Effectiveness and Safety of Setmelanotide in a Patient With a Heterozygous PCSK1 Deficiency.

Συγγραφείς: Lytvyak E; Department of Medicine, University of Alberta, Edmonton, Alberta, Canada., Rattol A; Department of Medicine, University of Alberta, Edmonton, Alberta, Canada., Grunvald E; School of Medicine, University of California San Diego, La Jolla, California, USA.

Πηγή: Obesity (Silver Spring, Md.) [Obesity (Silver Spring)] 2026 Sep; Vol. 34 Suppl 2, pp. 70-74. Date of Electronic Publication: 2026 May 01.

Τύπος έκδοσης: Journal Article; Case Reports

Στοιχεία περιοδικού: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101264860 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1930-739X (Electronic) Linking ISSN: 19307381 NLM ISO Abbreviation: Obesity (Silver Spring) Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Proprotein Convertase 1*/genetics , Proprotein Convertase 1*/deficiency , Receptor, Melanocortin, Type 4*/agonists , alpha-MSH*/analogs & derivatives , alpha-MSH*/therapeutic use , alpha-MSH*/adverse effects , Obesity*/drug therapy , Obesity*/genetics , Anti-Obesity Agents*/therapeutic use , Anti-Obesity Agents*/adverse effects, Weight Loss/drug effects ; Hyperpigmentation/chemically induced ; Humans ; Female ; Adult ; Heterozygote ; Mutation ; Treatment Outcome

Transcriptomic changes in the jerboa supraoptic nucleus during osmotic stress: PCSK1 and PTPRN changes are conserved across desert and mesic species.

Συγγραφείς: Gillard BT; Molecular Neuroendocrinology Research Group, Bristol Medical School, Translational Health Sciences, Dorothy Hodgkin Building, University of Bristol, Bristol, UK., Amor N; LR22ES04, Research Laboratory of Bioresources, Environment and Biotechnology (BeB), University of Tunis El Manar, Tunis, Tunisia., Greenwood MP; School of Psychology and Neuroscience, University of Bristol, Bristol, UK., Alagaili AN; Department of Zoology, King Saud University, Riyadh, Kingdom of Saudi Arabia., Murphy D; School of Psychology and Neuroscience, University of Bristol, Bristol, UK.

Πηγή: Journal of neuroendocrinology [J Neuroendocrinol] 2026 Aug; Vol. 38 (8), pp. e70233.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Wiley & Sons Country of Publication: United States NLM ID: 8913461 Publication Model: Print Cited Medium: Internet ISSN: 1365-2826 (Electronic) Linking ISSN: 09538194 NLM ISO Abbreviation: J Neuroendocrinol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Supraoptic Nucleus*/metabolism , Osmotic Pressure*/physiology , Proprotein Convertase 1*/metabolism , Proprotein Convertase 1*/genetics , Transcriptome*, Dehydration/metabolism ; Dehydration/genetics ; Osmoregulation/genetics ; Animals ; Male ; Female ; Species Specificity ; Desert Climate

Analysis of Keratoconus-Related Phenotypes in Two Pcsk1 Mouse Models.

Συγγραφείς: Beatty C; Medical College of Georgia, Augusta University, Augusta, GA, USA., Cai J; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA.; Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA., Yu H; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA., Sun J; Medical College of Georgia, Augusta University, Augusta, GA, USA.; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA., Heo Y; Medical College of Georgia, Augusta University, Augusta, GA, USA., Baratz KH; Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA., Bernhisel AA; Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA., Patel SV; Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA., Estes AJ; Department of Ophthalmology, Augusta University, Augusta, GA, USA.; James and Jean Culver Vision Discovery Institute, Augusta University, Augusta, GA, USA., Kuo AN; Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA., Liu Y; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA.; Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA.; James and Jean Culver Vision Discovery Institute, Augusta University, Augusta, GA, USA.; Center for Biotechnology and Genomic Medicine, Augusta University, Augusta, GA, USA.

Πηγή: Translational vision science & technology [Transl Vis Sci Technol] 2026 Feb 02; Vol. 15 (2), pp. 3.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Association for Research in Vision and Ophthalmology Country of Publication: United States NLM ID: 101595919 Publication Model: Print Cited Medium: Internet ISSN: 2164-2591 (Electronic) Linking ISSN: 21642591 NLM ISO Abbreviation: Transl Vis Sci Technol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Keratoconus*/genetics , Keratoconus*/pathology , Proprotein Convertase 1*/genetics , Proprotein Convertase 1*/metabolism , Cornea*/pathology, Animals ; Disease Models, Animal ; Phenotype ; Mice ; Mice, Knockout ; Tomography, Optical Coherence ; Female ; Mice, Inbred C57BL ; Corneal Pachymetry ; Male

Single-cell transcriptomic analysis reveals a metastasis-associated PCSK1⁺ neuroendocrine subpopulation in pancreatic neuroendocrine tumors.

Συγγραφείς: Yin X; Department of Gastroenterology, Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Li X; Medical Record Room, Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Mi L; Department of Gastroenterology, Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Hou J; Department of Gastroenterology, Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Yin F; Department of Gastroenterology, Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.

Πηγή: Journal of neuroendocrinology [J Neuroendocrinol] 2025 Nov; Vol. 37 (11), pp. e70084. Date of Electronic Publication: 2025 Aug 16.

