PMC Links for Protein (Select 118582255) - PMC

Select item 66475091.

Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning

Jinwen Ni, Jingjie Ge, Miaoying Zhang, Khalid Hussain, Yihui Guan, Ruoqian Cheng, Li Xi, Zhangqian Zheng, Shuhua Ren, Feihong Luo

Eur J Pediatr. 2019; 178(8): 1161–1169. Published online 2019 Jun 19. doi: 10.1007/s00431-019-03408-6

PMCID:: PMC6647509

Abstract Article PDF–2.9M

Select item 64164252.

ATP binding without hydrolysis switches sulfonylurea receptor 1 (SUR1) to outward-facing conformations that activate K_ATP channels

Jelena Sikimic, Timothy S. McMillen, Cita Bleile, Frank Dastvan, Ulrich Quast, Peter Krippeit-Drews, Gisela Drews, Joseph Bryan

J Biol Chem. 2019 Mar 8; 294(10): 3707–3719. Published online 2018 Dec 26. doi: 10.1074/jbc.RA118.005236

PMCID:: PMC6416425

Abstract Article PDF–2.0M

Select item 62068773.

Loss of Function ABCC8 Mutations in Pulmonary Arterial Hypertension

Michael S. Bohnen, Lijiang Ma, Na Zhu, Hongjian Qi, Conor McClenaghan, Claudia Gonzaga-Jauregui, Frederick E. Dewey, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Aris Baras, Kevin J. Sampson, Marta Bleda, Charaka Hadinnapola, Matthias Haimel, Harm J. Bogaard, Colin Church, Gerry Coghlan, Paul A. Corris, Mélanie Eyries, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Marc Humbert, Christophe Guignabert, David G. Kiely, Allan Lawrie, Rob V. MacKenzie Ross, Jennifer M. Martin, David Montani, Andrew J. Peacock, Joanna Pepke-Zaba, Florent Soubrier, Jay Suntharalingam, Mark Toshner, Carmen M. Treacy, Richard C. Trembath, Anton Vonk Noordegraaf, John Wharton, Martin R. Wilkins, Stephen J. Wort, Katherine Yates, Stefan Gräf, Nicholas W. Morrell, Usha Krishnan, Erika B. Rosenzweig, Yufeng Shen, Colin G. Nichols, Robert S. Kass, Wendy K. Chung

Circ Genom Precis Med. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Circ Genom Precis Med. 2018 Oct; 11(10): e002087. doi: 10.1161/CIRCGEN.118.002087

PMCID:: PMC6206877

Abstract Article PDF–897K

Select item 57042224.

Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation

Caroline Lenfant, Patrick Baz, Anne Degavre, Anne Philippi, Valérie Senée, Claire Vandiedonck, Céline Derbois, Marc Nicolino, Pierre Zalloua, Cécile Julier

Genes (Basel) 2017 Nov; 8(11): 309. Published online 2017 Nov 7. doi: 10.3390/genes8110309

PMCID:: PMC5704222

Abstract Article PDF–1.0M

Select item 42272055.

Orthologs of Human Disease Associated Genes and RNAi Analysis of Silencing Insulin Receptor Gene in Bombyx mori

Zan Zhang, Xiaolu Teng, Maohua Chen, Fei Li

Int J Mol Sci. 2014 Oct; 15(10): 18102–18116. Published online 2014 Oct 9. doi: 10.3390/ijms151018102

PMCID:: PMC4227205

Abstract Article PDF–1.1M

Select item 36006326.

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations

Flavio Faletra, Kara Snider, Show-Ling Shyng, Irene Bruno, Emmanouil Athanasakis, Paolo Gasparini, Carlo Dionisi-Vici, Alessandro Ventura, Qing Zhou, Charles A. Stanley, Alberto Burlina

Gene. Author manuscript; available in PMC 2013 Mar 18.

Published in final edited form as: Gene. 2013 Mar 1; 516(1): 122–125. Published online 2012 Dec 22. doi: 10.1016/j.gene.2012.12.055

PMCID:: PMC3600632

Abstract Article PDF–612K

Select item 32837387.

Identification of Putative Potassium Channel Homologues in Pathogenic Protozoa

David L. Prole, Neil V. Marrion

PLoS One. 2012; 7(2): e32264. Published online 2012 Feb 21. doi: 10.1371/journal.pone.0032264

PMCID:: PMC3283738

Abstract Article PDF–3.1M

Select item 29379008.

Ankyrin-B Regulates Kir6.2 Membrane Expression and Function in Heart

Jingdong Li, Crystal F. Kline, Thomas J. Hund, Mark E. Anderson, Peter J. Mohler

J Biol Chem. 2010 Sep 10; 285(37): 28723–28730. Published online 2010 Jul 7. doi: 10.1074/jbc.M110.147868

PMCID:: PMC2937900

Abstract Article PDF–1.3M

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