A rare CALR exon 9 mutation p.E379Vfs*53 in AYA generation exhibits gain-of-function nature and can induce essential thrombocythemia; a case report.

Authors: Nagaharu K; Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan.; Lunds University Cancer Center, Lund University, Lund, Sweden., Ono R; Department of Microbiology and Molecular Genetics, Mie University Graduate School of Medicine, Tsu, Japan., Nakano E; Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan.; Department of Hematology, Suzuka Kaisei Hospital, Suzuka, Japan., Nakamura A; Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan.; Department of Microbiology and Molecular Genetics, Mie University Graduate School of Medicine, Tsu, Japan., Iwayama R; Department of Microbiology and Molecular Genetics, Mie University Graduate School of Medicine, Tsu, Japan., Ikejiri M; Department of Clinical Laboratory, Mie University Hospital, Tsu, Japan., Oka K; Department of Hematology, Suzuka Kaisei Hospital, Suzuka, Japan., Ohishi K; Department of transfusion medicine and cell therapy, Mie University Hospital, Tsu, Japan., Nosaka T; Department of Microbiology and Molecular Genetics, Mie University Graduate School of Medicine, Tsu, Japan., Tawara I; Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan., Sugimoto Y; Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan.

Source: Hematology (Amsterdam, Netherlands) [Hematology] 2025 Dec; Vol. 30 (1), pp. 2513190. Date of Electronic Publication: 2025 Jun 05.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1607-8454 (Electronic) Linking ISSN: 10245332 NLM ISO Abbreviation: Hematology Subsets: MEDLINE

MeSH Terms: Thrombocythemia, Essential*/genetics , Thrombocythemia, Essential*/diagnosis , Calreticulin*/genetics , Exons* , Gain of Function Mutation* , Mutation*, Humans ; Female ; Adult

A dual-action liposome-peptide formulation synergistically counteracts a gain-of-function p53 mutant.

Authors: Ghosh Chaudhary S; Infectious Diseases and Immunology, CSIR - Indian Institute of Chemical Biology, Kolkata, India.; Experimental Immunology Branch, National Cancer Institute, National Institute of Health, Bethesda, MD, USA., Bhowmick S; Department of Biophysics, Bose Institute, Kolkata, India., Bhattacharya S; Infectious Diseases and Immunology, CSIR - Indian Institute of Chemical Biology, Kolkata, India., Roy S; Department of Biophysics, Bose Institute, Kolkata, India., Ali N; Infectious Diseases and Immunology, CSIR - Indian Institute of Chemical Biology, Kolkata, India.

Source: Journal of liposome research [J Liposome Res] 2025 Dec; Vol. 35 (4), pp. 490-502. Date of Electronic Publication: 2025 Sep 18.

Publication Type: Journal Article

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9001952 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2394 (Electronic) Linking ISSN: 08982104 NLM ISO Abbreviation: J Liposome Res Subsets: MEDLINE

MeSH Terms: Liposomes*/chemistry , Tumor Suppressor Protein p53*/genetics , Tumor Suppressor Protein p53*/metabolism , Peptides*/chemistry , Peptides*/pharmacology , Gain of Function Mutation*/drug effects , Antineoplastic Agents*/pharmacology , Antineoplastic Agents*/chemistry, Humans ; Doxorubicin/pharmacology ; Doxorubicin/chemistry ; Cell Line, Tumor ; Cell Proliferation/drug effects

Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.