Τύπος έκδοσης: Journal Article; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: Publisher: Wiley & Sons Country of Publication: United States NLM ID: 8913461 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2826 (Electronic) Linking ISSN: 09538194 NLM ISO Abbreviation: J Neuroendocrinol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Neuroendocrine Tumors*/genetics , Neuroendocrine Tumors*/pathology , Neuroendocrine Tumors*/metabolism , Pancreatic Neoplasms*/genetics , Pancreatic Neoplasms*/pathology , Pancreatic Neoplasms*/metabolism , Neuroendocrine Cells*/metabolism , Neuroendocrine Cells*/pathology , Proprotein Convertase 1*/metabolism , Proprotein Convertase 1*/genetics , Transcriptome*, Liver Neoplasms/secondary ; Liver Neoplasms/genetics ; Humans ; Single-Cell Analysis ; Gene Expression Profiling ; Neoplasm Metastasis

α cells use both PC1/3 and PC2 to process proglucagon peptides and control insulin secretion.

Συγγραφείς: Cui C; Duke Molecular Physiology Institute, Durham, NC, USA., Leander DC; Duke Molecular Physiology Institute, Durham, NC, USA., Gray SM; Duke Molecular Physiology Institute, Durham, NC, USA., El K; Duke Molecular Physiology Institute, Durham, NC, USA., Chen A; Duke Molecular Physiology Institute, Durham, NC, USA., Grimsrud PA; Duke Molecular Physiology Institute, Durham, NC, USA.; Division of Endocrinology, Department of Medicine, Duke University, Durham, NC, USA., Becker JO; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Taylor A; Departments of Surgery and Pathology and Laboratory Medicine, Faculty of Medicine, BC Children's Hospital Research Institute and Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada., Zhang GF; Duke Molecular Physiology Institute, Durham, NC, USA.; Division of Endocrinology, Department of Medicine, Duke University, Durham, NC, USA., Sloop KW; Diabetes, Obesity and Complications, Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN, USA., Verchere CB; Departments of Surgery and Pathology and Laboratory Medicine, Faculty of Medicine, BC Children's Hospital Research Institute and Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada., Hoofnagle AN; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., D'Alessio DA; Duke Molecular Physiology Institute, Durham, NC, USA.; Division of Endocrinology, Department of Medicine, Duke University, Durham, NC, USA., Campbell JE; Duke Molecular Physiology Institute, Durham, NC, USA.; Division of Endocrinology, Department of Medicine, Duke University, Durham, NC, USA.; Department of Pharmacology and Cancer Biology, Duke University, Durham, NC, USA.

Πηγή: Science advances [Sci Adv] 2025 Sep 19; Vol. 11 (38), pp. eady8048. Date of Electronic Publication: 2025 Sep 19.

Τύπος έκδοσης: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

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): Proglucagon*/metabolism , Glucagon-Secreting Cells*/metabolism , Proprotein Convertase 1*/metabolism , Proprotein Convertase 1*/genetics , Insulin*/metabolism , Proprotein Convertase 2*/metabolism , Proprotein Convertase 2*/genetics , Insulin Secretion*, Glucagon-Like Peptide 1/metabolism ; Insulin-Secreting Cells/metabolism ; Animals ; Humans ; Mice ; Mice, Transgenic

Setmelanotide Response Variability in Two Genetically Confirmed Pediatric Kidney Transplant Recipients with Bardet-Biedl Syndrome.

Συγγραφείς: Kondou A; Pediatric Nephrology Unit, First Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki, 54642 Thessaloniki, Greece., Siolos P; First Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki, 54642 Thessaloniki, Greece., Sotiriou G; Pediatric Endocrinology and Diabetes Mellitus Unit, First Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki, 54642 Thessaloniki, Greece., Agakidis C; First Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki, 54642 Thessaloniki, Greece., Dotis J; Third Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki, 54642 Thessaloniki, Greece., Christoforidis A; Pediatric Endocrinology and Diabetes Mellitus Unit, First Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki, 54642 Thessaloniki, Greece., Printza N; Pediatric Nephrology Unit, First Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki, 54642 Thessaloniki, Greece.

Πηγή: International journal of molecular sciences [Int J Mol Sci] 2026 Aug 29; Vol. 27 (17). Date of Electronic Publication: 2026 Aug 29.

Τύπος έκδοσης: Case Reports; Journal Article

Στοιχεία περιοδικού: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Bardet-Biedl Syndrome*/genetics , Bardet-Biedl Syndrome*/drug therapy , alpha-MSH*/analogs & derivatives , alpha-MSH*/therapeutic use , Kidney Transplantation*, Proprotein Convertase 1/genetics ; Humans ; Child ; Adolescent ; Female ; Male ; Transplant Recipients

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.

Συγγραφείς: Huber LM; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Subaşıoğlu A; Department of Medical Genetics, Ataturk Education and Research Hospital, Izmir Katip Celebi University, Izmir, Türkiye.; Genetic Diseases Diagnosis Center, Ataturk Education and Research Hospital, Izmir Katip Celebi University, Izmir, Türkiye., Garczarczyk-Asim D; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Valovka T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria., Müller T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Adam R; Department of Pediatrics, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

Πηγή: Clinical genetics [Clin Genet] 2025 Jul; Vol. 108 (1), pp. 102-106. Date of Electronic Publication: 2025 Feb 01.

Τύπος έκδοσης: Journal Article; Case Reports; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: 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

Ιατρικοί όροι (MeSH): Proprotein Convertase 1*/genetics , Proprotein Convertase 1*/deficiency , Introns*/genetics , Genetic Predisposition to Disease*, Humans ; Male ; Female ; Pedigree ; Infant ; Mutation ; Exome Sequencing ; Phenotype

Distribution of Prohormone Convertase 1/3 in β and α Cells of the Human Fetal Pancreas at Gestational Weeks 8-20.

