 801 Heqing Road, Shanghai, 200240, China., Ke ZP; Department of Geriatrics, Shanghai Fifth People's Hospital, Fudan University, 801 Heqing Road, Shanghai, 200240, China., Yuan F; Department of Cardiac Intensive Medicine, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, 1111 Xianxia Road, Shanghai, 200336, China., Yang YQ; Department of Cardiology, Shanghai Fifth People's Hospital, Fudan University, 801 Heqing Road, Shanghai, 200240, China.; Department of Cardiovascular Research Laboratory, Shanghai Fifth People's Hospital, Fudan University, 801 Heqing Road, Shanghai, 200240, China.; Department of Central Laboratory, Shanghai Fifth People's Hospital, Fudan University, 801 Heqing Road, Shanghai, 200240, China., Xu YJ; Department of Cardiology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, 1111 Xianxia Road, Shanghai, 200336, China. xyj1797@shtrhospital.com.

Πηγή: Molecular biology reports [Mol Biol Rep] 2025 Nov 07; Vol. 53 (1), pp. 62. Date of Electronic Publication: 2025 Nov 07.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Cardiomyopathy, Dilated*/genetics , Loss of Function Mutation*/genetics , Repressor Proteins*/genetics , Repressor Proteins*/metabolism, Humans ; Female ; Male ; Adult ; Middle Aged ; Genetic Predisposition to Disease ; Myosin Heavy Chains/genetics ; Mutation ; Case-Control Studies ; Cardiac Myosins/genetics

A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASIL.

Συγγραφείς: Ouskri A; Department of Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco. amal.ouskri@usmba.ac.ma.; Sidi Mohamed Ben Abdellah University, Fez, Morocco. amal.ouskri@usmba.ac.ma., Ihlal H; Department of Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco. hajar.ihlal@usmba.ac.ma.; Sidi Mohamed Ben Abdellah University, Fez, Morocco. hajar.ihlal@usmba.ac.ma., En-Nasery Z; Department of radiology, Hassan II University Hospital, Fez, Morocco.; Sidi Mohamed Ben Abdellah University, Fez, Morocco., Chaouki S; Department of pediatrics, Hassan II University Hospital, Fez, Morocco.; Sidi Mohamed Ben Abdellah University, Fez, Morocco., Bouguenouch L; Department of Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco.; Sidi Mohamed Ben Abdellah University, Fez, Morocco., Ouldim K; Department of Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco.; Sidi Mohamed Ben Abdellah University, Fez, Morocco., Launay E; Cytogenetics and Cell Biology Department, Rennes University Hospital, 35000, Rennes, France., Mary L; Cytogenetics and Cell Biology Department, Rennes University Hospital, 35000, Rennes, France., Lokchine A; Cytogenetics and Cell Biology Department, Rennes University Hospital, 35000, Rennes, France.; Inserm, Irset (Research Institute for Environmental and Occupational Health) - UMR_S 1085, University of Rennes, 35000, Rennes, France., Jaillard S; Cytogenetics and Cell Biology Department, Rennes University Hospital, 35000, Rennes, France.; Inserm, Irset (Research Institute for Environmental and Occupational Health) - UMR_S 1085, University of Rennes, 35000, Rennes, France.

Πηγή: Neurogenetics [Neurogenetics] 2025 Nov 06; Vol. 26 (1), pp. 80. Date of Electronic Publication: 2025 Nov 06.

Τύπος έκδοσης: Journal Article; Case Reports

Στοιχεία περιοδικού: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Receptor, Notch3*/genetics , CADASIL*/genetics , Loss of Function Mutation*, Humans ; Female ; Child ; Homozygote ; Morocco ; Pedigree ; Consanguinity ; Exome Sequencing

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Συγγραφείς: Erkut E; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Somerville C; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Schwartz MLB; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., McDonald L; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada., Ding Q; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Moran OM; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Chen X; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Manshaei R; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Riedijk AS; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada., Schnürer MT; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA., Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Bedoukian EC; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Conlin LK; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cox H; Birmingham Women's and Children's Hospital, Birmingham, UK., Diderich KEM; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Dingmann B; Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Dubourg C; Service de Génétique Moléculaire et Génomique, CHU Pontchaillou, Rennes, France., Elmslie F; St George's University Hospitals NHS Foundation Trust, London, UK., Escobar LF; Medical Genetics, Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA., Gosselin R; Division of Genetic and Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA., Guillen Sacoto MJ; GeneDx LLC, Gaithersburg, MD, USA., Haag CD; Medical Genetics, Ascension St. Vincent, Indianapolis, IN, USA., Herzig L; Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Jeeneea R; Birmingham Women's and Children's Hospital, Birmingham, UK., Kenia P; Birmingham Women's and Children's NHS Trust, Birmingham, UK., Kolokotronis K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Kopps AM; Genetica AG, Zurich, Switzerland., Kupper C; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Lees H; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Leonard J; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Levy J; Genetics Department, AP-HP, Robert Debré University Hospital, Paris, France., Littlejohn R; Baylor College of Medicine, Houston, TX, USA., Mayer D; Genetica AG, Zurich, Switzerland., McLean SD; Baylor College of Medicine, Houston, TX, USA., Pattani N; St George's University Hospitals NHS Foundation Trust, London, UK., Perrin L; Genetics Department, AP-HP, Robert Debré University Hospital, Paris, France., Pingault V; Service de Médecine Génomique des Maladies Rares, AP-HP, Hôpital Necker, Université Paris Cité, Paris, France., Quelin C; Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Rennes, France., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Reichert SL; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rosmaninho-Salgado J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Skraban C; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sousa S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Stuebben M; Baylor College of Medicine, Houston, TX, USA., Zanoni P; Genetica AG, Zurich, Switzerland; Luzerner Kantonsspital, Lucerne, Switzerland., Kim RH; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Department of Medicine, University Health Network, Toronto, ON, Canada., Scott IC; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Electronic address: ian.scott@sickkids.ca., Jobling RK; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: rebekah.jobling@sickkids.ca.

