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Results: 1 to 20 of 83

1.

Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force.

Loukin S, Zhou X, Su Z, Saimi Y, Kung C.

J Biol Chem. 2010 Aug 27;285(35):27176-81. doi: 10.1074/jbc.M110.143370. Epub 2010 Jul 6.

PMID:
20605796
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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

Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH.

Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29.

PMID:
18587396
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations.

Loukin S, Su Z, Kung C.

PLoS One. 2011 May 5;6(5):e19533. doi: 10.1371/journal.pone.0019533.

PMID:
21573172
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Forward genetic analysis reveals multiple gating mechanisms of TRPV4.

Loukin S, Su Z, Zhou X, Kung C.

J Biol Chem. 2010 Jun 25;285(26):19884-90. doi: 10.1074/jbc.M110.113936. Epub 2010 Apr 27.

PMID:
20424166
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.

Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S.

Am J Med Genet A. 2012 Apr;158A(4):795-802. doi: 10.1002/ajmg.a.35268. Epub 2012 Mar 14.

PMID:
22419508
[PubMed - indexed for MEDLINE]
6.

Yeast luminometric and Xenopus oocyte electrophysiological examinations of the molecular mechanosensitivity of TRPV4.

Teng J, Loukin S, Zhou X, Kung C.

J Vis Exp. 2013 Dec 31;(82). doi: 10.3791/50816.

PMID:
24637628
[PubMed - indexed for MEDLINE]
7.

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R.

Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37.

PMID:
21658220
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The vanilloid transient receptor potential channel TRPV4: from structure to disease.

Everaerts W, Nilius B, Owsianik G.

Prog Biophys Mol Biol. 2010 Sep;103(1):2-17. doi: 10.1016/j.pbiomolbio.2009.10.002. Epub 2009 Oct 14. Review.

PMID:
19835908
[PubMed - indexed for MEDLINE]
9.

Voltage-induced slow activation and deactivation of mechanosensitive channels in Xenopus oocytes.

Silberberg SD, Magleby KL.

J Physiol. 1997 Dec 15;505 ( Pt 3):551-69.

PMID:
9457635
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
11.

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.

J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24.

PMID:
20577006
[PubMed - indexed for MEDLINE]
12.

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH.

Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19.

PMID:
19232556
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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]
14.

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
15.

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]
16.

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
17.

Mechanosensitive ion channels in skeletal muscle: a link in the membrane pathology of muscular dystrophy.

Lansman JB, Franco-Obregón A.

Clin Exp Pharmacol Physiol. 2006 Jul;33(7):649-56.

PMID:
16789935
[PubMed - indexed for MEDLINE]
18.

Hypotonic shocks activate rat TRPV4 in yeast in the absence of polyunsaturated fatty acids.

Loukin SH, Su Z, Kung C.

FEBS Lett. 2009 Feb 18;583(4):754-8. doi: 10.1016/j.febslet.2009.01.027. Epub 2009 Jan 25.

PMID:
19174160
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Characterization of stretch-activated ion channels in Xenopus oocytes.

Yang XC, Sachs F.

J Physiol. 1990 Dec;431:103-22.

PMID:
1712839
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Glycosylation of the osmoresponsive transient receptor potential channel TRPV4 on Asn-651 influences membrane trafficking.

Xu H, Fu Y, Tian W, Cohen DM.

Am J Physiol Renal Physiol. 2006 May;290(5):F1103-9. Epub 2005 Dec 20.

PMID:
16368742
[PubMed - indexed for MEDLINE]
Free Article
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