Συγγραφείς: Krivova YS; Avtsyn Research Institute of Human Morphology, Petrovsky National Research Centre of Surgery, Moscow, Russia. homulkina@gmail.com., Proshchina AE; Avtsyn Research Institute of Human Morphology, Petrovsky National Research Centre of Surgery, Moscow, Russia., Godovalova OS; Avtsyn Research Institute of Human Morphology, Petrovsky National Research Centre of Surgery, Moscow, Russia., Otlyga EG; Avtsyn Research Institute of Human Morphology, Petrovsky National Research Centre of Surgery, Moscow, Russia., Saveliev SV; Avtsyn Research Institute of Human Morphology, Petrovsky National Research Centre of Surgery, Moscow, Russia.

Πηγή: Bulletin of experimental biology and medicine [Bull Exp Biol Med] 2025 Jun; Vol. 179 (2), pp. 260-265. Date of Electronic Publication: 2025 Aug 30.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Springer Country of Publication: United States NLM ID: 0372557 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-8221 (Electronic) Linking ISSN: 00074888 NLM ISO Abbreviation: Bull Exp Biol Med Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Proprotein Convertase 1*/metabolism , Proprotein Convertase 1*/genetics , Insulin-Secreting Cells*/metabolism , Insulin-Secreting Cells*/enzymology , Insulin-Secreting Cells*/cytology , Glucagon-Secreting Cells*/metabolism , Glucagon-Secreting Cells*/enzymology , Glucagon-Secreting Cells*/cytology , Pancreas*/embryology , Pancreas*/cytology , Pancreas*/metabolism, Fetus/cytology ; Fetus/metabolism ; Glucagon/metabolism ; Insulin/metabolism ; Humans ; Gestational Age ; Female ; Pregnancy

The Interplay of UCP3 and PCSK1 Variants in Severe Obesity.

Συγγραφείς: Verde L; Department of Public Health, University of Naples Federico II, Via Sergio Pansini 5, 80131, Naples, Italy.; Department of Medicine, Division of Endocrinology, University of Arizona, Tucson, AZ, USA., Galasso M; Dipartimento di Medicina Clinica e Chirurgia, Centro Italiano per la cura e il Benessere del Paziente con Obesità (C.I.B.O), Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Naples, Italy., Coletta DK; Department of Medicine, Division of Endocrinology, University of Arizona, Tucson, AZ, USA.; Department of Physiology, University of Arizona, Tucson, AZ, USA.; Center for Disparities in Diabetes, Obesity and Metabolism, University of Arizona, Tucson, AZ, USA., Savastano S; Dipartimento di Medicina Clinica e Chirurgia, Centro Italiano per la cura e il Benessere del Paziente con Obesità (C.I.B.O), Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Naples, Italy.; Unità di Endocrinologia, Diabetologia e Andrologia, Dipartimento di Medicina Clinica e Chirurgia, Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Naples, Italy., Mandarino LJ; Department of Medicine, Division of Endocrinology, University of Arizona, Tucson, AZ, USA.; Center for Disparities in Diabetes, Obesity and Metabolism, University of Arizona, Tucson, AZ, USA., Colao A; Dipartimento di Medicina Clinica e Chirurgia, Centro Italiano per la cura e il Benessere del Paziente con Obesità (C.I.B.O), Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Naples, Italy.; Unità di Endocrinologia, Diabetologia e Andrologia, Dipartimento di Medicina Clinica e Chirurgia, Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Naples, Italy.; Cattedra Unesco 'Educazione Alla Salute E Allo Sviluppo Sostenibile', University Federico II, 80131, Naples, Italy., Barrea L; Dipartimento di Psicologia e Scienze della Salute, , Università Telematica Pegaso, Centro Direzionale Isola F2, Via Porzio, Isola F2, 80143, Naples, Italy., Muscogiuri G; Department of Medicine, Division of Endocrinology, University of Arizona, Tucson, AZ, USA. giovanna.muscogiuri@unina.it.; Dipartimento di Medicina Clinica e Chirurgia, Centro Italiano per la cura e il Benessere del Paziente con Obesità (C.I.B.O), Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Naples, Italy. giovanna.muscogiuri@unina.it.; Unità di Endocrinologia, Diabetologia e Andrologia, Dipartimento di Medicina Clinica e Chirurgia, Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Naples, Italy. giovanna.muscogiuri@unina.it.; Cattedra Unesco 'Educazione Alla Salute E Allo Sviluppo Sostenibile', University Federico II, 80131, Naples, Italy. giovanna.muscogiuri@unina.it.

Πηγή: Current obesity reports [Curr Obes Rep] 2025 Apr 26; Vol. 14 (1), pp. 38. Date of Electronic Publication: 2025 Apr 26.

Τύπος έκδοσης: Journal Article; Review; Case Reports

Στοιχεία περιοδικού: Publisher: Current Medicine Group Country of Publication: United States NLM ID: 101578283 Publication Model: Electronic Cited Medium: Internet ISSN: 2162-4968 (Electronic) Linking ISSN: 21624968 NLM ISO Abbreviation: Curr Obes Rep Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Uncoupling Protein 3*/genetics , Uncoupling Protein 3*/metabolism , Obesity, Morbid*/genetics , Obesity, Morbid*/metabolism , Proprotein Convertase 1*/genetics , Proprotein Convertase 1*/metabolism, Insulin Resistance/genetics ; Humans ; Female ; Male ; Genetic Predisposition to Disease ; Adult

Genotype-Phenotype Spectrum of Non-Syndromic Monogenic Obesity in a National Paediatric Cohort.