Authors: Blanco-Lobo P; Instituto de Biomedicina de Sevilla, Research Group: 'Inborn Errors of Immunity', Pediatric Infectious Diseases, Rheumatology and Immunology Unit, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Av. Manuel Siurot, s/n. 41013, Seville, Spain.; Departamento de Farmacología, Pediatría y Radiología, Facultad de Medicina, Universidad de Sevilla, Seville, Spain., Gilabert-Prieto P; Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen del Rocío, CSIC/Universidad de Sevilla, Seville, Spain., de Felipe B; Instituto de Biomedicina de Sevilla, Research Group: 'Inborn Errors of Immunity', Pediatric Infectious Diseases, Rheumatology and Immunology Unit, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Av. Manuel Siurot, s/n. 41013, Seville, Spain., Moreno-Fuentes D; Instituto de Biomedicina de Sevilla, Research Group: 'Inborn Errors of Immunity', Pediatric Infectious Diseases, Rheumatology and Immunology Unit, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Av. Manuel Siurot, s/n. 41013, Seville, Spain., Guisado Hernández P; Instituto de Biomedicina de Sevilla, Research Group: 'Inborn Errors of Immunity', Pediatric Infectious Diseases, Rheumatology and Immunology Unit, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Av. Manuel Siurot, s/n. 41013, Seville, Spain., Ortiz-Ramírez A; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y digestivas (CIBEREHD), Instituto de Salud Carlos III (ISCIII), 28009, Madrid, Spain.; Departament de Bioquímica i Biomedicina molecular, Facultat de Biologia, Universitat de Barcelona, 08028, Barcelona, Spain., Mensa-Vilaró A; Department of Immunology, CDB, Hospital Clínic Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Aróstegui JI; Department of Immunology, CDB, Hospital Clínic Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Palmou N; Department of Rheumatology and Pediatric Rheumatology, Immunology Group, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spain., Velasco Gonzalez V; Pediatric Pulmonology, Canary Islands University Teaching Hospital, Tenerife, Spain., Deyà Martinez Á; Institut de Recerca Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues, Spain.; Clinical Immunology Unit Hospital, Sant Joan de Déu-Hospital Clínic de Barcelona, Barcelona, Spain.; Department of Pediatrics, Hospital Universitari Son Espases, Palma, Spain., Ramakers J; Multidisciplinary Group for Research in Pediatrics, Balearic Island Health Research Institute (IdISBa), Palma, Spain., Ivorra-Cortés J; Servicio de Reumatología, Hospital Universitari I Politècnic La Fe, Valencia, Spain., Roca C; Clinical Unit of Infectious Diseases, Microbiology and Parasitology, Institute of Biomedicine of Seville (IBiS), Virgen del Rocio University Hospital, CSIC/University of Seville, 41013, Seville, Spain., Cordero E; Clinical Unit of Infectious Diseases, Microbiology and Parasitology, Institute of Biomedicine of Seville (IBiS), Virgen del Rocio University Hospital, CSIC/University of Seville, 41013, Seville, Spain.; Department of Medicine, Faculty of Medicine, Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, Madrid, Spain., Guillen I; Pediatric Cardiology Unit, Hospital Universitario Virgen del Rocío, 41013, Seville, Spain., Valerdiz Menéndez N; UGC Anatomía patológica, Hospital Universitario Virgen del Rocío, 41013, Seville, Spain., Lucena JM; Immunology Unit, University Hospital Virgen del Rocío, Seville, Spain., Gaboli M; Pediatric Pneumology Unit, Hospital Universitario Virgen del Rocío, 41013, Seville, Spain., Olbrich P; Instituto de Biomedicina de Sevilla, Research Group: 'Inborn Errors of Immunity', Pediatric Infectious Diseases, Rheumatology and Immunology Unit, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Av. Manuel Siurot, s/n. 41013, Seville, Spain. polbrich@us.es.; Departamento de Farmacología, Pediatría y Radiología, Facultad de Medicina, Universidad de Sevilla, Seville, Spain. polbrich@us.es., Neth O; Instituto de Biomedicina de Sevilla, Research Group: 'Inborn Errors of Immunity', Pediatric Infectious Diseases, Rheumatology and Immunology Unit, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Av. Manuel Siurot, s/n. 41013, Seville, Spain.

Source: Journal of clinical immunology [J Clin Immunol] 2025 Nov 25; Vol. 45 (1), pp. 167. Date of Electronic Publication: 2025 Nov 25.

Publication Type: Journal Article; Case Reports

Journal Info: 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

MeSH Terms: Down Syndrome*/drug therapy , Down Syndrome*/genetics , Down Syndrome*/immunology , Down Syndrome*/diagnosis , Down Syndrome*/complications , STAT1 Transcription Factor*/genetics , STAT1 Transcription Factor*/metabolism , Gain of Function Mutation* , Janus Kinase Inhibitors*/therapeutic use, Humans ; Nitriles ; Female ; Male ; Pyrimidines ; Pyrazoles/therapeutic use ; Cytokines/blood ; Biomarkers

Gain-of-function variant in NNT causes premature diffuse familial sebaceous hyperplasia.

Authors: Liang L; Dermatology Hospital, Southern Medical University, Guangzhou, China., Wang S; Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China., Huang S; Dermatology Hospital, Southern Medical University, Guangzhou, China., Sun Y; Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China., Peng S; Dermatology Hospital, Southern Medical University, Guangzhou, China., Zouboulis CC; Departments of Dermatology, Venereology, Allergology and Immunology, Staedtisches Klinikum Dessau, Brandenburg Medical School Theodor Fontane and Faculty of Health Sciences Brandenburg, Dessau, Germany., Hossini AM; Departments of Dermatology, Venereology, Allergology and Immunology, Staedtisches Klinikum Dessau, Brandenburg Medical School Theodor Fontane and Faculty of Health Sciences Brandenburg, Dessau, Germany., Chen Q; Department of General Dermatology, Guangzhou Dermatology Hospital, Guangzhou, China., Wang H; Dermatology Hospital, Southern Medical University, Guangzhou, China., Lin Z; Dermatology Hospital, Southern Medical University, Guangzhou, China.

Source: The British journal of dermatology [Br J Dermatol] 2025 Nov 18; Vol. 193 (6), pp. 1182-1191.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

MeSH Terms: Gain of Function Mutation*/genetics , NADP Transhydrogenases*/genetics , NADP Transhydrogenases*/metabolism , Sebaceous Gland Diseases*/genetics , Sebaceous Gland Diseases*/pathology , Sebaceous Glands*/pathology , Sebaceous Glands*/ultrastructure, Adult ; Female ; Humans ; Male ; Middle Aged ; Exome Sequencing ; Hyperplasia/genetics ; Hyperplasia/pathology ; Lipid Peroxidation/genetics ; Mutation, Missense ; Pedigree ; Reactive Oxygen Species/metabolism

PIEZO1 gain-of-function mutation drives cardiomyopathy by disrupting myocardial lipid homeostasis besides iron overload.

