Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.-论文-万方医学网

第一作者： Maiko,Matsui

第一单位： Cardiovascular Research Institute, Weill Cornell Medicine, 413 E. 69th St., New York, NY, 10021, USA.

作者： Maiko,Matsui ^[1] ; Lauren E,Lynch ^[1] ; Isabella,Distefano ^[1] ; Allison,Galante ^[1] ; Aravind R,Gade ^[1] ; Hong-Gang,Wang ^[1] ; Nicolas,Gómez-Banoy ^[2] ; Patrick,Towers ^[1] ; Daniel S,Sinden ^[1] ; Eric Q,Wei ^[3] ; Adam S,Barnett ^[3] ; Kenneth,Johnson ^[1] ; Renan,Lima ^[4] ; Alfonso,Rubio-Navarro ^[2] ; Ang K,Li ^[2] ; Steven O,Marx ^[5] ; Timothy E,McGraw ^[6] ; Paul S,Thornton ^[7] ; Katherine W,Timothy ^[8] ; James C,Lo ^[9] ; Geoffrey S,Pitt ^[10]

作者单位： Cardiovascular Research Institute, Weill Cornell Medicine, 413 E. 69th St., New York, NY, 10021, USA. ^[1] Cardiovascular Research Institute, Weill Cornell Medicine, 413 E. 69th St., New York, NY, 10021, USA.;Weill Center for Metabolic Health, Weill Cornell Medicine, 413 E. 69th St., New York, NY, 10021, USA. ^[2] Department of Medicine, MSRB II, 2 Genome Ct, Duke University Medical Center, Durham, NC, 27710, USA. ^[3] Weill Center for Metabolic Health, Weill Cornell Medicine, 413 E. 69th St., New York, NY, 10021, USA. ^[4] Division of Cardiology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, 622 W 168th St, PH-3 Center, New York, NY, USA.;Department of Pharmacology, Vagelos College of Physicians and Surgeons, Columbia University, 622 W 168th St, PH-3 Center, New York, NY, USA. ^[5] Department of Biochemistry, Weill Cornell Medical College, 1300 York Ave, New York, NY, 10065, USA. ^[6] Division of Endocrinology and Diabetes, Cook Children's Medical Center, 801 7th Ave, Fort Worth, TX, 76104, USA. ^[7] Children's Hospital Boston, Harvard Medical School, 300 Longwood Ave., Boston, MA, 02115, USA. ^[8] Cardiovascular Research Institute, Weill Cornell Medicine, 413 E. 69th St., New York, NY, 10021, USA.;Weill Center for Metabolic Health, Weill Cornell Medicine, 413 E. 69th St., New York, NY, 10021, USA.;Division of Cardiology, Department of Medicine, Weill Cornell Medicine, 413 E. 69th St, New York, NY, 10021, USA. ^[9] Cardiovascular Research Institute, Weill Cornell Medicine, 413 E. 69th St., New York, NY, 10021, USA. geoffrey.pitt@med.cornell.edu. ^[10]

医学主题词动物(Animals);钙通道, L型(Calcium Channels, L-Type);低血糖症(Hypoglycemia);胰岛素分泌细胞(Insulin-Secreting Cells);并指(趾)(Syndactyly);QT延长综合征(Long QT Syndrome);孤独性障碍(Autistic Disorder);小鼠(Mice);人类(Humans);疾病模型, 动物(Disease Models, Animal);男(雄)性(Male);胰高血糖素(Glucagon);女(雌)性(Female);突变(Mutation);葡萄糖(Glucose);钙(Calcium);基因敲入技术(Gene Knock-In Techniques);高胰岛素血症(Hyperinsulinism);胰岛素(Insulin);内环境稳定(Homeostasis);下丘脑(Hypothalamus);血糖(Blood Glucose)

DOI 10.1038/s41467-024-52885-3

PMID 39420001

发布时间 2025-06-02

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Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.

Nature communications

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Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.

Nature communications

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同项目论文

Nature communications

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