Συγγραφείς: Kahveci A; Department of Paediatric Endocrinology, Marmara University Faculty of Medicine, Istanbul, Türkiye., Karauzum SU; Department of Paediatric Endocrinology, Ege University Faculty of Medicine, Izmir, Türkiye., Manyas H; Department of Paediatric Endocrinology, Sanliurfa Eyyubiye Training and Research Hospital, Sanliurfa, Türkiye., Ozdemir BS; Department of Paediatric Endocrinology, Ankara Etlik City Hospital, Ankara, Türkiye., Orbak Z; Department of Paediatric Endocrinology, Ataturk University Faculty of Medicine, Erzurum, Türkiye., Tercan U; Department of Paediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye., Yildirim R; Department of Paediatric Endocrinology, Diyarbakir Children Hospital, Diyarbakir, Türkiye., Hatipoglu N; Department of Paediatric Endocrinology, Erciyes University Faculty of Medicine, Kayseri, Türkiye., Kilci F; Department of Paediatric Endocrinology, Kocaeli City Hospital, Kocaeli, Türkiye., Nursoy H; Department of Paediatric Endocrinology, Uludag University Faculty of Medicine, Bursa, Türkiye., Ozalkak S; Department of Paediatric Endocrinology, Diyarbakir Children Hospital, Diyarbakir, Türkiye., Kolbasi B; Department of Paediatric Endocrinology, Dicle University Faculty of Medicine, Diyarbakir, Türkiye., Cetinkaya S; Department of Paediatric Endocrinology, Dr. Sami Ulus Training and Research Hospital, Ankara, Türkiye., Ozdemir HC; Department of Paediatric Endocrinology, Antalya Training and Research Hospital, Antalya, Türkiye., Parlak M; Department of Paediatric Endocrinology, Akdeniz University Faculty of Medicine, Antalya, Türkiye., Kokenli FT; Department of Paediatric Endocrinology, Trakya University Faculty of Medicine, Edirne, Türkiye., Camtosun E; Department of Paediatric Endocrinology, Inonu University Faculty of Medicine, Malatya, Türkiye., Dibeklioglu SE; Department of Paediatric Endocrinology, Konya City Hospital, Konya, Türkiye., Buyukyilmaz G; Department of Paediatric Endocrinology, Ankara Bilkent City Hospital, Ankara, Türkiye., Bulus AD; Department of Paediatric Endocrinology, Ankara Ataturk Sanatory Education and Research Hospital, Ankara, Türkiye., Balki HG; Department of Paediatric Endocrinology, Necip Fazil City Hospital, Kahramanmaras, Türkiye., Ozden A; Department of Paediatric Endocrinology, Ataturk University Faculty of Medicine, Erzurum, Türkiye., Gonc EN; Department of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Ozsu E; Department of Paediatric Endocrinology, Ankara University Faculty of Medicine, Ankara, Türkiye., Demirbilek H; Department of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Yildiz M; Department of Paediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye., Ozen S; Department of Paediatric Endocrinology, Ege University Faculty of Medicine, Izmir, Türkiye., Bereket A; Department of Paediatric Endocrinology, Marmara University Faculty of Medicine, Istanbul, Türkiye., Haliloglu B; Department of Paediatric Endocrinology, Marmara University Faculty of Medicine, Istanbul, Türkiye.

Πηγή: Pediatric obesity [Pediatr Obes] 2026 Jun; Vol. 21 (6), pp. e70121.

Τύπος έκδοσης: Journal Article; Multicenter Study

Στοιχεία περιοδικού: Publisher: Wiley-Blackwell for the International Association for the Study of Obesity Country of Publication: England NLM ID: 101572033 Publication Model: Print Cited Medium: Internet ISSN: 2047-6310 (Electronic) Linking ISSN: 20476302 NLM ISO Abbreviation: Pediatr Obes Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Receptors, Leptin*/genetics , Receptor, Melanocortin, Type 4*/genetics , Pediatric Obesity*/genetics , Pediatric Obesity*/epidemiology, Pro-Opiomelanocortin/genetics ; Leptin/genetics ; Turkey/epidemiology ; Proprotein Convertase 1/genetics ; Adenylyl Cyclases/genetics ; Humans ; Female ; Child ; Retrospective Studies ; Male ; Genetic Association Studies ; Phenotype ; Adolescent ; Genotype ; Child, Preschool ; Body Mass Index

Quantitative analysis of islet prohormone convertase 1/3 expression in human pancreas donors with diabetes.

Συγγραφείς: Apaolaza PS; Institute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich-Neuherberg, Germany., Chen YC; Department of Surgery, University of British Columbia & BC Children's Hospital Research Institute, Vancouver, BC, Canada., Grewal K; Department of Surgery, University of British Columbia & BC Children's Hospital Research Institute, Vancouver, BC, Canada., Lurz Y; Technical University of Munich, Munich, Germany., Boulassel S; Institute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich-Neuherberg, Germany., Verchere CB; Department of Surgery, University of British Columbia & BC Children's Hospital Research Institute, Vancouver, BC, Canada. bverchere@bcchr.ca.; Department of Pathology and Laboratory Medicine, University of British Columbia & BC Children's Hospital Research Institute, Vancouver, BC, Canada. bverchere@bcchr.ca.; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. bverchere@bcchr.ca., Rodriguez-Calvo T; Institute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich-Neuherberg, Germany. teresa.rodriguez@helmholtz-munich.de.

Πηγή: Diabetologia [Diabetologia] 2024 Dec; Vol. 67 (12), pp. 2771-2785. Date of Electronic Publication: 2024 Oct 15.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0006777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0428 (Electronic) Linking ISSN: 0012186X NLM ISO Abbreviation: Diabetologia Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Proprotein Convertase 1*/metabolism , Proprotein Convertase 1*/genetics , Diabetes Mellitus, Type 1*/metabolism , Diabetes Mellitus, Type 1*/pathology , Islets of Langerhans*/metabolism , Islets of Langerhans*/pathology, Glucagon-Secreting Cells/metabolism ; Glucagon-Secreting Cells/pathology ; Diabetes Mellitus, Type 2/metabolism ; Diabetes Mellitus, Type 2/pathology ; Insulin-Secreting Cells/metabolism ; Insulin-Secreting Cells/pathology ; Pancreas/metabolism ; Pancreas/pathology ; Humans ; Male ; Female ; Adult ; Tissue Donors ; Middle Aged ; Cross-Sectional Studies ; Young Adult

Intestinal Nogo-B reduces GLP1 levels by binding to proglucagon on the endoplasmic reticulum to inhibit PCSK1 cleavage.