Authors: Fan C; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Du H; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Sun S; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Lu H; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China.; Department of Cardiology, Qilu Hospital of Shandong University, Jinan, China., Wang Y; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Lu F; Institutes of Biomedical Sciences, Department of Cardiology, Zhongshan Hospital, Shanghai Institute of Cardiovascular Diseases, Fudan University, Shanghai, China., Wang Q; Department of Radiology, Qilu Hospital of Shandong University, Jinan, China., Zhang C; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Xue L; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Pan C; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Yue H; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Wang H; Department of Critical Care Medicine, Qilu Hospital of Shandong University, Jinan, China., Qian J; Department of Cardiology, Zhongshan Hospital, Shanghai Institute of Cardiovascular Disease, Fudan University, Shanghai, China., Cui S; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Chen Y; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China., Xu F; Department of Emergency Medicine, Qilu Hospital of Shandong University, Jinan, China.; Shandong Provincial Clinical Research Center for Emergency and Critical Care Medicine, Institute of Emergency and Critical Care Medicine of Shandong University, Chest Pain Center, Qilu Hospital of Shandong University, Jinan, China.; Medical and Pharmaceutical Basic Research Innovation Center of Emergency and Critical Care Medicine, China's Ministry of Education, Shandong Provincial Engineering Laboratory for Emergency and Critical Care Medicine, Key Laboratory of Emergency and Critical Care Medicine of Shandong Province, Key Laboratory of Cardiopulmonary-Cerebral Resuscitation Research of Shandong Province, Qilu Hospital of Shandong University, Jinan, China.; NMPA Key Laboratory for Clinical Research and Evaluation of Innovative Drug, Qilu Hospital of Shandong University, Jinan, China.; State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Qilu Hospital of Shandong University, Jinan, China.

Source: Science advances [Sci Adv] 2025 Nov 14; Vol. 11 (46), pp. eady9242. Date of Electronic Publication: 2025 Nov 14.

Publication Type: Journal Article

Journal Info: 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

MeSH Terms: Iron Overload*/metabolism , Iron Overload*/genetics , Iron Overload*/pathology , Cardiomyopathies*/genetics , Cardiomyopathies*/metabolism , Cardiomyopathies*/pathology , Ion Channels*/genetics , Ion Channels*/metabolism , Lipid Metabolism*/genetics , Gain of Function Mutation* , Myocardium*/metabolism , Myocardium*/pathology , Homeostasis*, Animals ; Humans ; Mice ; Male ; Myocytes, Cardiac/metabolism ; Calcium/metabolism ; Adult ; Calcium-Calmodulin-Dependent Protein Kinase Type 2/metabolism ; Forkhead Box Protein O3/metabolism ; Forkhead Box Protein O3/genetics ; Iron/metabolism

FGFR3 gain-of-function delays intramembranous bone healing in a mouse calvarial fracture model.

Authors: Bian H; Department of Oral and Maxillofacial Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. Electronic address: bian.huiting.w0@f.mail.nagoya-u.ac.jp., Fujio M; Department of Oral and Maxillofacial Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. Electronic address: fujio.masahito.p4@f.mail.nagoya-u.ac.jp., Matsushita M; Department of Orthopaedic Surgery, Nagoya University Graduates School of Medicine, Nagoya, Aichi, Japan. Electronic address: matsushita.masaki.a7@f.mail.nagoya-u.ac.jp., Esaki R; Department of Orthopaedic Surgery, Nagoya University Graduates School of Medicine, Nagoya, Aichi, Japan. Electronic address: esaki.ryusaku.s7@f.mail.nagoya-u.ac.jp., Tsuboi M; Department of Oral and Maxillofacial Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. Electronic address: tsuboi.makoto.x3@f.mail.nagoya-u.ac.jp., Wakasugi M; Department of Oral and Maxillofacial Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. Electronic address: wakasugi.masashi.n9@f.mail.nagoya-u.ac.jp., Liu Y; Department of Oral and Maxillofacial Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. Electronic address: liu.yuqing.a2@s.mail.nagoya-u.ac.jp., Imagama S; Department of Orthopaedic Surgery, Nagoya University Graduates School of Medicine, Nagoya, Aichi, Japan. Electronic address: imagama.shiro.v4@f.mail.nagoya-u.ac.jp., Hibi H; Department of Oral and Maxillofacial Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. Electronic address: hibi.hideharu.u3@f.mail.nagoya-u.ac.jp.

Source: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2025 Nov 08; Vol. 788, pp. 152799. Date of Electronic Publication: 2025 Oct 13.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

MeSH Terms: Receptor, Fibroblast Growth Factor, Type 3*/genetics , Receptor, Fibroblast Growth Factor, Type 3*/metabolism , Fracture Healing*/genetics , Gain of Function Mutation* , Skull Fractures*/pathology , Skull Fractures*/genetics , Skull Fractures*/metabolism , Skull Fractures*/diagnostic imaging , Skull Fractures*/physiopathology, Animals ; Mice, Transgenic ; Mice ; Disease Models, Animal ; Osteogenesis/genetics ; Osteoblasts/metabolism ; Osteoblasts/pathology ; Skull/pathology ; Skull/injuries ; X-Ray Microtomography ; Osteoclasts/metabolism ; Osteoclasts/pathology

The chordoid glioma PRKCA D463H mutation is a kinase inactive, gain-of-function allele that induces early-onset chondrosarcoma in mice.