Πηγή: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2625-2642. Date of Electronic Publication: 2025 Sep 30.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Eukaryotic Initiation Factor-3*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Craniofacial Abnormalities*/genetics , Craniofacial Abnormalities*/pathology , Heart Defects, Congenital*/genetics , Loss of Function Mutation*/genetics, Humans ; Animals ; Zebrafish/genetics ; Male ; Female ; Child ; Child, Preschool ; Infant ; Phenotype

Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant.

Συγγραφείς: Maino A; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France., Chevallier M; Neonatology Unit, Grenoble University Hospital, F-38000 Grenoble, France., Giovannini D; Department of Pathology and Cytology, Grenoble-Alpes University Hospital, Grenoble, France., Leger M; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France., Coston AL; Department of Gynecology and Obstetrics, University Hospital Grenoble Alpes, 38700, La Tronche, France., Roux-Buisson N; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France., Testard H; Centre de Compétence des Maladies Neuromusculaires PACARARE, Neuropédiatrie, Clinique Universitaire Pédiatrique, Hôpital Couple Enfant - CHU Grenoble, Grenoble, France., Thevenon J; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France., Marty I; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France., Fauré J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France., Dieterich K; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France., Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000 Grenoble, France.

Πηγή: Journal of neuromuscular diseases [J Neuromuscul Dis] 2025 Nov; Vol. 12 (6), pp. 849-853. Date of Electronic Publication: 2025 Jun 25.

Τύπος έκδοσης: Journal Article; Case Reports

Στοιχεία περιοδικού: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Muscle Hypotonia*/genetics , Loss of Function Mutation*, Humans ; Female ; Infant, Newborn ; Male ; Homozygote ; Pedigree

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia.

Συγγραφείς: Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK., Spoto G; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.; Department of Biomedical Sciences, Dental Sciences & Morpho-Functional Imaging, University of Messina, Messina, Italy., Moualek D; Service de Neurologie, CHU Mustapha Bacha, Alger, Algeria.; Université Benyoucef Benkhedda, Alger, Algeria., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Biswas A; Pediatric Neuroradiology Unit, Radiology Department, Great Ormond Street Hospital for Children, London, UK., D'Arco F; Pediatric Neuroradiology Unit, Radiology Department, Great Ormond Street Hospital for Children, London, UK., Biglari S; Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran., Nikuei P; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran., Gleeson JG; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, California, USA., Tazir M; Service de Neurologie, CHU Mustapha Bacha, Alger, Algeria.; Université Benyoucef Benkhedda, Alger, Algeria., Ali Pacha L; Service de Neurologie, CHU Mustapha Bacha, Alger, Algeria.; Université Benyoucef Benkhedda, Alger, Algeria., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.

Πηγή: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2025 Nov; Vol. 40 (11), pp. 2531-2537. Date of Electronic Publication: 2025 Aug 04.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Ankyrins*/genetics , Cerebellar Ataxia*/genetics , Neurodevelopmental Disorders*/genetics , Loss of Function Mutation*/genetics, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Pedigree ; Developmental Disabilities/genetics ; Cerebellum/diagnostic imaging ; Cerebellum/pathology ; Phenotype

Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus.

Συγγραφείς: Wang Q; Liangzhu Laboratory, Zhejiang University, Hangzhou, China., Zhu H; Liangzhu Laboratory, Zhejiang University, Hangzhou, China., Sun X; Liangzhu Laboratory, Zhejiang University, Hangzhou, China., Zhang C; National Clinical Research Center of Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Ma S; Liangzhu Laboratory, Zhejiang University, Hangzhou, China., Jin Y; National Clinical Research Center of Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China., Fu J; Life Sciences Institute, Zhejiang University, Hangzhou, China., Liu C; Life Sciences Institute, Zhejiang University, Hangzhou, China., Peng J; Liangzhu Laboratory, Zhejiang University, Hangzhou, China., Wang R; Liangzhu Laboratory, Zhejiang University, Hangzhou, China., Liu L; Urology and Nephrology Center, Department of Nephrology, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China., Zeng Y; Liangzhu Laboratory, Zhejiang University, Hangzhou, China., Gong C; Liangzhu Laboratory, Zhejiang University, Hangzhou, China., Zhou Q; Liangzhu Laboratory, Zhejiang University, Hangzhou, China. zhouqingnwu@gmail.com.; Life Sciences Institute, Zhejiang University, Hangzhou, China. zhouqingnwu@gmail.com.; Department of Rheumatology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China. zhouqingnwu@gmail.com., Yu X; Liangzhu Laboratory, Zhejiang University, Hangzhou, China. yuxiaomin@zju.edu.cn., Liu Z; Liangzhu Laboratory, Zhejiang University, Hangzhou, China. liuzhihong@zju.edu.cn.; National Clinical Research Center of Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China. liuzhihong@zju.edu.cn.