Συγγραφείς: Gong K; Department of Cardiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China.; Department of Physiology, Faculty of Basic Medical Sciences, Hubei Key Laboratory of Embryonic Stem Cell Research, Hubei University of Medicine, Shiyan, Hubei, China.; Key Laboratory of Metabolism and Regulation for Major Diseases of Anhui Higher Education Institutes, Hefei University of Technology, Hefei, Anhui, China., Xue C; College of Life Sciences, Key Laboratory of Bioactive Materials of Ministry of Education, Nankai University, Tianjin, China., Feng Z; Department of Cardiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China., Pan R; Department of Cardiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China., Wang M; Key Laboratory of Metabolism and Regulation for Major Diseases of Anhui Higher Education Institutes, Hefei University of Technology, Hefei, Anhui, China., Chen S; Key Laboratory of Metabolism and Regulation for Major Diseases of Anhui Higher Education Institutes, Hefei University of Technology, Hefei, Anhui, China., Chen Y; Key Laboratory of Metabolism and Regulation for Major Diseases of Anhui Higher Education Institutes, Hefei University of Technology, Hefei, Anhui, China., Guan Y; Department of Geriatrics, and Shenzhen Clinical Research Centre for Geriatrics, Shenzhen People's Hospital, The First Affiliated Hospital of Southern University of Science and Technology, Shenzhen, Guangdong, China., Dai L; Department of Geriatrics, and Shenzhen Clinical Research Centre for Geriatrics, Shenzhen People's Hospital, The First Affiliated Hospital of Southern University of Science and Technology, Shenzhen, Guangdong, China., Zhang S; Key Laboratory of Metabolism and Regulation for Major Diseases of Anhui Higher Education Institutes, Hefei University of Technology, Hefei, Anhui, China., Jiang L; Laboratory of Immunoengineering, Institute of Health and Medical Technology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, China., Li L; Laboratory of Immunoengineering, Institute of Health and Medical Technology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, China., Wang B; Department of Pathology, China-Japan Friendship Hospital, Beijing, China., Yin Z; Department of Cardiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China., Ma L; Department of Cardiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China., Iwakiri Y; Section of Digestive Diseases, Yale University School of Medicine, New Haven, CT, USA., Tang J; Department of Physiology, Faculty of Basic Medical Sciences, Hubei Key Laboratory of Embryonic Stem Cell Research, Hubei University of Medicine, Shiyan, Hubei, China., Liao C; Key Laboratory of Metabolism and Regulation for Major Diseases of Anhui Higher Education Institutes, Hefei University of Technology, Hefei, Anhui, China., Chen H; Department of Biochemistry & Molecular Biology, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China., Duan Y; Department of Cardiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China. yajunduan@ustc.edu.cn.

Πηγή: Nature communications [Nat Commun] 2024 Aug 10; Vol. 15 (1), pp. 6845. Date of Electronic Publication: 2024 Aug 10.

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): Diabetes Mellitus, Type 2*/metabolism , Diabetes Mellitus, Type 2*/genetics , Endoplasmic Reticulum*/metabolism , Glucagon-Like Peptide 1*/metabolism , Nogo Proteins*/metabolism , Nogo Proteins*/genetics , Proglucagon*/metabolism , Proglucagon*/genetics , Proprotein Convertase 1*/metabolism , Proprotein Convertase 1*/genetics, Enteroendocrine Cells/metabolism ; Golgi Apparatus/metabolism ; Insulin/metabolism ; Intestines/pathology ; Animals ; Humans ; Male ; Mice ; HEK293 Cells ; Insulin Resistance ; Mice, Inbred C57BL ; Mice, Knockout ; Protein Binding ; Proteolysis

A Controversy Regarding the Identity of the Enzyme That Mediates Glucagon-Like Peptide 1 Synthesis in Human Alpha Cells.

Συγγραφείς: Teitelman G; Downstate Health Sciences University, Brooklyn, New York (GT).

Πηγή: The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society [J Histochem Cytochem] 2024 Aug-Sep; Vol. 72 (8-9), pp. 545-550. Date of Electronic Publication: 2024 Sep 09.

Τύπος έκδοσης: Journal Article; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: Publisher: SAGE Publications Country of Publication: United States NLM ID: 9815334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-5044 (Electronic) Linking ISSN: 00221554 NLM ISO Abbreviation: J Histochem Cytochem Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Glucagon-Like Peptide 1*/metabolism , Glucagon-Secreting Cells*/metabolism , Proprotein Convertase 1*/metabolism , Proprotein Convertase 1*/genetics , Proprotein Convertase 2*/metabolism , Proprotein Convertase 2*/genetics, Diabetes Mellitus, Type 2/metabolism ; Diabetes Mellitus, Type 2/pathology ; Diabetes Mellitus, Type 1/metabolism ; Diabetes Mellitus, Type 1/pathology ; Glucagon/metabolism ; Humans ; Adult ; Male ; Middle Aged ; Female