Authors: Calleja V; Francis Crick Institute, London NW1 1AT, UK., Henry JC; Barts Cancer Institute, Queen Mary University of London, London EC1M 6BQ, UK., Cobbaut M; Francis Crick Institute, London NW1 1AT, UK., Sewell J; Barts Cancer Institute, Queen Mary University of London, London EC1M 6BQ, UK., Rizzoti K; Francis Crick Institute, London NW1 1AT, UK., Houghton F; Francis Crick Institute, London NW1 1AT, UK., Boeing S; Francis Crick Institute, London NW1 1AT, UK., Anyanwu N; Francis Crick Institute, London NW1 1AT, UK., Varsani-Brown S; Francis Crick Institute, London NW1 1AT, UK., Snoeks T; Francis Crick Institute, London NW1 1AT, UK., Suárez-Bonnet A; Royal Veterinary School, Hatfield AL9 7TA, UK., Priestnall SL; Royal Veterinary School, Hatfield AL9 7TA, UK., McDonald NQ; Francis Crick Institute, London NW1 1AT, UK.; Birkbeck College, London WC1E 7HX, UK., Cameron AJM; Barts Cancer Institute, Queen Mary University of London, London EC1M 6BQ, UK., Parker PJ; Francis Crick Institute, London NW1 1AT, UK.; King's College London, London SE1 1UL, UK.

Source: Science signaling [Sci Signal] 2025 Nov 04; Vol. 18 (911), pp. eadr0235. Date of Electronic Publication: 2025 Nov 04.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101465400 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-9145 (Electronic) Linking ISSN: 19450877 NLM ISO Abbreviation: Sci Signal Subsets: MEDLINE

MeSH Terms: Protein Kinase C-alpha*/genetics , Protein Kinase C-alpha*/metabolism , Chondrosarcoma*/genetics , Chondrosarcoma*/pathology , Chondrosarcoma*/metabolism , Gain of Function Mutation* , Glioma*/genetics , Glioma*/pathology , Brain Neoplasms*/genetics , Brain Neoplasms*/pathology, Animals ; Mice ; Humans ; Alleles ; Cell Line, Tumor ; Gene Expression Regulation, Neoplastic ; Mutation ; Gene Knock-In Techniques

Penetrant PKCβ mutation in ATLL displays a mixed gain-of-function.

Authors: Brown SJ; Protein Phosphorylation Laboratory.; Signalling and Structural Biology Laboratory., Briggs DC; Signalling and Structural Biology Laboratory., Costello P; Signalling and Transcription Laboratory, Francis Crick Institute, London, U.K., Yaguchi H; Department of Infectious Diseases, Faculty of Medicine, Imperial College London, London, U.K., Bangham CR; Department of Infectious Diseases, Faculty of Medicine, Imperial College London, London, U.K., Parker PJ; Protein Phosphorylation Laboratory.; School of Cancer and Pharmaceutical Sciences, Guy's Campus, King's College London, London, U.K., McDonald NQ; Signalling and Structural Biology Laboratory.; Institute of Structural and Molecular Biology, School of Natural Sciences, Birkbeck College, London, U.K.

Source: The Biochemical journal [Biochem J] 2025 Nov 04; Vol. 482 (21).

Publication Type: Journal Article

Journal Info: Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Print Cited Medium: Internet ISSN: 1470-8728 (Electronic) Linking ISSN: 02646021 NLM ISO Abbreviation: Biochem J Subsets: MEDLINE

MeSH Terms: Protein Kinase C beta*/genetics , Protein Kinase C beta*/metabolism , Protein Kinase C beta*/antagonists & inhibitors , Protein Kinase C beta*/chemistry , Gain of Function Mutation* , Mutation, Missense*, Animals ; Mice ; Humans ; Gene Knock-In Techniques

Differential modulation of polycystin-2 gain-of-function channels by cysteine-reactive compounds, amphiphilic substances, and S4-S5 linker mutations.

Authors: Geiges L; Institute of Cellular and Molecular Physiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Staudner T; Institute of Cellular and Molecular Physiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Khamseekaew J; Institute of Cellular and Molecular Physiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Korbmacher C; Institute of Cellular and Molecular Physiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Ilyaskin AV; Institute of Cellular and Molecular Physiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany. Electronic address: alexandr.ilyaskin@fau.de.

Source: The Journal of biological chemistry [J Biol Chem] 2025 Nov; Vol. 301 (11), pp. 110766. Date of Electronic Publication: 2025 Sep 24.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

MeSH Terms: Cysteine*/metabolism , Cysteine*/chemistry , Cysteine*/genetics , TRPP Cation Channels*/genetics , TRPP Cation Channels*/metabolism , TRPP Cation Channels*/chemistry , Gain of Function Mutation*, Animals ; Xenopus laevis ; Humans ; Oocytes/metabolism ; Polycystic Kidney, Autosomal Dominant/genetics ; Polycystic Kidney, Autosomal Dominant/metabolism ; Mutagenesis, Site-Directed ; Ion Channel Gating/drug effects

Gain-of-function PPM1D mutations attenuate ischemic stroke.

