Literature DB >> 22675077

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.

Guida Landouré1, 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.   

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Year:  2012        PMID： 22675077      PMCID： PMC3390542          DOI： 10.1212/WNL.0b013e31825f04b2

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  Differential regulation of TRPV1, TRPV3, and TRPV4 sensitivity through a conserved binding site on the ankyrin repeat domain.

Authors:  Christopher B Phelps; Ruiqi R Wang; Shelly S Choo; Rachelle Gaudet
Journal:  J Biol Chem       Date:  2009-10-28       Impact factor: 5.157

Review 2.  Transient receptor potential vanilloid 4: The sixth sense of the musculoskeletal system?

Authors:  Farshid Guilak; Holly A Leddy; Wolfgang Liedtke
Journal:  Ann N Y Acad Sci       Date:  2010-03       Impact factor: 5.691

3.  CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

Authors:  D-H Chen; Y Sul; M Weiss; A Hillel; H Lipe; J Wolff; M Matsushita; W Raskind; T Bird
Journal:  Neurology       Date:  2010-11-30       Impact factor: 9.910

4.  Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

Authors:  Magdalena Zimoń; Jonathan Baets; Michaela Auer-Grumbach; José Berciano; Antonio Garcia; Eduardo Lopez-Laso; Luciano Merlini; David Hilton-Jones; Meriel McEntagart; Andrew H Crosby; Nina Barisic; Eugen Boltshauser; Christopher E Shaw; Guida Landouré; Christy L Ludlow; Rachelle Gaudet; Henry Houlden; Mary M Reilly; Kenneth H Fischbeck; Charlotte J Sumner; Vincent Timmerman; Albena Jordanova; Peter De Jonghe
Journal:  Brain       Date:  2010-05-11       Impact factor: 13.501

5.  Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Authors:  Michaela Auer-Grumbach; Andrea Olschewski; Lea Papić; Hannie Kremer; Meriel E McEntagart; Sabine Uhrig; Carina Fischer; Eleonore Fröhlich; Zoltán Bálint; Bi Tang; Heimo Strohmaier; Hanns Lochmüller; Beate Schlotter-Weigel; Jan Senderek; Angelika Krebs; Katherine J Dick; Richard Petty; Cheryl Longman; Neil E Anderson; George W Padberg; Helenius J Schelhaas; Conny M A van Ravenswaaij-Arts; Thomas R Pieber; Andrew H Crosby; Christian Guelly
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330

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

Authors:  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
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330

7.  Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Authors:  Guida Landouré; Anselm A Zdebik; Tara L Martinez; Barrington G Burnett; Horia C Stanescu; Hitoshi Inada; Yijun Shi; Addis A Taye; Lingling Kong; Clare H Munns; Shelly S Choo; Christopher B Phelps; Reema Paudel; Henry Houlden; Christy L Ludlow; Michael J Caterina; Rachelle Gaudet; Robert Kleta; Kenneth H Fischbeck; Charlotte J Sumner
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330
  7 in total
  11 in total

Review 1.  Gene regulation and genetics in neurochemistry, past to future.

Authors:  Steven W Barger
Journal:  J Neurochem       Date:  2016-10-17       Impact factor: 5.372

2.  Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

Authors:  H Azzedine; J Senderek; C Rivolta; R Chrast
Journal:  Mol Syndromol       Date:  2012-10-12

Review 3.  Structural biology of TRP channels.

Authors:  Ute A Hellmich; Rachelle Gaudet
Journal:  Handb Exp Pharmacol       Date:  2014

Review 4.  The puzzle of TRPV4 channelopathies.

Authors:  Bernd Nilius; Thomas Voets
Journal:  EMBO Rep       Date:  2013-01-11       Impact factor: 8.807

5.  Sensory Innervation of the Larynx and the Search for Mucosal Mechanoreceptors.

Authors:  Alexander G Foote; Susan L Thibeault
Journal:  J Speech Lang Hear Res       Date:  2021-01-19       Impact factor: 2.297

6.  Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Authors:  Justine Lerat; Corinne Magdelaine; Anne-Françoise Roux; Léa Darnaud; Hélène Beauvais-Dzugan; Steven Naud; Laurence Richard; Paco Derouault; Karima Ghorab; Laurent Magy; Jean-Michel Vallat; Pascal Cintas; Eric Bieth; Marie-Christine Arne-Bes; Cyril Goizet; Caroline Espil-Taris; Hubert Journel; Annick Toutain; Jon Andoni Urtizberea; Odile Boespflug-Tanguy; Fanny Laffargue; Philippe Corcia; Laurent Pasquier; Mélanie Fradin; Sylva Napuri; Jonathan Ciron; Jean-Marc Boulesteix; Franck Sturtz; Anne-Sophie Lia
Journal:  Mol Genet Genomic Med       Date:  2019-08-08       Impact factor: 2.183

Review 7.  Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Authors:  Alexander M Rossor; James M Polke; Henry Houlden; Mary M Reilly
Journal:  Nat Rev Neurol       Date:  2013-09-10       Impact factor: 42.937

Review 8.  The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management.

Authors:  J Chad Hoyle; Michael C Isfort; Jennifer Roggenbuck; W David Arnold
Journal:  Appl Clin Genet       Date:  2015-10-19

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

Authors:  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
Journal:  Neurol Genet       Date:  2015-10-22

10.  Whole-exome sequencing improves genetic testing accuracy in pulmonary artery hypertension.

Authors:  Xiaofang Zeng; Tianyu Lian; Jianhui Lin; Suqi Li; Haikuo Zheng; Chunyan Cheng; Jue Ye; Zhicheng Jing; Xiaojian Wang; Wei Huang
Journal:  Pulm Circ       Date:  2018-02-26       Impact factor: 3.017
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