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Συγγραφείς: Faccioli N; AP-HP, Trousseau Hospital, Department of Pediatric Nutrition and Gastroenterology, Reference Center for Rare Diseases PRADORT (Prader-Willi Syndrome and Other Rare Forms of Obesity With Eating Behavior Disorders), Sorbonne University, Paris, France.; INSERM, Nutrition and Obesity: Systemic Approaches, NutriOmics Research Unit, Sorbonne University, Paris, France., Poitou C; INSERM, Nutrition and Obesity: Systemic Approaches, NutriOmics Research Unit, Sorbonne University, Paris, France.; AP-HP, Pitie-Salpetriere Hospital, Nutrition Department, Reference Center for Rare Diseases (PRADORT, Prader-Willi Syndrome and Other Rare Forms of Obesity With Eating Behavior Disorders), Sorbonne University, Paris, France., Georget M; AP-HP, Pitie-Salpetriere Hospital, Functional Unit for the Genetics of Obesity and Dyslipidemia, Endocrine and Oncology Biochemistry Department, Sorbonne University, Paris, France., Bertin F; AP-HP, Pitie-Salpetriere Hospital, Functional Unit for the Genetics of Obesity and Dyslipidemia, Endocrine and Oncology Biochemistry Department, Sorbonne University, Paris, France., Azar-Kolakez A; Department of Pediatric Endocrinology and Diabetology, Reference Center for Growth and Development Endocrine Diseases, University Paris Cite, AP-HP, Robert Debre University Hospital, Paris, France., Carette C; AP-HP, Georges Pompidou European Hospital, Department of Nutrition, Specialized Obesity Centre & INSERM UMRS 1149, University Paris Cite, Paris, France., Faucher P; INSERM, Nutrition and Obesity: Systemic Approaches, NutriOmics Research Unit, Sorbonne University, Paris, France.; AP-HP, Pitie-Salpetriere Hospital, Nutrition Department, Reference Center for Rare Diseases (PRADORT, Prader-Willi Syndrome and Other Rare Forms of Obesity With Eating Behavior Disorders), Sorbonne University, Paris, France., Gatta-Cherifi B; Haut Leveque Hospital, Department of Endocrinology, Diabetology, Metabolic Diseases and Nutrition, University of Bordeaux, Pessac, France., Gonneau-Lejeune J; Félix-Guyon Hospital, Department of Pediatrics, Saint-Denis, University of La Reunion, Reunion, France., Linglart A; AP-HP, INSERM, Bicetre Paris Saclay Hospital, Endocrinology and Diabetology for Children, University Paris-Saclay, Le Kremlin-Bicetre, France., Clément K; INSERM, Nutrition and Obesity: Systemic Approaches, NutriOmics Research Unit, Sorbonne University, Paris, France.; AP-HP, Pitie-Salpetriere Hospital, Nutrition Department, Reference Center for Rare Diseases (PRADORT, Prader-Willi Syndrome and Other Rare Forms of Obesity With Eating Behavior Disorders), Sorbonne University, Paris, France., Le Beyec‐Le Bihan J; AP-HP, Pitie-Salpetriere Hospital, Functional Unit for the Genetics of Obesity and Dyslipidemia, Endocrine and Oncology Biochemistry Department, Sorbonne University, Paris, France.; INSERM, Center of Research on Inflammation, University Paris Cite, Paris, France., Dubern B; AP-HP, Trousseau Hospital, Department of Pediatric Nutrition and Gastroenterology, Reference Center for Rare Diseases PRADORT (Prader-Willi Syndrome and Other Rare Forms of Obesity With Eating Behavior Disorders), Sorbonne University, Paris, France.; INSERM, Nutrition and Obesity: Systemic Approaches, NutriOmics Research Unit, Sorbonne University, Paris, France.

Πηγή: Obesity (Silver Spring, Md.) [Obesity (Silver Spring)] 2026 Feb; Vol. 34 (2), pp. 499-511. Date of Electronic Publication: 2025 Dec 26.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101264860 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1930-739X (Electronic) Linking ISSN: 19307381 NLM ISO Abbreviation: Obesity (Silver Spring) Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Leptin*/genetics , Leptin*/metabolism , Obesity, Morbid*/genetics , Obesity, Morbid*/metabolism , Melanocortins*/genetics , Melanocortins*/metabolism, Receptor, Melanocortin, Type 4/genetics ; Receptors, Leptin/genetics ; Pro-Opiomelanocortin/genetics ; Proprotein Convertase 1/genetics ; Signal Transduction/genetics ; Humans ; Female ; Male ; High-Throughput Nucleotide Sequencing ; Child ; Adult ; Adolescent ; Retrospective Studies ; Child, Preschool ; Young Adult ; Age of Onset ; Middle Aged ; Phenotype

Differential sex-association between PCSK1 polymorphisms and obesity risk in Portuguese children.

Συγγραφείς: Manco L; Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal.; Department of Life Sciences, University of Coimbra, Coimbra, Portugal., Albuquerque D; Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal., Aranda B; Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal., Rodrigues D; Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal., Machado-Rodrigues AM; Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal.; Faculty of Sport Sciences and Physical Education, University of Coimbra, Coimbra, Portugal., Padez C; Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal.; Department of Life Sciences, University of Coimbra, Coimbra, Portugal.

Πηγή: American journal of human biology : the official journal of the Human Biology Council [Am J Hum Biol] 2024 May; Vol. 36 (5), pp. e24023. Date of Electronic Publication: 2023 Nov 27.

Τύπος έκδοσης: Journal Article; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 8915029 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1520-6300 (Electronic) Linking ISSN: 10420533 NLM ISO Abbreviation: Am J Hum Biol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Proprotein Convertase 1*/genetics, Portugal/epidemiology ; Obesity/genetics ; Obesity/epidemiology ; Overweight/genetics ; Overweight/epidemiology ; Pediatric Obesity/genetics ; Pediatric Obesity/epidemiology ; Humans ; Child ; Male ; Female ; Case-Control Studies ; Adolescent ; Child, Preschool ; Sex Factors ; Polymorphism, Genetic ; Body Mass Index ; Polymorphism, Single Nucleotide ; Genetic Predisposition to Disease ; Risk Factors

Genetic Determinants of Coronary Artery Disease in Type 2 Diabetes Mellitus Among Asian Populations: A Meta-Analysis.