Πηγή: Nature [Nature] 2025 Nov; Vol. 647 (8089), pp. 498-505. Date of Electronic Publication: 2025 Sep 10.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Lupus Erythematosus, Systemic*/genetics , Lupus Erythematosus, Systemic*/immunology , Lupus Erythematosus, Systemic*/drug therapy , Lupus Erythematosus, Systemic*/enzymology , Lupus Erythematosus, Systemic*/pathology , Loss of Function Mutation*/genetics , Phospholipase D*/genetics , Phospholipase D*/deficiency , Phospholipase D*/metabolism, Humans ; Animals ; Mice ; Female ; Azetidines/pharmacology ; Azetidines/therapeutic use ; Male ; Purines/pharmacology ; Purines/therapeutic use ; Sulfonamides/pharmacology ; Sulfonamides/therapeutic use ; Dendritic Cells/immunology ; Dendritic Cells/metabolism ; Pyrazoles/pharmacology ; Pyrazoles/therapeutic use ; Toll-Like Receptor 7/metabolism ; Toll-Like Receptor 7/immunology ; Signal Transduction ; Toll-Like Receptor 9/metabolism ; Toll-Like Receptor 9/immunology ; Adult ; Interferon Type I/immunology ; Interferon Type I/metabolism ; Autoimmunity/genetics

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.

Συγγραφείς: Hussain HMJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Meng W; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA., Li Y; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA., Firasat S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Pennesi ME; Retina Foundation of the Southwest, Southwest, Dallas, Texas, USA.; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Gorin MB; Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California, USA.; Department of Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA., Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Clark RL; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Fale-Olsen E; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Al Rawi R; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Agather A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Yang P; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Matynia A; College of Optometry, University of Houston, Houston, Texas, USA., Chen R; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA ruic20@hs.uci.edu.

Πηγή: Journal of medical genetics [J Med Genet] 2025 Oct 20; Vol. 62 (11), pp. 693-699. Date of Electronic Publication: 2025 Oct 20.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Retinal Degeneration*/genetics , Retinal Degeneration*/pathology , Loss of Function Mutation*/genetics , Genetic Predisposition to Disease*, Humans ; Male ; Female ; Middle Aged ; Exome Sequencing ; Pedigree ; Adult ; Alleles ; Tomography, Optical Coherence ; Electroretinography ; Phenotype ; Whole Genome Sequencing

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Συγγραφείς: Dominik N; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Record CJ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Miao X; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada., Lin RQ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Parmar JM; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia., Scardamaglia A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Lowe SA; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom., Aughey GN; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom., Wilson AD; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom., Curro R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Schnekenberg RP; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Alavi S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Leclaire L; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada., He Y; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada., Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Bellaïche Y; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France., Gaugué I; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France., Skorupinska M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Turchetti V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Güngör S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey., Monahan GV; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia., Ghayoor Karimiani E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom., Jamshidi Y; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom., Lamont PJ; Royal Perth Hospital, Perth, Western Australia, Australia., Armirola-Ricaurte C; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey., Jordanova A; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria., Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Marques W; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil., Aynekin B; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey., Cansu A; Department of Pediatric Neurology, Faculty of Medicine, Farabi Hospital, Karadeniz Technical University, Trabzon, Turkey., Per H; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey., Güleç A; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey., Alvi JR; Children's Hospital & the Institute of Child Health, Lahore, Pakistan., Sultan T; Children's Hospital & the Institute of Child Health, Lahore, Pakistan., Khan A; Neuropedia Children's Neuroscience Center, Dubai, United Arab Emirates.; Fakeeh University Hospital, Dubai, United Arab Emirates.; Kids Neuro Clinic, Dubai, United Arab Emirates., Zifarelli G; CENTOGENE GmbH, Rostock, Germany., Ibrahim S; Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan., Mancini GMS; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands., Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Brusse E; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands., Lupo V; Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Sevilla T; Hospital Universitari i Politècnic La Fe & IIS La Fe, Neuromuscular Diseases Unit, Department of Neurology, Valencia, Spain.; Universitat de València, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Başak AN; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Tekgul S; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Palvadeau RJ; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Baets J; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Parman Y; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Çakar A; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Haack TB; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics., Stahl JH; Department of Epileptology, Center of Neurology, and.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Grundmann-Hauser K; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics., Park J; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics., Zuchner S; John P. Hussman Institute for Human Genomics and.; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA., Laing NG; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia., Wilson LA; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Polke J; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom., Figueiredo FB; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil., Pessoa A; Universidade Federal Do Ceara - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil., Kok F; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil., Coimbra-Neto AR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Department of Neurology, School of Medicine, Centro Universitário Uninovafapi - UNINOVAFAPI, Teresina, Piauí, Brazil., Franca MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil., Ravenscroft G; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia., Hamed SA; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University, Assiut, Egypt., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Pittman AM; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom., Osborn DP; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom., Hanna M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Jepson JE; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom., Lamarche-Vane N; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.