Authors: He W; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Li Y; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Fan J; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Liu Y; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Yuan M; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Cheng S; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Huang X; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Yan B; Department of Neurology, Tianjin Medical University General Hospital, Tianjin, China., Zhang Z; Department of Neurology, Tianjin Medical University General Hospital, Tianjin, China., Xiu Y; Department of Neurology, Tianjin Medical University General Hospital, Tianjin, China., Zhu H; Department of Neurology, Tianjin Medical University General Hospital, Tianjin, China., Lan T; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Chang Z; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Jiang Y; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Li H; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Meng X; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Wang Y; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China., Van Kaer L; Department of Pathology, Microbiology and Immunology, Vanderbilt University School of Medicine, Nashville, TN, USA., Verkhratsky A; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., Wang Y; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China. yongjunwang@ncrcnd.org.cn., Shi FD; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China. fshi@tmu.edu.cn.; Department of Neurology, Tianjin Medical University General Hospital, Tianjin, China. fshi@tmu.edu.cn., Jin WN; Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of innovative Drug and Device Research & Development for Cerebrovascular Diseases, Beijing, China. weina.jin@ncrcnd.org.cn.

Source: Cell death and differentiation [Cell Death Differ] 2025 Nov; Vol. 32 (11), pp. 2146-2159. Date of Electronic Publication: 2025 May 21.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9437445 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5403 (Electronic) Linking ISSN: 13509047 NLM ISO Abbreviation: Cell Death Differ Subsets: MEDLINE

MeSH Terms: Protein Phosphatase 2C*/genetics , Protein Phosphatase 2C*/metabolism , Ischemic Stroke*/genetics , Ischemic Stroke*/pathology , Ischemic Stroke*/metabolism , Gain of Function Mutation*/genetics , Brain Ischemia*/genetics , Stroke*/genetics, Animals ; Humans ; Mice ; Male ; Mice, Knockout ; Mice, Inbred C57BL ; Female

Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.

Authors: Sjøstrøm E; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark., Studniarczyk D; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Dou X; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Dahl RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Cruz V; DDC Clinic for Special Needs Children, Middlefield, Ohio, USA., Wang H; DDC Clinic for Special Needs Children, Middlefield, Ohio, USA., Mercier S; Genetic Department, CHU Nantes, Nantes, France.; L'institut du Thorax, University of Nantes, CNRS, INSERM, Nantes, France., Deb W; Genetic Department, CHU Nantes, Nantes, France.; L'institut du Thorax, University of Nantes, CNRS, INSERM, Nantes, France., Besnard T; Genetic Department, CHU Nantes, Nantes, France.; L'institut du Thorax, University of Nantes, CNRS, INSERM, Nantes, France., Friedman J; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Essid M; Genetic Department, Mongi Slim Hospital, La Marsa, Tunisia.; Department of Pediatric Neurology and Research Laboratory LR18SP04, National Institute Mongi Ben Hmida of Neurology of Tunis, Rabta, Tunisia., Karoui S; Genetic Department, Mongi Slim Hospital, La Marsa, Tunisia.; Maternal and Child Health Laboratory, LR22SP01, Mongi Slim Hospital, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Jemaa LB; Genetic Department, Mongi Slim Hospital, La Marsa, Tunisia.; Maternal and Child Health Laboratory, LR22SP01, Mongi Slim Hospital, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Benyounes T; Department of Pediatric Neurology and Research Laboratory LR18SP04, National Institute Mongi Ben Hmida of Neurology of Tunis, Rabta, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, University of Lyon-Université Claude Bernard Lyon 1, Lyon, France., Tonduti D; Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milano, Italy.; Department of Biomedical and Clinical Sciences, University of Milano, Milano, Italy., Iascone M; Medical Genetics Laboratory, Azienda Sociosanitaria Territoriale Papa Giovanni XXIII, Bergamo, Italy., Orcesi S; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Fradin M; Genetic Department, Centre Labellise Deficiences Intellectuelles Rares, Rennes University Hospital, Rennes, France., Dubourg C; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France., Napuri S; Department of Pediatric Neurology, Rennes, France., Cull-Candy SG; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Coombs ID; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Farrant M; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Bayat A; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.

Source: Clinical genetics [Clin Genet] 2025 Nov; Vol. 108 (5), pp. 553-565. Date of Electronic Publication: 2025 May 20.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

MeSH Terms: Receptors, AMPA*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Gain of Function Mutation*/genetics , Genetic Predisposition to Disease*, Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; Adult ; Phenotype

Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype.

