PMC Links for Nucleotide (Select 224586939) - PMC

Select item 61616501.

Mutations in IRS4 are associated with central hypothyroidism

Charlotte A Heinen, Emmely M de Vries, Mariëlle Alders, Hennie Bikker, Nitash Zwaveling-Soonawala, Erica L T van den Akker, Boudewijn Bakker, Gera Hoorweg-Nijman, Ferdinand Roelfsema, Raoul C Hennekam, Anita Boelen, A S Paul van Trotsenburg, Eric Fliers

J Med Genet. 2018 Oct; 55(10): 693–700. Published online 2018 Jul 30. doi: 10.1136/jmedgenet-2017-105113

PMCID:: PMC6161650

Abstract Article PDF–699K

Select item 60370252.

Phosphorylation of IRS4 by CK1γ2 promotes its degradation by CHIP through the ubiquitin/lysosome pathway

Xinchun Li, Li Zhong, Zhuo Wang, Huiming Chen, Dan Liao, Ruhua Zhang, Hongyu Zhang, Tiebang Kang

Theranostics. 2018; 8(13): 3643–3653. Published online 2018 Jun 7. doi: 10.7150/thno.26021

PMCID:: PMC6037025

Abstract Article PDF–1.3M

Select item 57918823.

Pan-cancer analysis of somatic copy number alterations implicates IRS4 and IGF2 in enhancer hijacking

Joachim Weischenfeldt, Taronish Dubash, Alexandros P. Drainas, Balca R. Mardin, Yuanyuan Chen, Adrian M. Stütz, Sebastian M. Waszak, Graziella Bosco, Ann Rita Halvorsen, Benjamin Raeder, Theocharis Efthymiopoulos, Serap Erkek, Christine Siegl, Hermann Brenner, Odd Terje Brustugun, Sebastian M. Dieter, Paul A. Northcott, Iver Petersen, Stefan M. Pfister, Martin Schneider, Steinar K. Solberg, Erik Thunissen, Wilko Weichert, Thomas Zichner, Roman Thomas, Martin Peifer, Aslaug Helland, Claudia R. Ball, Martin Jechlinger, Rocio Sotillo, Hanno Glimm, Jan O. Korbel

Nat Genet. Author manuscript; available in PMC 2018 Jan 31.

Published in final edited form as: Nat Genet. 2017 Jan; 49(1): 65–74. Published online 2016 Nov 21. doi: 10.1038/ng.3722

PMCID:: PMC5791882

Abstract Article PDF–1.6M

Select item 850684.

IRS-4 Mediates Protein Kinase B Signaling during Insulin Stimulation without Promoting Antiapoptosis

Tohru Uchida, Martin G. Myers, Jr., Morris F. White

Mol Cell Biol. 2000 Jan; 20(1): 126–138. doi: 10.1128/mcb.20.1.126-138.2000

PMCID:: PMC85068

Abstract Article PDF–2.3M

Select item 66769095.

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family

Gloria T. Haskell, Brian C. Jensen, Cecile Skrzynia, Thelsa Pulikkotil, Christian R. Tilley, Yurong Lu, Daniel S. Marchuk, Leigh Ann Samsa, Kirk C. Wilhelmsen, Ethan Lange, Cam Patterson, James P. Evans, Jonathan S. Berg

J Heart Valve Dis. Author manuscript; available in PMC 2019 Aug 2.

Published in final edited form as: J Heart Valve Dis. 2017 Sep; 26(5): 569–580.

PMCID:: PMC6676909

Abstract Article PDF–1.8M

Select item 57329276.

Circulating microRNA (miRNA) Expression Profiling in Plasma of Patients with Gestational Diabetes Mellitus Reveals Upregulation of miRNA miR-330-3p

Guido Sebastiani, Elisa Guarino, Giuseppina Emanuela Grieco, Caterina Formichi, Chiara Delli Poggi, Elena Ceccarelli, Francesco Dotta

Front Endocrinol (Lausanne) 2017; 8: 345. Published online 2017 Dec 12. doi: 10.3389/fendo.2017.00345

PMCID:: PMC5732927

Abstract Article PDF–2.1M

Select item 55581807.

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction

Renée Carroll, Raman Kumar, Marie Shaw, Jennie Slee, Vera M Kalscheuer, Mark A Corbett, Jozef Gecz

Eur J Hum Genet. 2017 Sep; 25(9): 1078–1082. Published online 2017 Jun 14. doi: 10.1038/ejhg.2017.97

PMCID:: PMC5558180

Abstract Article PDF–945K

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