Πηγή: The Journal of clinical investigation [J Clin Invest] 2025 Oct 14; Vol. 135 (23). Date of Electronic Publication: 2025 Oct 14 (Print Publication: 2025).

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Ιατρικοί όροι (MeSH): GTPase-Activating Proteins*/genetics , GTPase-Activating Proteins*/metabolism , Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/metabolism , Charcot-Marie-Tooth Disease*/pathology , Alleles* , Loss of Function Mutation*, Humans ; Animals ; Zebrafish/genetics ; Drosophila melanogaster/genetics ; Female ; Male ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism ; rhoA GTP-Binding Protein/genetics ; rhoA GTP-Binding Protein/metabolism

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Συγγραφείς: Zhou Y; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Jiang T; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Gao J; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Zang J; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Mo X; Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China., Yue S; Department of Developmental Genetics, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Cui Y; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Wang Q; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Da M; Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China., Xu J; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China., Li Q; Department of Cardiovascular Center, The Second Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, 210003, China., Shen B; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Dai J; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; State Key Laboratory of Reproductive Medicine and Offspring Health (Suzhou Centre), The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou 215002, China., Ma H; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Jin G; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Shen H; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Wang C; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Gu Y; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; State Key Laboratory of Reproductive Medicine and Offspring Health (Suzhou Centre), The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou 215002, China., Lin Y; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China., Hu Z; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.; State Key Laboratory of Reproductive Medicine and Offspring Health (Suzhou Centre), The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou 215002, China.; Key Laboratory of Targeted Intervention of Cardiovascular Disease, Collaborative Innovation Center for Cardiovascular Disease Translational Medicine, Nanjing Medical University, Nanjing, Jiangsu 210000, China.

Πηγή: Science advances [Sci Adv] 2025 Oct 10; Vol. 11 (41), pp. eadt0836. Date of Electronic Publication: 2025 Oct 10.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Tetralogy of Fallot*/genetics , Tetralogy of Fallot*/pathology , Tetralogy of Fallot*/metabolism , Cilia*/genetics , Cilia*/metabolism , Genetic Predisposition to Disease* , Loss of Function Mutation*, Humans ; Animals ; Mice ; Female ; Male ; Homeobox Protein Nkx-2.5/genetics ; Homeobox Protein Nkx-2.5/metabolism ; GATA4 Transcription Factor/genetics ; GATA4 Transcription Factor/metabolism ; Disease Models, Animal ; High-Throughput Nucleotide Sequencing ; Myocytes, Cardiac/metabolism ; Signal Transduction ; Phenotype ; Hedgehog Proteins/metabolism

Epistasis at the cell surface: what is the role of Erg3 loss-of-function in acquired echinocandin resistance?

Συγγραφείς: Carolus H; Department of Biology, Laboratory of Molecular Cell Biology, KU Leuven, Leuven, Flanders, Belgium.; Département de Biochimie, de Microbiologie et de Bio-informatique, Faculté des Sciences et de Génie, Université Laval, Québec City, Canada.; Institut de Biologie Intégrative et des Systèmes (IBIS), Université Laval, Québec City, Canada.; PROTEO, Le regroupement québécois de recherche sur la fonction, l'ingénierie et les applications des protéines, Université Laval, Québec City, Canada.; Centre de Recherche en Infectiologie (CRI), Université Laval, Québec City, Canada., Díaz-García J; Clinical Microbiology and Infectious Diseases, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain., Biriukov V; Institute for Research in Biomedicine, Barcelona Institute of Science and Technology, Barcelona, Spain.; Barcelona Supercomputing Centre (BSC-CNS), Barcelona, Spain., Jacobs S; Department of Biology, Laboratory of Molecular Cell Biology, KU Leuven, Leuven, Flanders, Belgium., Sofras D; Department of Biology, Laboratory of Molecular Cell Biology, KU Leuven, Leuven, Flanders, Belgium., Pageau A; Département de Biochimie, de Microbiologie et de Bio-informatique, Faculté des Sciences et de Génie, Université Laval, Québec City, Canada.; Institut de Biologie Intégrative et des Systèmes (IBIS), Université Laval, Québec City, Canada.; PROTEO, Le regroupement québécois de recherche sur la fonction, l'ingénierie et les applications des protéines, Université Laval, Québec City, Canada.; Centre de Recherche en Infectiologie (CRI), Université Laval, Québec City, Canada., Lobo Romero C; Department of Biology, Laboratory of Molecular Cell Biology, KU Leuven, Leuven, Flanders, Belgium., Vinken L; Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Escribano P; Clinical Microbiology and Infectious Diseases, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Faculty of Health Sciences, HM Hospitals, Universidad Camilo José Cela, Madrid, Spain., Guinea J; Clinical Microbiology and Infectious Diseases, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Faculty of Health Sciences, HM Hospitals, Universidad Camilo José Cela, Madrid, Spain.; CIBER de Enfermedades Infecciosas, Instituto de Salud Carlos III, Madrid, Spain., Lagrou K; Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.; Department of Laboratory Medicine, National Reference Center for Mycosis, UZ Leuven, Leuven, Belgium., Landry CR; Département de Biochimie, de Microbiologie et de Bio-informatique, Faculté des Sciences et de Génie, Université Laval, Québec City, Canada.; Institut de Biologie Intégrative et des Systèmes (IBIS), Université Laval, Québec City, Canada.; PROTEO, Le regroupement québécois de recherche sur la fonction, l'ingénierie et les applications des protéines, Université Laval, Québec City, Canada.; Centre de Recherche en Infectiologie (CRI), Université Laval, Québec City, Canada., Gabaldón T; Institute for Research in Biomedicine, Barcelona Institute of Science and Technology, Barcelona, Spain.; Barcelona Supercomputing Centre (BSC-CNS), Barcelona, Spain.; CIBER de Enfermedades Infecciosas, Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., Van Dijck P; Department of Biology, Laboratory of Molecular Cell Biology, KU Leuven, Leuven, Flanders, Belgium.; KU Leuven One Health Institute, KU Leuven, Leuven, Belgium.

