PMC Links for GEO Profiles (Select 16187216) - PMC

Select item 87751611.

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D. Rendtorff, Miguel A. Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio del Castillo

Genes (Basel) 2022 Jan; 13(1): 149. Published online 2022 Jan 15. doi: 10.3390/genes13010149

PMCID:: PMC8775161

Abstract Article PDF–1.1M

Select item 53731282.

Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner

Marcin Kazmierczak, Piotr Kazmierczak, Anthony W. Peng, Suzan L. Harris, Prahar Shah, Jean-Luc Puel, Marc Lenoir, Santos J. Franco, Martin Schwander

J Neurosci. 2017 Mar 29; 37(13): 3447–3464. doi: 10.1523/JNEUROSCI.2711-16.2017

PMCID:: PMC5373128

Abstract Article PDF–10M

Select item 45045543.

Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing

Chen-Chi Wu, Yin-Hung Lin, Tien-Chen Liu, Kai-Nan Lin, Wei-Shiung Yang, Chuan-Jen Hsu, Pei-Lung Chen, Che-Ming Wu

Medicine (Baltimore) 2015 Jul; 94(27): e1073. Published online 2015 Jul 13. doi: 10.1097/MD.0000000000001073

PMCID:: PMC4504554

Abstract Article PDF–570K

Select item 35347764.

A p.C343S Missense Mutation in PJVK causes Progressive Hearing Loss

Ghulam Mujtaba, Ihtisham Bukhari, Amara Fatima, Sadaf Naz

Gene. Author manuscript; available in PMC 2013 Aug 1.

Published in final edited form as: Gene. 2012 Aug 1; 504(1): 98–101. Published online 2012 May 14. doi: 10.1016/j.gene.2012.05.013

PMCID:: PMC3534776

Abstract Article PDF–1.0M

Select item 31780595.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 31741366.

Variants of OTOF and PJVK Genes in Chinese Patients with Auditory Neuropathy Spectrum Disorder

Wang Jian, Fan Ying-ying, Wang Shu-juan, Liang Peng-Fei, Wang Jin-ling, Qiu Jian-hua

PLoS One. 2011; 6(9): e24000. Published online 2011 Sep 15. doi: 10.1371/journal.pone.0024000

PMCID:: PMC3174136

Abstract Article PDF–651K

Select item 29451687.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 27758328.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

Select item 5289289.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 13924110.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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