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hyperinsulinism caused by glucokinase-activatmg mutation相关文献:
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
Obesity caused by an OVOL2 mutation reveals dual roles of OVOL2 in promoting thermogenesis and limiting white adipogenesis.
Zhang Z, Jiang Y, Su L, Ludwig S, Zhang X, Tang M, Li X, Anderton P, Zhan X, Choi M, Russell J, Bu CH, Lyon S, Xu D, Hildebrand S, Scott L, Quan J, Simpson R, Sun Q, Qin B, Collie T, Tadesse M, Moresco EMY, Beutler B.
Cell Metab. 2022 Nov 1;34(11):1860-1874.e4. doi: 10.1016/j.cmet.2022.09.018. Epub 2022 Oct 12.
PMID:36228616
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran A, Proskorovski-Ohayon R, Eskin-Schwartz M, Yogev Y, Drabkin M, Eremenko E, Aharoni S, Freund O, Jean MM, Agam N, Hadar N, Loewenthal N, Staretz-Chacham O, Birk OS.
J Inherit Metab Dis. 2023 Jul;46(4):744-755. doi: 10.1002/jimd.12594. Epub 2023 Feb 9.
PMID:36695547
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A.
J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63. doi: 10.1210/jc.2012-2169. Epub 2012 Dec 28.
PMID:23275527
Advances in lipodystrophy syndrome caused by LMNA gene mutation.
Xiao C, Liu JY, Yang CR, Yu M.
Yi Chuan. 2022 Oct 20;44(10):913-925. doi: 10.16288/j.yczz.22-225.
PMID:36384727
Convergent somatic mutations in metabolism genes in chronic liver disease.
Ng SWK, Rouhani FJ, Brunner SF, Brzozowska N, Aitken SJ, Yang M, Abascal F, Moore L, Nikitopoulou E, Chappell L, Leongamornlert D, Ivovic A, Robinson P, Butler T, Sanders MA, Williams N, Coorens THH, Teague J, Raine K, Butler AP, Hooks Y, Wilson B, Birtchnell N, Naylor H, Davies SE, Stratton MR, Martincorena I, Rahbari R, Frezza C, Hoare M, Campbell PJ.
Nature. 2021 Oct;598(7881):473-478. doi: 10.1038/s41586-021-03974-6. Epub 2021 Oct 13.
PMID:34646017
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
Martínez R, Gutierrez-Nogués Á, Fernández-Ramos C, Velayos T, Vela A; Spanish Congenital Hyperinsulinism Group; Navas MÁ, Castaño L.
Clin Endocrinol (Oxf). 2017 Jun;86(6):778-783. doi: 10.1111/cen.13318. Epub 2017 Mar 27.
PMID:28247534
Adipokines and aging.
Arai Y, Takayama M, Abe Y, Hirose N.
J Atheroscler Thromb. 2011;18(7):545-50. doi: 10.5551/jat.7039. Epub 2011 May 7.
PMID:21551960
Congenital hyperinsulinism.
Hussain K.
Semin Fetal Neonatal Med. 2005 Aug;10(4):369-76. doi: 10.1016/j.siny.2005.03.001.
PMID:15916932
Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.
Larsen AR, Brusgaard K, Christesen HT, Detlefsen S.
Histol Histopathol. 2024 Jul;39(7):817-844. doi: 10.14670/HH-18-709. Epub 2024 Jan 12.
PMID:38305063
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