Πηγή: MBio [mBio] 2025 Oct 08; Vol. 16 (10), pp. e0141925. Date of Electronic Publication: 2025 Sep 09.

Τύπος έκδοσης: Journal Article; Case Reports

Στοιχεία περιοδικού: Publisher: American Society for Microbiology Country of Publication: United States NLM ID: 101519231 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2150-7511 (Electronic) NLM ISO Abbreviation: mBio Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Echinocandins*/pharmacology , Drug Resistance, Fungal*/genetics , Antifungal Agents*/pharmacology , Glucosyltransferases*/genetics , Glucosyltransferases*/metabolism , Fungal Proteins*/genetics , Fungal Proteins*/metabolism , Epistasis, Genetic* , Candida glabrata*/genetics , Candida glabrata*/drug effects , Candida glabrata*/enzymology , Loss of Function Mutation*, Humans ; Candidiasis/microbiology ; Candidiasis/drug therapy ; Cell Membrane

Effects of a novel loss-of-function waxy endosperm allele on sorghum seed development and grain quality.

Συγγραφείς: Dhiman P; Department of Plant and Soil Science, Institute of Genomics for Crop Abiotic Stress Tolerance (IGCAST), Texas Tech University, Lubbock, TX 79409  United States., Soumen S; Department of Plant and Soil Science, Institute of Genomics for Crop Abiotic Stress Tolerance (IGCAST), Texas Tech University, Lubbock, TX 79409  United States., Nigam D; Department of Plant and Soil Science, Institute of Genomics for Crop Abiotic Stress Tolerance (IGCAST), Texas Tech University, Lubbock, TX 79409  United States., Bean SR; Grain Quality and Structure Research Unit, Center for Grain and Animal Health Research, USDA-ARS, 1515 College Ave, Manhattan, KS 66502, United States., Wu X; Grain Quality and Structure Research Unit, Center for Grain and Animal Health Research, USDA-ARS, 1515 College Ave, Manhattan, KS 66502, United States., Patil GB; Department of Plant and Soil Science, Institute of Genomics for Crop Abiotic Stress Tolerance (IGCAST), Texas Tech University, Lubbock, TX 79409  United States., Xin Z; Plant Stress and Germplasm Development Unit, Crop Systems Research Laboratory, USDA-ARS, 3810, 4th Street, Lubbock, TX 79424  United States., Jiao Y; Department of Plant and Soil Science, Institute of Genomics for Crop Abiotic Stress Tolerance (IGCAST), Texas Tech University, Lubbock, TX 79409  United States.

Πηγή: G3 (Bethesda, Md.) [G3 (Bethesda)] 2025 Oct 08; Vol. 15 (10).

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Oxford University Press Country of Publication: England NLM ID: 101566598 Publication Model: Print Cited Medium: Internet ISSN: 2160-1836 (Electronic) Linking ISSN: 21601836 NLM ISO Abbreviation: G3 (Bethesda) Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Sorghum*/genetics , Sorghum*/metabolism , Sorghum*/growth & development , Endosperm*/genetics , Endosperm*/metabolism , Alleles* , Plant Proteins*/genetics , Plant Proteins*/metabolism , Seeds*/genetics , Seeds*/growth & development , Seeds*/metabolism , Edible Grain*/genetics , Edible Grain*/metabolism , Loss of Function Mutation*, Gene Expression Regulation, Plant ; Starch/metabolism ; Phenotype ; Amylose/metabolism ; Starch Synthase/genetics

Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function.

