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Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 74972892.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 72695823.

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

Jeremy M. Sullivan, William W. Motley, Janel O. Johnson, William H. Aisenberg, Katherine L. Marshall, Katy E.S. Barwick, Lingling Kong, Jennifer S. Huh, Pamela C. Saavedra-Rivera, Meriel M. McEntagart, Marie-Helene Marion, Lucy A. Hicklin, Hamid Modarres, Emma L. Baple, Mohamed H. Farah, Aamir R. Zuberi, Cathleen M. Lutz, Rachelle Gaudet, Bryan J. Traynor, Andrew H. Crosby, Charlotte J. Sumner

J Clin Invest. 2020 Mar 2; 130(3): 1506–1512. Published online 2020 Feb 17. doi: 10.1172/JCI128152

PMCID:: PMC7269582

Abstract Article PDF–5.5M

Select item 72602014.

TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca²⁺

Brian M. Woolums, Brett A. McCray, Hyun Sung, Masashi Tabuchi, Jeremy M. Sullivan, Kendra Takle Ruppell, Yunpeng Yang, Catherine Mamah, William H. Aisenberg, Pamela C. Saavedra-Rivera, Bryan S. Larin, Alexander R. Lau, Douglas N. Robinson, Yang Xiang, Mark N. Wu, Charlotte J. Sumner, Thomas E. Lloyd

Nat Commun. 2020; 11: 2679. Published online 2020 May 29. doi: 10.1038/s41467-020-16411-5

PMCID:: PMC7260201

Abstract Article PDF–6.6M

Select item 65938345.

TRPV4 is involved in levonorgestrel‐induced reduction in oviduct ciliary beating

Cheng Li, Yan‐Ting Wu, Qian Zhu, Hui‐Yu Zhang, Zhen Huang, Duo Zhang, Hang Qi, Gui‐Ling Liang, Xiao‐Qing He, Xiao‐Feng Wang, Xue Tang, He‐Feng Huang, Jian Zhang

J Pathol. 2019 May; 248(1): 77–87. Published online 2019 Mar 5. doi: 10.1002/path.5233

PMCID:: PMC6593834

Abstract Article PDF–2.8M

Select item 65280836.

Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Eden Faye, Peggy Modaff, Richard Pauli, Janet Legare

Mol Syndromol. 2019 May; 10(3): 154–160. Published online 2018 Dec 21. doi: 10.1159/000495778

PMCID:: PMC6528083

Abstract Article PDF–821K

Select item 64543057.

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

Neurol Genet. 2019 Apr; 5(2): e312. Published online 2019 Mar 7. doi: 10.1212/NXG.0000000000000312

PMCID:: PMC6454305

Abstract Article PDF–634K

Select item 48113818.

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

Jeremy M. Sullivan, Christina M. Zimanyi, William Aisenberg, Breanne Bears, Dong-Hui Chen, John W. Day, Thomas D. Bird, Carly E. Siskind, Rachelle Gaudet, Charlotte J. Sumner

Neurol Genet. 2015 Dec; 1(4): e29. Published online 2015 Oct 22. doi: 10.1212/NXG.0000000000000029

PMCID:: PMC4811381

Abstract Article PDF–959K

Select item 47552369.

Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias

Holly A Leddy, Amy L McNulty, Farshid Guilak, Wolfgang Liedtke

Rare Dis. 2014; 2(1): e962971. Published online 2014 Oct 30. doi: 10.4161/2167549X.2014.962971

PMCID:: PMC4755236

Abstract Article PDF–202K

Select item 473192510.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 454475311.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 407083712.

Transient receptor potential channels and regulation of lung endothelial permeability

Patricia C. Villalta, Mary I. Townsley

Pulm Circ. 2013 Dec; 3(4): 802–815. doi: 10.1086/674765

PMCID:: PMC4070837

Abstract Article PDF–5.1M

Select item 402144613.

Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations

Holly A. Leddy, Amy L. McNulty, Suk Hee Lee, Nicole E. Rothfusz, Bernd Gloss, Margaret L. Kirby, Mary R. Hutson, Daniel H. Cohn, Farshid Guilak, Wolfgang Liedtke

FASEB J. 2014 Jun; 28(6): 2525–2537. doi: 10.1096/fj.13-245936

PMCID:: PMC4021446

Abstract Article

Select item 384020014.

