PMC Links for Books (Select 4948698) - PMC

Select item 76673151.

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

Laura Schultz‐Rogers, Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas Wierenga, Kirill A. Martemyanov, Eric W. Klee

Mol Genet Genomic Med. 2020 Nov; 8(11): e1477. Published online 2020 Sep 12. doi: 10.1002/mgg3.1477

PMCID:: PMC7667315

Abstract Article PDF–896K

Select item 64898712.

Novel West syndrome candidate genes in a Chinese cohort

Jing Peng, Ying Wang, Fang He, Chen Chen, Li‐Wen Wu, Li‐Fen Yang, Yu‐Ping Ma, Wen Zhang, Zi‐Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang

CNS Neurosci Ther. 2018 Dec; 24(12): 1196–1206. Published online 2018 Apr 17. doi: 10.1111/cns.12860

PMCID:: PMC6489871

Abstract Article PDF–1.0M

Select item 60755433.

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 59660164.

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy L. Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G. Mehaffey, Samuel F. Berkovic, Gemma L. Carvill, Lynette G. Sadleir, Ingrid E. Scheffer, Heather C. Mefford

N Engl J Med. Author manuscript; available in PMC 2018 Oct 26.

Published in final edited form as: N Engl J Med. 2018 Apr 26; 378(17): 1646–1648. doi: 10.1056/NEJMc1714579

PMCID:: PMC5966016

Article PDF–288K

Select item 50228445.

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, Alexander Münchau

Neurol Genet. 2016 Oct; 2(5): e106. Published online 2016 Sep 13. doi: 10.1212/NXG.0000000000000106

PMCID:: PMC5022844

Article PDF–227K

Select item 48635626.

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

Select item 42891157.

Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance

Akinori Yoda, Guillaume Adelmant, Jerome Tamburini, Bjoern Chapuy, Nobuaki Shindoh, Yuka Yoda, Oliver Weigert, Nadja Kopp, Shuo-Chieh Wu, Sunhee S. Kim, Huiyun Liu, Trevor Tivey, Amanda L. Christie, Kutlu G. Elpek, Joseph Card, Kira Gritsman, Jason Gotlib, Michael W. Deininger, Hideki Makishima, Shannon J. Turley, Nathalie Javidi-Sharifi, Jaroslaw P. Maciejewski, Siddhartha Jaiswal, Benjamin L. Ebert, Scott J. Rodig, Jeffrey W. Tyner, Jarrod A. Marto, David M. Weinstock, Andrew A. Lane

Nat Med. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Nat Med. 2015 Jan; 21(1): 71–75. Published online 2014 Dec 8. doi: 10.1038/nm.3751

PMCID:: PMC4289115

Abstract Article PDF–913K

Select item 26887138.

G protein βγ subunits: Central mediators of G protein-coupled receptor signaling

A. V. Smrcka

Cell Mol Life Sci. 2008 Jul; 65(14): 2191–2214. Published online 2008 May 19. doi: 10.1007/s00018-008-8006-5

PMCID:: PMC2688713

Abstract Article PDF–1.3M

Select item 26679859.

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M. Pettett, Nigel P. Carter

Am J Hum Genet. 2009 Apr 10; 84(4): 524–533. doi: 10.1016/j.ajhg.2009.03.010

PMCID:: PMC2667985

Abstract Article PDF–1.3M

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