Συγγραφείς: Lu W; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, No. 419 Fangxie Road, Huangpu District, Shanghai 200011, China.; Institute of Medical Genetics and Development, Key Laboratory of Reproductive Genetics (Ministry of Education) and Women's Hospital, Zhejiang University School of Medicine, No. 1 Xueshi Road, Shangcheng District, Hangzhou, Zhejiang 310006, China., Li S; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, No. 910 Hengshan Road, Xuhui District, Shanghai 200030, China., Chen S; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, No. 419 Fangxie Road, Huangpu District, Shanghai 200011, China.; Obstetrics and Gynecology Hospital of Fudan University, No. 419 Fangxie Road, Huangpu District, Shanghai 200011, China., Yang B; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, No. 910 Hengshan Road, Xuhui District, Shanghai 200030, China., Qiu X; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, No. 419 Fangxie Road, Huangpu District, Shanghai 200011, China., Cao X; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, No. 419 Fangxie Road, Huangpu District, Shanghai 200011, China., Wang J; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, No. 910 Hengshan Road, Xuhui District, Shanghai 200030, China., Huang HF; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, No. 419 Fangxie Road, Huangpu District, Shanghai 200011, China.; Institute of Medical Genetics and Development, Key Laboratory of Reproductive Genetics (Ministry of Education) and Women's Hospital, Zhejiang University School of Medicine, No. 1 Xueshi Road, Shangcheng District, Hangzhou, Zhejiang 310006, China.; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, No. 910 Hengshan Road, Xuhui District, Shanghai 200030, China.; Research Units of Embryo Original Diseases, Chinese Academy of Medical Sciences, NO. 131 Dong'an Road, Xuhui District, Shanghai 200032, China.; Shanghai Frontiers Science Research Center of Reproduction and Development, NO. 131 Dong'an Road, Xuhui District, Shanghai 200032, China., Xu C; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, No. 419 Fangxie Road, Huangpu District, Shanghai 200011, China.; Obstetrics and Gynecology Hospital of Fudan University, No. 419 Fangxie Road, Huangpu District, Shanghai 200011, China., Zhang J; Institute of Medical Genetics and Development, Key Laboratory of Reproductive Genetics (Ministry of Education) and Women's Hospital, Zhejiang University School of Medicine, No. 1 Xueshi Road, Shangcheng District, Hangzhou, Zhejiang 310006, China.; Institute of Reproduction and Development, Fudan University, NO. 131 Dong'an Road, Xuhui District, Shanghai 200032, China.; School of Medicine, Shanghai Jiao Tong University, No. 227 South Chongqing Road, Huangpu District, Shanghai 200025, China.

Πηγή: Human molecular genetics [Hum Mol Genet] 2025 Oct 05; Vol. 34 (20), pp. 1705-1717.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Serine Endopeptidases*/genetics , Serine Endopeptidases*/metabolism , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Membrane Proteins*/genetics , Membrane Proteins*/metabolism , Synapses*/pathology , Synapses*/metabolism , Synapses*/genetics , Loss of Function Mutation*, Animals ; Humans ; Mice ; Mice, Knockout ; Female ; Male ; Pedigree

Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.

Συγγραφείς: Zhao G; Department of Andrology and Human Sperm Bank, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Ma J; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Zhang Y; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Wang Y; Reproduction Medical Center of West China Second University Hospital, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, China., Jiang C; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Shen G; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Li D; Department of Andrology and Human Sperm Bank, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Wang X; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Bai H; Department of Andrology and Human Sperm Bank, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Zheng Y; Department of Andrology and Human Sperm Bank, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Tian K; Department of Andrology and Human Sperm Bank, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Yue J; Department of Andrology and Human Sperm Bank, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China., Jiang X; Department of Andrology and Human Sperm Bank, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China. jxh424@126.com.; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China. jxh424@126.com.; NHC Key Laboratory of Chronobiology, Sichuan University, Chengdu, 610041, China. jxh424@126.com., Shen Y; Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China. yingcaishen01@163.com.; NHC Key Laboratory of Chronobiology, Sichuan University, Chengdu, 610041, China. yingcaishen01@163.com.

Πηγή: Human genetics [Hum Genet] 2025 Oct; Vol. 144 (9-10), pp. 971-982. Date of Electronic Publication: 2025 Aug 14.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Asthenozoospermia*/genetics , Asthenozoospermia*/pathology , Infertility, Male*/genetics , Infertility, Male*/pathology , Loss of Function Mutation*, Adult ; Humans ; Male ; Alleles ; Axonemal Dyneins/genetics ; Dyneins/genetics ; Exome Sequencing ; Sperm Tail/pathology ; Sperm Tail/metabolism ; Spermatozoa/pathology ; Spermatozoa/metabolism

Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.

Συγγραφείς: Zhou C; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041, China.; Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China., Tang F; Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China.; School of Medical Technology, Xinxiang Medical University, Xinxiang, Henan, 453003, China., Wang X; Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China., Mai J; Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China., Li R; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041, China. lirui@scu.edu.cn., Wang J; Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, 610041, China. hhwj_123@163.com.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China. hhwj_123@163.com.

