PMC Links for Protein (Select 543173167) - PMC

Select item 60755431.

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Katja Lohmann, Ikuo Masuho, Dipak N. Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K. Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A. Martemyanov

Hum Mol Genet. 2017 Mar 15; 26(6): 1078–1086. Published online 2017 Jan 13. doi: 10.1093/hmg/ddx018

PMCID:: PMC6075543

Abstract Article PDF–781K

Select item 56663222.

An activating mutation of GNB1 is associated with resistance to tyrosine kinase inhibitors in ETV6-ABL1-positive leukemia

O Zimmermannova, E Doktorova, J Stuchly, V Kanderova, D Kuzilkova, H Strnad, J Starkova, M Alberich-Jorda, J H F Falkenburg, J Trka, J Petrak, J Zuna, M Zaliova

Oncogene. 2017 Oct 26; 36(43): 5985–5994. Published online 2017 Jun 26. doi: 10.1038/onc.2017.210

PMCID:: PMC5666322

Abstract Article PDF–2.0M

Select item 48635623.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane-Yeboa, Benjamin Cogné, Martin Bialer, Fan Xia, Parisa Hemati, James Riviello, Michele Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding-Byth, Amy L. Schneider, Geoffrey Wallace, University of Washington Center for Mendelian Genomics, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa Grebe, Alice Basinger, Joanne M. Nguyen, Stéphane Bézieau, Klaas Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

Am J Hum Genet. 2016 May 5; 98(5): 1001–1010. Published online 2016 Apr 21. doi: 10.1016/j.ajhg.2016.03.011

PMCID:: PMC4863562

Abstract Article PDF–530K

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