Authors: Yaakoubi R; Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis, University Tunis El-Manar, Tunis, Tunisia.; Department of medicine, University of Rochester Medical Center, Rochester, NY, United States., Mekki N; Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis, University Tunis El-Manar, Tunis, Tunisia.; Faculty of Medicine of Tunis, Tunis El-Manar University, Tunis, Tunisia., Ben Chehida A; Faculty of Medicine of Tunis, Tunis El-Manar University, Tunis, Tunisia.; Department of Pediatrics, La Rabta Hospital, Tunis, Tunisia., Benhammadi A; Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis, University Tunis El-Manar, Tunis, Tunisia., Chan KW; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China., Leung D; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China., Gharsallah C; Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis, University Tunis El-Manar, Tunis, Tunisia.; Institut Pasteur, Université Paris Cité, INSERM U1201, Unité de Parasitologie Moléculaire et Signalisation, Paris, France., Guerfali FZ; Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis, University Tunis El-Manar, Tunis, Tunisia., Barbouche MR; Department of Microbiology, Immunology and Infectious Diseases, College of Medicine and Medical Sciences, Arabian Gulf University, Manama, Bahrain., Lau YL; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China., Ben-Ali M; Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis, University Tunis El-Manar, Tunis, Tunisia., Ben-Mustapha I; Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis, University Tunis El-Manar, Tunis, Tunisia.; Faculty of Medicine of Tunis, Tunis El-Manar University, Tunis, Tunisia.

Source: Frontiers in immunology [Front Immunol] 2025 Oct 03; Vol. 16, pp. 1646761. Date of Electronic Publication: 2025 Oct 03 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

MeSH Terms: STAT3 Transcription Factor*/genetics , STAT1 Transcription Factor*/genetics , Gain of Function Mutation* , Job Syndrome*/genetics , Job Syndrome*/diagnosis, Humans ; Female ; Adolescent ; Phenotype

PI3K GOF leads to dysregulation of T and B cells that both contribute to extrinsically driving activation and differentiation of other CD4 ⁺ T cells.

Authors: Bier J; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; St Vincent's Healthcare Clinical Campus, School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia., Lau A; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; St Vincent's Healthcare Clinical Campus, School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia., Jackson KJ; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Ruiz-Diaz S; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Peters TJ; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; St Vincent's Healthcare Clinical Campus, School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia., Brink R; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; St Vincent's Healthcare Clinical Campus, School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia., Tangye SG; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; St Vincent's Healthcare Clinical Campus, School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia., Deenick EK; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Kirby Institute, Faculty of Medicine and Health, UNSW Sydney, Kensington, NSW, Australia.

Source: Immunology and cell biology [Immunol Cell Biol] 2025 Oct; Vol. 103 (9), pp. 884-896. Date of Electronic Publication: 2025 Sep 14.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 8706300 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1711 (Electronic) Linking ISSN: 08189641 NLM ISO Abbreviation: Immunol Cell Biol Subsets: MEDLINE

MeSH Terms: Lymphocyte Activation*/immunology , B-Lymphocytes*/immunology , Class I Phosphatidylinositol 3-Kinases*/genetics , Class I Phosphatidylinositol 3-Kinases*/metabolism , CD4-Positive T-Lymphocytes*/immunology , Cell Differentiation*/immunology , Gain of Function Mutation* , Primary Immunodeficiency Diseases*/immunology , Primary Immunodeficiency Diseases*/genetics , Phosphatidylinositol 3-Kinases*/metabolism , Phosphatidylinositol 3-Kinases*/genetics, Animals ; Mice ; Mice, Inbred C57BL ; Humans ; Disease Models, Animal

SCR Disease Name: Activated PI3K-delta Syndrome

Molecular Characteristics and Treatment Implications of TP53 Gain-of-Function Mutations in Non-Small Cell Lung Cancer.

Authors: Zhao Z; Department of Clinical Oncology, Shaanxi Provincial Cancer Hospital, Xi'an, China., Lu R; Department of Thoracic Surgery, Zhongnan Hospital of Wuhan University, Wuhan, China., Zhang F; Department of Oncology, Tangdu Hospital, the Fourth Military Medical University, Xi'an, China., Chen H; Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, China., Ou Q; Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, China., Zhao X; Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, China., Hong X; Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, China., Bao H; Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, China., Lu D; Department of Respiratory Medicine, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China., Min J; Department of Oncology, Tangdu Hospital, the Fourth Military Medical University, Xi'an, China.

Source: Cancer medicine [Cancer Med] 2025 Oct; Vol. 14 (20), pp. e71215.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Ltd Country of Publication: United States NLM ID: 101595310 Publication Model: Print Cited Medium: Internet ISSN: 2045-7634 (Electronic) Linking ISSN: 20457634 NLM ISO Abbreviation: Cancer Med Subsets: MEDLINE

MeSH Terms: Carcinoma, Non-Small-Cell Lung*/genetics , Carcinoma, Non-Small-Cell Lung*/drug therapy , Carcinoma, Non-Small-Cell Lung*/pathology , Carcinoma, Non-Small-Cell Lung*/mortality , Carcinoma, Non-Small-Cell Lung*/immunology , Lung Neoplasms*/genetics , Lung Neoplasms*/drug therapy , Lung Neoplasms*/pathology , Lung Neoplasms*/mortality , Lung Neoplasms*/immunology , Lung Neoplasms*/therapy , Tumor Suppressor Protein p53*/genetics , Gain of Function Mutation*, Humans ; Male ; Female ; Middle Aged ; Aged ; Protein Kinase Inhibitors/therapeutic use ; Immunotherapy ; Biomarkers, Tumor/genetics ; Adult ; Protein-Tyrosine Kinases ; Proto-Oncogene Proteins

BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review.