Πηγή: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2025 Oct; Vol. 46 (10), pp. 5341-5350. Date of Electronic Publication: 2025 Aug 13.

Τύπος έκδοσης: Journal Article; Review; Case Reports

Στοιχεία περιοδικού: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Periventricular Nodular Heterotopia*/genetics , Periventricular Nodular Heterotopia*/diagnostic imaging , Microtubule-Associated Proteins*/genetics , Loss of Function Mutation*/genetics, Humans ; Female ; Male ; Genetic Association Studies ; Pedigree ; Adult ; Exome Sequencing

Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants.

Συγγραφείς: Thompson T; Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Accords, University of Colorado School of Medicine, Aurora, Colorado, USA., Gurfinkel D; Accords, University of Colorado School of Medicine, Aurora, Colorado, USA., Silveira L; Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA., Klamut N; Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA., Ferdinandsen K, Fu C; Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Ananth AL; Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Lane JB; Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Marsh ED; University of Pennsylvania Perelman School of Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Neul JL; Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Percy AK; Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Benke TA; Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Pharmacology, University of Colorado School of Medicine, Aurora, Colorado, USA.; Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.; Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado, USA.

Πηγή: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64147. Date of Electronic Publication: 2025 Jun 14.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Loss of Function Mutation* , Methyl-CpG-Binding Protein 2*/genetics , Rett Syndrome*/diagnosis , Rett Syndrome*/genetics, Humans ; Male ; Bias ; Delayed Diagnosis ; Genetic Testing ; Surveys and Questionnaires ; Caregivers/psychology ; Infant ; Child, Preschool ; Child

Loss-of-function mutations in ASIP and MC1R are associated with coat colour variation in marsupials.

Συγγραφείς: Sauermann R; School of BioSciences, The University of Melbourne, Melbourne, Victoria, Australia., Fancourt B; School of Environmental and Rural Science, University of New England, Armidale, New South Wales, Australia.; Department of the Environment, Tourism, Science & Innovation, Queensland Parks and Wildlife Service, Toowoomba, Queensland, Australia., Faulkner T; Australian Reptile Park & Aussie Ark, Somersby, New South Wales, Australia., Shute H; Australian Reptile Park & Aussie Ark, Somersby, New South Wales, Australia., Reid D; Australian Reptile Park & Aussie Ark, Somersby, New South Wales, Australia., Pask AJ; School of BioSciences, The University of Melbourne, Melbourne, Victoria, Australia., Feigin CY; School of Agriculture, Biomedicine and Environment, La Trobe University, Melbourne, Victoria, Australia.

Πηγή: Biology letters [Biol Lett] 2025 Oct; Vol. 21 (10), pp. 20250302. Date of Electronic Publication: 2025 Oct 22.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: The Royal Society Country of Publication: England NLM ID: 101247722 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-957X (Electronic) Linking ISSN: 17449561 NLM ISO Abbreviation: Biol Lett Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Receptor, Melanocortin, Type 1*/genetics , Receptor, Melanocortin, Type 1*/metabolism , Agouti Signaling Protein*/genetics , Agouti Signaling Protein*/metabolism , Hair Color*/genetics , Marsupialia*/genetics , Loss of Function Mutation*, Animals

Effects of the PCSK9 C378W Mutation on PCSK9 Levels and Lipid Profiles in Taiwanese Individuals: A Loss-of-Function Mutation with Potential Cardiovascular Benefits.

Συγγραφείς: Wu S; Department of Life Science, Chinese Culture University, Taipei 11114, Taiwan., Hsu LA; The First Cardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Taoyuan 33305, Taiwan.; College of Medicine, Chang Gung University, Taoyuan 33305, Taiwan., Yeh KH; The Division of Cardiology, Department of Internal Medicine, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City 23142, Taiwan.; School of Medicine, Tzu Chi University, Hualien 97004, Taiwan., Ko YL; The Division of Cardiology, Department of Internal Medicine, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City 23142, Taiwan.; School of Medicine, Tzu Chi University, Hualien 97004, Taiwan.; Department of Research, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City 23142, Taiwan.

Πηγή: Genes [Genes (Basel)] 2025 Sep 19; Vol. 16 (9). Date of Electronic Publication: 2025 Sep 19.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Proprotein Convertase 9*/genetics , Proprotein Convertase 9*/blood , Loss of Function Mutation* , Cardiovascular Diseases*/genetics , Cardiovascular Diseases*/blood , Lipids*/blood, Humans ; Female ; Male ; Taiwan/epidemiology ; Middle Aged ; Cholesterol, LDL/blood ; Cholesterol, LDL/genetics ; Aged ; Lipid Metabolism/genetics ; Adult ; Mutation

[Clinical features and immunotherapy for children with loss-of-function/gain-of-function mutations in the STAT gene: an analysis of 10 cases].

Συγγραφείς: Li HW; Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China., Wang YH; Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China., Wu SZ; Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China., Zhang BY; Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China., Xu SH; Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China., Xu JX; Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China., Huang ZH; Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China., Lu CY; Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China., Chen DH; Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China.

