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Results: 12

1.

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

Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C.

Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.

PMID:
20037588
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

TRPV4-pathy, a novel channelopathy affecting diverse systems.

Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S.

J Hum Genet. 2010 Jul;55(7):400-2. doi: 10.1038/jhg.2010.37. Epub 2010 May 27. Review.

PMID:
20505684
[PubMed - indexed for MEDLINE]
3.

The puzzle of TRPV4 channelopathies.

Nilius B, Voets T.

EMBO Rep. 2013 Feb;14(2):152-63. doi: 10.1038/embor.2012.219. Epub 2013 Jan 11. Review. Erratum in: EMBO Rep. 2013 Sep;14(9):845.

PMID:
23306656
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

TRPV4-associated skeletal dysplasias.

Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Review.

PMID:
22791502
[PubMed - indexed for MEDLINE]
5.

Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.

Drew AP, Blair IP, Nicholson GA.

Curr Mol Med. 2011 Nov;11(8):650-65. Review.

PMID:
21902652
[PubMed - indexed for MEDLINE]
6.

TRPV4-mediated channelopathies.

Verma P, Kumar A, Goswami C.

Channels (Austin). 2010 Jul-Aug;4(4):319-28. Epub 2010 Jul 6. Review.

PMID:
20676052
[PubMed - indexed for MEDLINE]
Free Article
7.

TRPV4 axonal neuropathy spectrum disorder.

McEntagart M.

J Clin Neurosci. 2012 Jul;19(7):927-33. doi: 10.1016/j.jocn.2011.12.003. Epub 2012 May 20. Review.

PMID:
22617546
[PubMed - indexed for MEDLINE]
8.

The negative feedback regulation of TRPV4 Ca2+ ion channel function by its C-terminal cytoplasmic domain.

Chun J, Shin SH, Kang SS.

Cell Signal. 2012 Oct;24(10):1918-22. doi: 10.1016/j.cellsig.2012.06.008. Epub 2012 Jun 23. Review.

PMID:
22735813
[PubMed - indexed for MEDLINE]
9.

Genetics of motor neuron disease.

Van Den Bosch L, Timmerman V.

Curr Neurol Neurosci Rep. 2006 Sep;6(5):423-31. Review.

PMID:
16928353
[PubMed - indexed for MEDLINE]
10.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
[PubMed - indexed for MEDLINE]
11.

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

Guilak F, Leddy HA, Liedtke W.

Ann N Y Acad Sci. 2010 Mar;1192:404-9. doi: 10.1111/j.1749-6632.2010.05389.x. Review.

PMID:
20392266
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.

Kang SS, Shin SH, Auh CK, Chun J.

Exp Mol Med. 2012 Dec 31;44(12):707-22. doi: 10.3858/emm.2012.44.12.080. Review.

PMID:
23143559
[PubMed - indexed for MEDLINE]
Free PMC Article

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