Συγγραφείς: Kabibulatova A; Department of Biomedical Sciences, Nazarbayev University School of Medicine, Astana 010000, Kazakhstan., Mussina K; Department of Biomedical Sciences, Nazarbayev University School of Medicine, Astana 010000, Kazakhstan., Almazan J; Department of Medicine, Nazarbayev University School of Medicine, Astana 010000, Kazakhstan., Sarria-Santamera A; Department of Biomedical Sciences, Nazarbayev University School of Medicine, Astana 010000, Kazakhstan., Salustri A; Department of Medicine, Nazarbayev University School of Medicine, Astana 010000, Kazakhstan., Atageldiyeva K; Department of Medicine, Nazarbayev University School of Medicine, Astana 010000, Kazakhstan.; Department of Internal Medicine, Corporate Fund 'University Medical Center', Astana 010000, Kazakhstan.

Πηγή: Medical sciences (Basel, Switzerland) [Med Sci (Basel)] 2026 Jan 21; Vol. 14 (1). Date of Electronic Publication: 2026 Jan 21.

Τύπος έκδοσης: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101629322 Publication Model: Electronic Cited Medium: Internet ISSN: 2076-3271 (Electronic) Linking ISSN: 20763271 NLM ISO Abbreviation: Med Sci (Basel) Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Asian People*/genetics , Coronary Artery Disease*/epidemiology , Coronary Artery Disease*/ethnology , Coronary Artery Disease*/genetics , Diabetes Mellitus, Type 2*/complications , Diabetes Mellitus, Type 2*/ethnology , Diabetes Mellitus, Type 2*/genetics , Genetic Predisposition to Disease*/ethnology, Adiponectin/genetics ; Humans ; Polymorphism, Single Nucleotide ; Risk Factors ; Glucagon-Like Peptide-1 Receptor ; Proprotein Convertase 1

Furin may contribute to proglucagon processing and glucagon-like Peptide-1 production in human alpha cells.

Συγγραφείς: Koepke J; Department of Pharmacology and the Alberta Diabetes Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, T6G 2E1, Canada., Long W; Department of Pharmacology and the Alberta Diabetes Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, T6G 2E1, Canada., Barr A; Department of Pharmacology and the Alberta Diabetes Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, T6G 2E1, Canada., Light PE; Department of Pharmacology and the Alberta Diabetes Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, T6G 2E1, Canada. Electronic address: plight@ualberta.ca.

Πηγή: Molecular metabolism [Mol Metab] 2025 Dec; Vol. 102, pp. 102259. Date of Electronic Publication: 2025 Sep 27.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier GmbH Country of Publication: Germany NLM ID: 101605730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-8778 (Electronic) Linking ISSN: 22128778 NLM ISO Abbreviation: Mol Metab Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Glucagon-Like Peptide 1*/metabolism , Glucagon-Like Peptide 1*/biosynthesis , Furin*/metabolism , Furin*/genetics , Glucagon-Secreting Cells*/metabolism , Proglucagon*/metabolism, Glucagon/metabolism ; Proprotein Convertase 1/metabolism ; Humans ; Cells, Cultured ; Cell Line

Effects of Rare Coding Variants in Severe Early-Onset Obesity Genes in the Population-Based UK Biobank Study.

Συγγραφείς: Jia RY; University of Cambridge, Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0SL, UK., Lockhart S; University of Cambridge, Medical Research Council Metabolic Diseases Unit, Institute of Metabolic Science-Metabolic Research Laboratories, Cambridge CB2 0QQ, UK.; Queen's University Belfast, School of Medicine, Dentistry and Biomedical Sciences, Wellcome-Wolfson Institute for Experimental Medicine, Belfast BT9 7BL, UK., Lam BYH; University of Cambridge, Medical Research Council Metabolic Diseases Unit, Institute of Metabolic Science-Metabolic Research Laboratories, Cambridge CB2 0QQ, UK., Zhao Y; University of Cambridge, Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0SL, UK., Kentistou KA; University of Cambridge, Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0SL, UK., Gardner EJ; University of Cambridge, Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0SL, UK., Farooqi IS; University of Cambridge, Medical Research Council Metabolic Diseases Unit, Institute of Metabolic Science-Metabolic Research Laboratories, Cambridge CB2 0QQ, UK., O'Rahilly S; University of Cambridge, Medical Research Council Metabolic Diseases Unit, Institute of Metabolic Science-Metabolic Research Laboratories, Cambridge CB2 0QQ, UK., Day FR; University of Cambridge, Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0SL, UK., Ong KK; University of Cambridge, Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0SL, UK.; University of Cambridge, Department of Paediatrics, Cambridge CB2 3RF, UK., Perry JRB; University of Cambridge, Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0SL, UK.; University of Cambridge, Medical Research Council Metabolic Diseases Unit, Institute of Metabolic Science-Metabolic Research Laboratories, Cambridge CB2 0QQ, UK.

Πηγή: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2025 Oct 16; Vol. 110 (11), pp. e3774-e3782.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Pediatric Obesity*/genetics , Pediatric Obesity*/epidemiology , Obesity, Morbid*/genetics , Obesity, Morbid*/epidemiology, United Kingdom/epidemiology ; Pro-Opiomelanocortin/genetics ; Proprotein Convertase 1/genetics ; Obesity/genetics ; Obesity/epidemiology ; Humans ; Male ; Female ; Biological Specimen Banks ; Body Mass Index ; Adult ; Genetic Predisposition to Disease ; Age of Onset ; Middle Aged ; Penetrance ; Heterozygote ; Exome Sequencing ; Multifactorial Inheritance ; Child ; Loss of Function Mutation ; UK Biobank

Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.