Πηγή: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2025 Aug 15; Vol. 27 (8), pp. 951-958.

Τύπος έκδοσης: English Abstract; Journal Article

Στοιχεία περιοδικού: Publisher: Zhongguo dang dai er ke za zhi she Country of Publication: China NLM ID: 100909956 Publication Model: Print Cited Medium: Print ISSN: 1008-8830 (Print) Linking ISSN: 10088830 NLM ISO Abbreviation: Zhongguo Dang Dai Er Ke Za Zhi Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Immunotherapy* , Gain of Function Mutation* , Loss of Function Mutation* , STAT Transcription Factors*/genetics, Humans ; Male ; Female ; Child, Preschool ; Child ; Retrospective Studies ; Infant

Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity.

Συγγραφείς: Alajlan H; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh, MBC-03 PO BOX 3354, 11211, Saudi Arabia., Al-Mazrou A; Cell Therapy & Immunobiology Department, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Alruwaili H; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh, MBC-03 PO BOX 3354, 11211, Saudi Arabia., Sumayli S; Department of Medicine, Section of Allergy/Immunology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia., Almehaidib A; Department of Pediatrics, Section of Pediatric Gastroenterology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia., Alsaleem K; Department of Pediatrics, Section of Pediatric Gastroenterology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Awwad SA; Department of Pediatrics Section of Allergy and Immunology, King Faisal Specialist Hospital and Research Center, Riyadh, MBC-58 P.O.Box 3354, 11211, Saudi Arabia., Ghebeh H; Cell Therapy & Immunobiology Department, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Al-Alwan M; Cell Therapy & Immunobiology Department, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alazami AM; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh, MBC-03 PO BOX 3354, 11211, Saudi Arabia. amalazami@kfshrc.edu.sa., Al-Mousa H; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. hamoudalmousa@kfshrc.edu.sa.; Department of Pediatrics Section of Allergy and Immunology, King Faisal Specialist Hospital and Research Center, Riyadh, MBC-58 P.O.Box 3354, 11211, Saudi Arabia. hamoudalmousa@kfshrc.edu.sa.

Πηγή: Journal of clinical immunology [J Clin Immunol] 2025 Sep 30; Vol. 45 (1), pp. 139. Date of Electronic Publication: 2025 Sep 30.

Τύπος έκδοσης: Journal Article; Case Reports

Στοιχεία περιοδικού: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): B-Lymphocytes*/immunology , B-Lymphocytes*/metabolism , Class I Phosphatidylinositol 3-Kinases*/genetics , Autoimmunity*/genetics , Loss of Function Mutation*, Humans ; Male ; Female ; Homozygote ; Siblings ; Child ; Child, Preschool ; Pedigree ; Mutation ; Infant

A loss-of-function human ADAR variant activates innate immune response and promotes bowel inflammation.

Συγγραφείς: Xu P; Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA. pex9@pitt.edu.; Department of Hepatobiliary and Pancreatic Surgery, Zhongnan Hospital of Wuhan University, School of Pharmaceutical Sciences, Wuhan University, Wuhan, China. pex9@pitt.edu.; Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan, China. pex9@pitt.edu., Xi Y; Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Kim JW; Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pharmacology, Institute of Medical Sciences, College of Medicine, Gyeongsang National University, Jinju, Republic of Korea.; Department of Convergence Medical Science, Gyeongsang National University Graduate School, Jinju, Republic of Korea., Zhang M; Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Gao C; Department of Hepatobiliary and Pancreatic Surgery, Zhongnan Hospital of Wuhan University, School of Pharmaceutical Sciences, Wuhan University, Wuhan, China., Wang Y; Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Xu M; Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Wang X; Department of Hepatobiliary and Pancreatic Surgery, Zhongnan Hospital of Wuhan University, School of Pharmaceutical Sciences, Wuhan University, Wuhan, China., Ren S; Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Yang D; Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Wang Q; Department of Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Xie W; Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh, Pittsburgh, PA, USA. wex6@pitt.edu.; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA. wex6@pitt.edu.

Πηγή: Nature communications [Nat Commun] 2025 Sep 29; Vol. 16 (1), pp. 8560. Date of Electronic Publication: 2025 Sep 29.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Adenosine Deaminase*/genetics , Adenosine Deaminase*/metabolism , Adenosine Deaminase*/immunology , Adenosine Deaminase*/deficiency , Immunity, Innate*/genetics , RNA-Binding Proteins*/genetics , RNA-Binding Proteins*/metabolism , Inflammatory Bowel Diseases*/genetics , Inflammatory Bowel Diseases*/immunology , Loss of Function Mutation*, Humans ; Animals ; Interferon-Induced Helicase, IFIH1/metabolism ; Interferon-Induced Helicase, IFIH1/genetics ; Mice ; RNA, Double-Stranded/metabolism ; RNA, Double-Stranded/genetics ; Pyrimidines ; Nitriles ; Colitis/genetics ; Colitis/immunology ; Signal Transduction ; Mice, Knockout ; Mice, Inbred C57BL ; Female ; Male ; Janus Kinases/metabolism ; STAT Transcription Factors/metabolism ; Pyrazoles