TRP channel Ca²⁺ sparklets: fundamental signals underlying endothelium-dependent hyperpolarization

Michelle N. Sullivan, Scott Earley

Am J Physiol Cell Physiol. 2013 Nov 15; 305(10): C999–C1008. Published online 2013 Sep 11. doi: 10.1152/ajpcell.00273.2013

PMCID:: PMC3840200

Abstract Article

Select item 378619215.

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

Han-Xiang Deng, Christopher J Klein, Jianhua Yan, Yong Shi, Yanhong Wu, Faisal Fecto, Hau-Jie Yau, Yi Yang, Hong Zhai, Nailah Siddique, E Tessa Hedley-Whyte, Robert DeLong, Marco Martina, Peter J Dyck, Teepu Siddique

Nat Genet. Author manuscript; available in PMC 2013 Sep 29.

Published in final edited form as: Nat Genet. 2010 Feb; 42(2): 165–169. Published online 2009 Dec 27. doi: 10.1038/ng.509

PMCID:: PMC3786192

Abstract Article PDF–2.3M

Select item 356684316.

The puzzle of TRPV4 channelopathies

Bernd Nilius, Thomas Voets

EMBO Rep. 2013 Feb; 14(2): 152–163. Published online 2013 Jan 11. doi: 10.1038/embor.2012.219

Correction in:: EMBO Rep. 2013 Sep; 14(9): 845.

PMCID:: PMC3566843

Abstract Article PDF–763K

Select item 356238317.

Novel insights into TRPV4 function in the kidney

Oleh Pochynyuk, Oleg Zaika, Roger G. O’Neil, Mykola Mamenko

Pflugers Arch. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Pflugers Arch. 2013 Feb; 465(2): 177–186. Published online 2012 Dec 4. doi: 10.1007/s00424-012-1190-z

PMCID:: PMC3562383

Abstract Article PDF–748K

Select item 352507718.

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Matthew J Rock, Jean Prenen, Vincent A Funari, Tara L Funari, Barry Merriman, Stanley F Nelson, Ralph S Lachman, William R Wilcox, Soraya Reyno, Roberto Quadrelli, Alicia Vaglio, Grzegorz Owsianik, Annelies Janssens, Thomas Voets, Shiro Ikegawa, Toshiro Nagai, David L Rimoin, Bernd Nilius, Daniel H Cohn

Nat Genet. Author manuscript; available in PMC 2012 Dec 18.

Published in final edited form as: Nat Genet. 2008 Aug; 40(8): 999–1003. Published online 2008 Jun 29. doi: 10.1038/ng.166

PMCID:: PMC3525077

Abstract Article PDF–1.2M

Select item 347752219.

TRPV4 is a regulator of adipose oxidative metabolism, inflammation and energy homeostasis

Li Ye, Sandra Kleiner, Jun Wu, Rajan Sah, Rana K. Gupta, Alexander S. Banks, Paul Cohen, Melin J. Khandekar, Pontus Boström, Rina Mepani, Dina Laznik, Theodore M. Kamenecka, Xinyi Song, Wolfgang Liedtke, Vamsi K. Mootha, Pere Puigserver, Patrick R. Griffin, David E. Clapham, Bruce M. Spiegelman

Cell. Author manuscript; available in PMC 2013 Sep 28.

Published in final edited form as: Cell. 2012 Sep 28; 151(1): 96–110. doi: 10.1016/j.cell.2012.08.034

PMCID:: PMC3477522

Abstract Article PDF–4.1M

Select item 339054220.

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Guida Landouré, Jeremy M. Sullivan, Janel O. Johnson, Clare H. Munns, Yijun Shi, Oumarou Diallo, J. Raphael Gibbs, Rachelle Gaudet, Christy L. Ludlow, Kenneth H. Fischbeck, Bryan J. Traynor, Barrington G. Burnett, Charlotte J. Sumner

Neurology. 2012 Jul 10; 79(2): 192–194. doi: 10.1212/WNL.0b013e31825f04b2

PMCID:: PMC3390542

Article PDF–855K

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