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hyperinsulinism caused by INSR mutation相关文献:
Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation.
Rojek A, Wikiera B, Noczynska A, Niedziela M.
J Clin Res Pediatr Endocrinol. 2023 Aug 23;15(3):312-317. doi: 10.4274/jcrpe.galenos.2021.2021.0256. Epub 2021 Dec 30.
PMID:34965699
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC.
Ann Endocrinol (Paris). 2020 Jun;81(2-3):110-117. doi: 10.1016/j.ando.2020.04.003. Epub 2020 Apr 10.
PMID:32409005
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the beta-subunit of the insulin receptor (INSR) gene.
Takasawa K, Tsuji-Hosokawa A, Takishima S, Wada Y, Nagasaki K, Dateki S, Numakura C, Hijikata A, Shirai T, Kashimada K, Morio T.
J Diabetes. 2019 Jan;11(1):46-54. doi: 10.1111/1753-0407.12797. Epub 2018 Jul 4.
PMID:29877041
Metabolism and insulin signaling in common metabolic disorders and inherited insulin resistance.
Højlund K.
Dan Med J. 2014 Jul;61(7):B4890.
PMID:25123125
Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism.
Wolschendorf R, Eimicke T, Swartz J.
JCEM Case Rep. 2023 Aug 14;1(4):luad089. doi: 10.1210/jcemcr/luad089. eCollection 2023 Jul.
PMID:37908999
Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion.
Verdecchia F, Akcan N, Dastamani A, Morgan K, Semple RK, Shah P.
Horm Res Paediatr. 2020;93(6):396-401. doi: 10.1159/000510462. Epub 2020 Oct 9.
PMID:33040071
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, Barbetti F; Diabetes Study Group of Italian Society for Pediatric Endocrinology and Diabetes (ISPED).
J Clin Endocrinol Metab. 2024 Aug 13;109(9):2349-2357. doi: 10.1210/clinem/dgae095.
PMID:38408297
Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation.
Innaurato S, Brierley GV, Grasso V, Massimi A, Gaudino R, Sileno S, Bernardini S, Semple R, Barbetti F.
Pediatr Diabetes. 2018 Jun;19(4):670-674. doi: 10.1111/pedi.12632. Epub 2018 Feb 7.
PMID:29411486
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
Hosoe J, Kadowaki H, Miya F, Aizu K, Kawamura T, Miyata I, Satomura K, Ito T, Hara K, Tanaka M, Ishiura H, Tsuji S, Suzuki K, Takakura M, Boroevich KA, Tsunoda T, Yamauchi T, Shojima N, Kadowaki T.
Diabetes. 2017 Oct;66(10):2713-2723. doi: 10.2337/db17-0301. Epub 2017 Aug 1.
PMID:28765322
Analysis of compensatory beta-cell response in mice with combined mutations of Insr and Irs2.
Kim JJ, Kido Y, Scherer PE, White MF, Accili D.
Am J Physiol Endocrinol Metab. 2007 Jun;292(6):E1694-701. doi: 10.1152/ajpendo.00430.2006. Epub 2007 Feb 13.
PMID:17299086
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