Συγγραφείς: Folon L; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Baron M; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Toussaint B; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Vaillant E; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Boissel M; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Scherrer V; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Loiselle H; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Leloire A; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Badreddine A; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Balkau B; Paris-Saclay University, Paris-Sud University, Université de Versailles Saint-Quentin-en-Yvelines, Center for Research in Epidemiology and Population Health, Inserm U1018 Clinical Epidemiology, Villejuif, France., Charpentier G; Centre d'Étude et de Recherche pour l'Intensification du Traitement du Diabète, Evry, France., Franc S; Centre d'Étude et de Recherche pour l'Intensification du Traitement du Diabète, Evry, France; Department of Diabetes, Sud-Francilien Hospital, Paris-Sud University, Corbeil-Essonnes, France., Marre M; Institut Necker-Enfants Malades, INSERM, Université de Paris, Paris, France; Clinique Ambroise Paré, Neuilly-sur-Seine, France., Aboulouard S; Université de Lille, Lille, France; Inserm U1192, Laboratoire Protéomique, Réponse Inflammatoire et Spectrométrie de Masse, Lille, France., Salzet M; Université de Lille, Lille, France; Inserm U1192, Laboratoire Protéomique, Réponse Inflammatoire et Spectrométrie de Masse, Lille, France., Canouil M; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Derhourhi M; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France., Froguel P; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France; Department of Metabolism, Imperial College London, London, UK., Bonnefond A; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille University Hospital, Lille, France; Université de Lille, Lille, France; Department of Metabolism, Imperial College London, London, UK. Electronic address: amelie.bonnefond@cnrs.fr.

Πηγή: The lancet. Diabetes & endocrinology [Lancet Diabetes Endocrinol] 2023 Mar; Vol. 11 (3), pp. 182-190.

Τύπος έκδοσης: Journal Article; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: Publisher: The Lancet, Diabetes & Endocrinology Country of Publication: England NLM ID: 101618821 Publication Model: Print Cited Medium: Internet ISSN: 2213-8595 (Electronic) Linking ISSN: 22138587 NLM ISO Abbreviation: Lancet Diabetes Endocrinol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Diabetes Mellitus, Type 2*/genetics , Obesity*/genetics , Overweight*/genetics , Proprotein Convertase 1*/genetics, Adolescent ; Adult ; Child ; Humans ; Case-Control Studies ; Precision Medicine

Prohormone cleavage prediction uncovers a non-incretin anti-obesity peptide.

Συγγραφείς: Coassolo L; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA., B Danneskiold-Samsøe N; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA, USA., Nguyen Q; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Wiggenhorn A; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Chemistry, Stanford University, Stanford, CA, USA.; Sarafan ChEM-H, Stanford University, Stanford, CA, USA., Zhao M; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA., Wang DC; Department of Biology and Howard Hughes Medical Institute, Stanford University, Stanford, CA, USA., Toomer D; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Lone J; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA., Wei Y; Departments of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA., Patel A; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Liparulo I; Department of Nutrition and Toxicology, University of California Berkeley, Berkeley, CA, USA., Kavi D; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Wat LW; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA., Reghupaty SC; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA., Kim JJ; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA, USA., Asemi T; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Bielczyk-Maczynska E; The Hormel Institute, University of Minnesota, Austin, MN, USA., Li VL; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Chemistry, Stanford University, Stanford, CA, USA.; Sarafan ChEM-H, Stanford University, Stanford, CA, USA., Moya-Garzon MD; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Sarafan ChEM-H, Stanford University, Stanford, CA, USA., Krentz NAJ; Division of Endocrinology, Department of Pediatrics, Stanford School of Medicine, Stanford University, Stanford, CA, USA.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada., Stahl A; Department of Nutrition and Toxicology, University of California Berkeley, Berkeley, CA, USA., Chou DH; Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA, USA.; Division of Endocrinology, Department of Pediatrics, Stanford School of Medicine, Stanford University, Stanford, CA, USA., Luo L; Department of Biology and Howard Hughes Medical Institute, Stanford University, Stanford, CA, USA., Svensson KJ; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA. katrinjs@stanford.edu.; Stanford Diabetes Research Center, Stanford University School of Medicine, Stanford, CA, USA. katrinjs@stanford.edu.; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA. katrinjs@stanford.edu.

Πηγή: Nature [Nature] 2025 May; Vol. 641 (8061), pp. 192-201. Date of Electronic Publication: 2025 Mar 05.

Τύπος έκδοσης: Journal Article; Research Support, N.I.H., Extramural

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): Obesity*/drug therapy , Obesity*/metabolism , Anti-Obesity Agents*/pharmacology , Anti-Obesity Agents*/metabolism , Anti-Obesity Agents*/chemistry , Peptides*/pharmacology , Peptides*/metabolism , Peptides*/chemistry , Proteolysis*, Proprotein Convertase 1/metabolism ; Eating/drug effects ; Body Weight/drug effects ; Leptin/metabolism ; Proto-Oncogene Proteins c-fos/metabolism ; Receptor, Melanocortin, Type 4/metabolism ; Glucagon-Like Peptide-1 Receptor/metabolism ; Peptide Fragments/metabolism ; Peptide Fragments/pharmacology ; Peptide Fragments/chemistry ; Peptide Hormones/metabolism ; Animals ; Mice ; Humans ; Male ; Swine ; Female ; Mice, Inbred C57BL ; Drug Discovery