Authors: Baldini L; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy; Dipartimento di Scienza della Sanità Pubblica e Pediatriche, Università degli Studi di Torino, Torino, Italy. Electronic address: letizia.baldini4@unibo.it., Keller B; Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Dewitte L; Department of Microbiology, Immunology and Transplantation, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Passarelli C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Ginevrino M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Carli D; Dipartimento di Scienze Mediche, Università degli Studi di Torino, Torino, Italy., Montin D; Dipartimento di Scienza della Sanità Pubblica e Pediatriche, Università degli Studi di Torino, Torino, Italy; Dipartimento di Patologia e Cura del Bambino 'Regina Margherita', Ospedale Infantile Regina Margherita, Torino, Italy., Bossuyt X; Department of Microbiology, Immunology and Transplantation, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Warnatz K; Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Immunology, University Hospital Zurich, Zurich, Switzerland., Licciardi F; Dipartimento di Scienza della Sanità Pubblica e Pediatriche, Università degli Studi di Torino, Torino, Italy; Dipartimento di Patologia e Cura del Bambino 'Regina Margherita', Ospedale Infantile Regina Margherita, Torino, Italy.

Source: Immunology letters [Immunol Lett] 2025 Oct; Vol. 275, pp. 107005. Date of Electronic Publication: 2025 Mar 27.

Publication Type: Journal Article; Case Reports; Systematic Review

Journal Info: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 7910006 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0542 (Electronic) Linking ISSN: 01652478 NLM ISO Abbreviation: Immunol Lett Subsets: MEDLINE

MeSH Terms: CARD Signaling Adaptor Proteins*/genetics , CARD Signaling Adaptor Proteins*/metabolism , Guanylate Cyclase*/genetics , Guanylate Cyclase*/metabolism , Gain of Function Mutation*, Humans ; Male ; Female ; NF-kappa B/metabolism ; Phenotype ; HEK293 Cells ; B-Lymphocytes/immunology ; Signal Transduction ; Genetic Predisposition to Disease ; Mutation

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

Authors: 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.

Source: 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.

Publication Type: English Abstract; Journal Article

Journal Info: 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

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

A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.

Authors: Xiang Y; Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250000, Shandong Province, P.R. China., Sun S; Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250000, Shandong Province, P.R. China., Wang H; Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250000, Shandong Province, P.R. China., Lo CC; Laboratory of Human Immunology and Infectious Diseases, Institute of Immunology and Translational Medicine, Chang Gung University, Taoyuan, Taiwan., Wu J; Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250000, Shandong Province, P.R. China., Lei WT; Laboratory of Human Immunology and Infectious Diseases, Institute of Immunology and Translational Medicine, Chang Gung University, Taoyuan, Taiwan.; Division of Immunology, Rheumatology, and Allergy, Department of Pediatrics, Hsinchu Municipal MacKay Children's Hospital, Hsinchu, Taiwan.; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan., Li F; Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250000, Shandong Province, P.R. China., Liu X; Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250000, Shandong Province, P.R. China., Dang N; Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250000, Shandong Province, P.R. China., Ku CL; Laboratory of Human Immunology and Infectious Diseases, Institute of Immunology and Translational Medicine, Chang Gung University, Taoyuan, Taiwan. clku@cgu.edu.tw.; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan. clku@cgu.edu.tw.; Division of Infectious Diseases, Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan, Taiwan. clku@cgu.edu.tw., Guo J; Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250000, Shandong Province, P.R. China. guojing@email.sdfmu.edu.cn.

Source: Journal of clinical immunology [J Clin Immunol] 2025 Sep 30; Vol. 45 (1), pp. 137. Date of Electronic Publication: 2025 Sep 30.

Publication Type: Journal Article; Case Reports

Journal Info: 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

MeSH Terms: STAT1 Transcription Factor*/genetics , Candidiasis, Chronic Mucocutaneous*/genetics , Candidiasis, Chronic Mucocutaneous*/diagnosis , Candidiasis, Chronic Mucocutaneous*/drug therapy , Gain of Function Mutation*, Humans ; Child ; Male ; Cytokines/blood ; Nitriles ; Pyrimidines ; Mutation, Missense ; Female ; Pyrazoles/therapeutic use ; Genetic Predisposition to Disease ; Exome Sequencing

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes.

Authors: Badonyi M; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. mihaly.badonyi@ed.ac.uk., Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. joseph.marsh@ed.ac.uk.

Source: Nature communications [Nat Commun] 2025 Sep 25; Vol. 16 (1), pp. 8392. Date of Electronic Publication: 2025 Sep 25.

Publication Type: Journal Article

Journal Info: 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

MeSH Terms: Loss of Function Mutation*/genetics , Gain of Function Mutation*/genetics , Genetic Diseases, Inborn*/genetics , Genes, Dominant*, Humans ; Phenotype ; Mutation, Missense ; Prevalence

Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome.

