PMC Articles for MedGen (Select 351246) - PMC

Select item 34588801.

Hypoglycaemia related to inherited metabolic diseases in adults

Claire Douillard, Karine Mention, Dries Dobbelaere, Jean-Louis Wemeau, Jean-Marie Saudubray, Marie-Christine Vantyghem

Orphanet J Rare Dis. 2012; 7: 26. Published online 2012 May 15. doi: 10.1186/1750-1172-7-26

PMCID:: PMC3458880

Select item 33796502.

Overexpression of Monocarboxylate Transporter-1 (Slc16a1) in Mouse Pancreatic β-Cells Leads to Relative Hyperinsulinism During Exercise

Timothy J. Pullen, Lykke Sylow, Gao Sun, Andrew P. Halestrap, Erik A. Richter, Guy A. Rutter

Diabetes. 2012 Jul; 61(7): 1719–1725. Published online 2012 Jun 15. doi: 10.2337/db11-1531

PMCID:: PMC3379650

Abstract Article PDF–1.3M

Select item 19508283.

Physical Exercise–Induced Hypoglycemia Caused by Failed Silencing of Monocarboxylate Transporter 1 in Pancreatic β Cells

Timo Otonkoski, Hong Jiao, Nina Kaminen-Ahola, Isabel Tapia-Paez, Mohammed S. Ullah, Laura E. Parton, Frans Schuit, Roel Quintens, Ilkka Sipilä, Ertan Mayatepek, Thomas Meissner, Andrew P. Halestrap, Guy A. Rutter, Juha Kere

Am J Hum Genet. 2007 Sep; 81(3): 467–474. Published online 2007 Jul 26. doi: 10.1086/520960

PMCID:: PMC1950828

Abstract Article PDF–519K

Select item 96718654.

Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome

Kara E. Boodhansingh, Elizabeth Rosenfeld, Katherine Lord, N. Scott Adzick, Tricia Bhatti, Arupa Ganguly, Diva D. De Leon, Charles A. Stanley

Horm Res Paediatr. 2022 Nov; 95(5): 492–498. Published online 2022 Aug 11. doi: 10.1159/000526203

PMCID:: PMC9671865

Abstract Article

Select item 92338105.

Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russel T. Shinohara, Ravinder Reddy, Kathryn A. Davis, Diva D. De León

Orphanet J Rare Dis. 2022; 17: 248. Published online 2022 Jun 25. doi: 10.1186/s13023-022-02398-3

Correction in:: Orphanet J Rare Dis. 2022; 17: 315.

PMCID:: PMC9233810

Abstract Article PDF–1.3M

Select item 87514096.

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome

Mohammad Marhabaie, Scott E. Hickey, Katherine Miller, Olivia Grischow, Kathleen M. Schieffer, Samuel J. Franklin, David M. Gordon, Samantha Choi, Theresa Mihalic Mosher, Peter White, Daniel C. Koboldt, Richard K. Wilson

Cold Spring Harb Mol Case Stud. 2021 Dec; 7(6): a006122. doi: 10.1101/mcs.a006122

PMCID:: PMC8751409

Abstract Article PDF–1.6M

Select item 55733137.

Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase

Daniela Šimčíková, Lucie Kocková, Kateřina Vackářová, Miroslav Těšínský, Petr Heneberg

Sci Rep. 2017; 7: 9499. Published online 2017 Aug 25. doi: 10.1038/s41598-017-09810-0

PMCID:: PMC5573313

Abstract Article PDF–4.5M

Select item 32173408.

Familial Focal Congenital Hyperinsulinism

Dunia Ismail, Virpi V. Smith, Pascale de Lonlay, Maria-Joao Ribeiro, Jacques Rahier, Oliver Blankenstein, Sarah E. Flanagan, Christine Bellanné-Chantelot, Virginie Verkarre, Yves Aigrain, Agostino Pierro, Sian Ellard, Khalid Hussain

J Clin Endocrinol Metab. 2011 Jan; 96(1): 24–28. Published online 2010 Oct 13. doi: 10.1210/jc.2010-1524

PMCID:: PMC3217340

Abstract Article

Select item 18451569.

Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene

Ewan R Pearson, Sylvia F Boj, Anna M Steele, Timothy Barrett, Karen Stals, Julian P Shield, Sian Ellard, Jorge Ferrer, Andrew T Hattersley

PLoS Med. 2007 Apr; 4(4): e118. Published online 2007 Apr 3. doi: 10.1371/journal.pmed.0040118

PMCID:: PMC1845156

Abstract Article PDF–260K

Select item 50897510.

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

V Verkarre, J C Fournet, P de Lonlay, M S Gross-Morand, M Devillers, J Rahier, F Brunelle, J J Robert, C Nihoul-Fékété, J M Saudubray, C Junien

J Clin Invest. 1998 Oct 1; 102(7): 1286–1291. doi: 10.1172/JCI4495

PMCID:: PMC508975

Summary PDF–356K

Select item 856489211.

Basigin deficiency prevents anaplerosis and ameliorates insulin resistance and hepatosteatosis

Akihiro Ryuge, Tomoki Kosugi, Kayaho Maeda, Ryoichi Banno, Yang Gou, Kei Zaitsu, Takanori Ito, Yuka Sato, Akiyoshi Hirayama, Shoma Tsubota, Takashi Honda, Kazuki Nakajima, Tomoya Ozaki, Kunio Kondoh, Kazuo Takahashi, Noritoshi Kato, Takuji Ishimoto, Tomoyoshi Soga, Takahiko Nakagawa, Teruhiko Koike, Hiroshi Arima, Yukio Yuzawa, Yasuhiko Minokoshi, Shoichi Maruyama, Kenji Kadomatsu

JCI Insight. 2021 Oct 22; 6(20): e142464. Published online 2021 Oct 22. doi: 10.1172/jci.insight.142464

PMCID:: PMC8564892

Abstract Article PDF–2.5M

Select item 825735912.

The Association between the rs312457 Genotype of the SLC16a13 Gene and Diabetes Mellitus in a Chinese Population

Hui Zheng, Suying Pu, Yu Zhang, Yujuan Fan, Jialin Yang

Comput Math Methods Med. 2021; 2021: 9918055. Published online 2021 Jun 26. doi: 10.1155/2021/9918055

PMCID:: PMC8257359

Abstract Article PDF–345K

Select item 824965313.

Deletion of the diabetes candidate gene Slc16a13 in mice attenuates diet-induced ectopic lipid accumulation and insulin resistance

Tina Schumann, Jörg König, Christian von Loeffelholz, Daniel F. Vatner, Dongyan Zhang, Rachel J. Perry, Michel Bernier, Jason Chami, Christine Henke, Anica Kurzbach, Nermeen N. El-Agroudy, Diana M. Willmes, Dominik Pesta, Rafael de Cabo, John F. O´Sullivan, Eric Simon, Gerald I. Shulman, Bradford S. Hamilton, Andreas L. Birkenfeld

Commun Biol. 2021; 4: 826. Published online 2021 Jul 1. doi: 10.1038/s42003-021-02279-8