PMC Links for Nucleotide (Select 1519244584) - 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

Select item 69529784.

The Emerging Role of Gβ Subunits in Human Genetic Diseases

Natascia Malerba, Pasquelena De Nittis, Giuseppe Merla

Cells. 2019 Dec; 8(12): 1567. Published online 2019 Dec 4. doi: 10.3390/cells8121567

PMCID:: PMC6952978

Abstract Article PDF–1.7M

Select item 59283475.

Increased store-operated Ca²⁺ entry mediated by GNB5 and STIM1

Namju Kang, Jung Yun Kang, Soonhong Park, Dong Min Shin

Korean J Physiol Pharmacol. 2018 May; 22(3): 343–348. Published online 2018 Apr 25. doi: 10.4196/kjpp.2018.22.3.343

PMCID:: PMC5928347

Abstract Article PDF–1.2M

Select item 34956736.

Genome-wide analysis of pain-, nerve- and neurotrophin -related gene expression in the degenerating human annulus

Helen E Gruber, Gretchen L Hoelscher, Jane A Ingram, Edward N Hanley, Jr

Mol Pain. 2012; 8: 63. Published online 2012 Sep 10. doi: 10.1186/1744-8069-8-63

PMCID:: PMC3495673

Abstract Article PDF–654K

Select item 25655887.

A Tissue Biomarker Panel Predicting Systemic Progression after PSA Recurrence Post-Definitive Prostate Cancer Therapy

Tohru Nakagawa, Thomas M. Kollmeyer, Bruce W. Morlan, S. Keith Anderson, Eric J. Bergstralh, Brian J. Davis, Yan W. Asmann, George G. Klee, Karla V. Ballman, Robert B. Jenkins

PLoS One. 2008; 3(5): e2318. Published online 2008 May 28. doi: 10.1371/journal.pone.0002318

PMCID:: PMC2565588

Abstract Article PDF–429K

Select item 25294718.

Identification of candidate genes for human retinal degeneration loci using differentially expressed genes from mouse photoreceptor dystrophy models

Christina Demos, Mausumi Bandyopadhyay, Bärbel Rohrer

Mol Vis. 2008; 14: 1639–1649. Published online 2008 Sep 5.

PMCID:: PMC2529471

Abstract Article PDF–1.6M

Select item 21317469.

A systematic approach for testing expression of human full-length proteins in cell-free expression systems

Claudia Langlais, Birgit Guilleaume, Nadja Wermke, Tina Scheuermann, Lars Ebert, Joshua LaBaer, Bernhard Korn

BMC Biotechnol. 2007; 7: 64. Published online 2007 Oct 3. doi: 10.1186/1472-6750-7-64

PMCID:: PMC2131746

Abstract Article PDF–404K

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