Authors: Christensen AH; The Unit for Inherited Cardiac Diseases, Department of Cardiology Section 2142, The Heart Centre, Copenhagen University Hospital-Rigshospitalet, Inge Lehmanns Vej 7, DK-2100 Copenhagen OE, Denmark.; Department of Cardiology, Copenhagen University Hospital-Herlev-Gentofte Hospital, Borgmester Ib Juuls Vej 1, DK-2730 Herlev, Denmark., Pan G; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Marvig RL; Department of Genomic Medicine, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Rodriguez Gonzalez FG; Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark.; Finsen Laboratory, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Vissing CR; The Unit for Inherited Cardiac Diseases, Department of Cardiology Section 2142, The Heart Centre, Copenhagen University Hospital-Rigshospitalet, Inge Lehmanns Vej 7, DK-2100 Copenhagen OE, Denmark., Silajdzija E; The Unit for Inherited Cardiac Diseases, Department of Cardiology Section 2142, The Heart Centre, Copenhagen University Hospital-Rigshospitalet, Inge Lehmanns Vej 7, DK-2100 Copenhagen OE, Denmark., Frosted R; The Unit for Inherited Cardiac Diseases, Department of Cardiology Section 2142, The Heart Centre, Copenhagen University Hospital-Rigshospitalet, Inge Lehmanns Vej 7, DK-2100 Copenhagen OE, Denmark.; Department of Cardiology, Copenhagen University Hospital-Herlev-Gentofte Hospital, Borgmester Ib Juuls Vej 1, DK-2730 Herlev, Denmark., Girma EG; Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark.; Finsen Laboratory, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Gabrielaite M; Department of Genomic Medicine, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Jensen HK; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart., Rossing K; The Unit for Inherited Cardiac Diseases, Department of Cardiology Section 2142, The Heart Centre, Copenhagen University Hospital-Rigshospitalet, Inge Lehmanns Vej 7, DK-2100 Copenhagen OE, Denmark., Henriksen FL; Department of Cardiology, Odense University Hospital, Odense, Denmark., Sandgaard NCF; The Unit for Inherited Cardiac Diseases, Department of Cardiology Section 2142, The Heart Centre, Copenhagen University Hospital-Rigshospitalet, Inge Lehmanns Vej 7, DK-2100 Copenhagen OE, Denmark.; Department of Cardiology, Odense University Hospital, Odense, Denmark., Ahlberg G; Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Ghouse J; Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark., Lundegaard PR; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark., Weischenfeldt J; Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark.; Finsen Laboratory, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Wadelius C; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Bundgaard H; The Unit for Inherited Cardiac Diseases, Department of Cardiology Section 2142, The Heart Centre, Copenhagen University Hospital-Rigshospitalet, Inge Lehmanns Vej 7, DK-2100 Copenhagen OE, Denmark.

Source: European heart journal [Eur Heart J] 2025 Sep 15; Vol. 46 (35), pp. 3486-3497.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8006263 Publication Model: Print Cited Medium: Internet ISSN: 1522-9645 (Electronic) Linking ISSN: 0195668X NLM ISO Abbreviation: Eur Heart J Subsets: MEDLINE

MeSH Terms: Gain of Function Mutation*/genetics , Arrhythmias, Cardiac*/genetics , Enhancer Elements, Genetic*/genetics, Humans ; Female ; Male ; Pedigree ; Adult ; Electrocardiography ; Middle Aged ; Genetic Linkage ; Whole Genome Sequencing ; Phenotype

A gain-of-function PIK3CD variant, R512W, impairs T cell function through polyamine-dependent metabolic dysregulation.

Authors: Kiyota K; Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Oita, Japan., Shiraishi H; Department of Biochemistry and Molecular Genetics, Oita University Faculty of Medicine, Yufu, Oita, Japan., Ohno S; Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi, 981-8558, Japan., Soga Y; Department of Biochemistry and Molecular Genetics, Oita University Faculty of Medicine, Yufu, Oita, Japan., Shimizu N; Department of Biochemistry and Molecular Genetics, Oita University Faculty of Medicine, Yufu, Oita, Japan., Yatsuka H; Department of Ophthalmology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Inoue M; Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Oita, Japan., Takeno T; Department of Biochemistry and Molecular Genetics, Oita University Faculty of Medicine, Yufu, Oita, Japan., Hongxia W; Department of Biochemistry and Molecular Genetics, Oita University Faculty of Medicine, Yufu, Oita, Japan., Witaningrum AM; Department of Biochemistry and Molecular Genetics, Oita University Faculty of Medicine, Yufu, Oita, Japan; Division of Veterinary Public Health, Faculty of Veterinary Medicine, Universitas Airlangga, Surabaya, Indonesia., Hanada R; Department of Physiology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Yamaguchi Y; Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi, 981-8558, Japan., Ihara K; Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Oita, Japan., Hanada T; Department of Biochemistry and Molecular Genetics, Oita University Faculty of Medicine, Yufu, Oita, Japan. Electronic address: thanada@oita-u.ac.jp.

Source: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2025 Sep 08; Vol. 778, pp. 152378. Date of Electronic Publication: 2025 Jul 17.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

MeSH Terms: Class I Phosphatidylinositol 3-Kinases*/genetics , Class I Phosphatidylinositol 3-Kinases*/chemistry , Class I Phosphatidylinositol 3-Kinases*/metabolism , T-Lymphocytes*/metabolism , T-Lymphocytes*/immunology , Gain of Function Mutation* , Polyamines*/metabolism, Humans ; Animals ; Mice ; Cell Proliferation ; Mutation, Missense