Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    Results: 1 to 20 of 75

    1.

    TRPV4 partially participates in proliferation of human brain capillary endothelial cells.

    Hatano N, Suzuki H, Itoh Y, Muraki K.

    Life Sci. 2013 Mar 12;92(4-5):317-24. doi: 10.1016/j.lfs.2013.01.002. Epub 2013 Jan 16.

    PMID:
    23333822
    [PubMed - indexed for MEDLINE]
    2.

    Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

    Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG.

    Am J Hum Genet. 2012 Dec 7;91(6):1122-7. doi: 10.1016/j.ajhg.2012.10.013. Epub 2012 Nov 15.

    PMID:
    23159249
    [PubMed - indexed for MEDLINE]
    3.

    Quantitative GPCR and ion channel transcriptomics in primary alveolar macrophages and macrophage surrogates.

    Groot-Kormelink PJ, Fawcett L, Wright PD, Gosling M, Kent TC.

    BMC Immunol. 2012 Oct 26;13:57. doi: 10.1186/1471-2172-13-57.

    PMID:
    23102269
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Functional expression of TRPV4 channels in human collecting duct cells: implications for secondary hypertension in diabetic nephropathy.

    Hills CE, Bland R, Squires PE.

    Exp Diabetes Res. 2012;2012:936518. doi: 10.1155/2012/936518. Epub 2012 Sep 20.

    PMID:
    23049542
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

    Fawcett KA, Murphy SM, Polke JM, Wray S, Burchell VS, Manji H, Quinlivan RM, Zdebik AA, Reilly MM, Houlden H.

    J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1204-9. doi: 10.1136/jnnp-2012-303055. Epub 2012 Jul 31.

    PMID:
    22851605
    [PubMed - indexed for MEDLINE]
    6.

    PAPSS2 mutations cause autosomal recessive brachyolmia.

    Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S.

    J Med Genet. 2012 Aug;49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11.

    PMID:
    22791835
    [PubMed - indexed for MEDLINE]
    7.

    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]
    8.

    Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.

    Inada H, Procko E, Sotomayor M, Gaudet R.

    Biochemistry. 2012 Aug 7;51(31):6195-206. Epub 2012 Jul 25.

    PMID:
    22702953
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy.

    Vlam L, Schelhaas HJ, van Blitterswijk M, van Vught PW, de Visser M, van der Kooi AJ, van der Pol WL, van den Berg LH.

    Arch Neurol. 2012 Jun;69(6):790-1. doi: 10.1001/archneurol.2012.148. No abstract available.

    PMID:
    22689196
    [PubMed - indexed for MEDLINE]
    10.

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

    Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ.

    Neurology. 2012 Jul 10;79(2):192-4. doi: 10.1212/WNL.0b013e31825f04b2. Epub 2012 Jun 6. No abstract available.

    PMID:
    22675077
    [PubMed - indexed for MEDLINE]
    11.

    Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

    Oates EC, Reddel S, Rodriguez ML, Gandolfo LC, Bahlo M, Hawke SH, Lamandé SR, Clarke NF, North KN.

    Brain. 2012 Jun;135(Pt 6):1714-23. doi: 10.1093/brain/aws108.

    PMID:
    22628388
    [PubMed - indexed for MEDLINE]
    12.

    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]
    13.

    TRPV4 mutations in children with congenital distal spinal muscular atrophy.

    Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C.

    Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25.

    PMID:
    22526352
    [PubMed - indexed for MEDLINE]
    14.

    Transient receptor potential genes, smoking, occupational exposures and cough in adults.

    Smit LA, Kogevinas M, Antó JM, Bouzigon E, González JR, Le Moual N, Kromhout H, Carsin AE, Pin I, Jarvis D, Vermeulen R, Janson C, Heinrich J, Gut I, Lathrop M, Valverde MA, Demenais F, Kauffmann F.

    Respir Res. 2012 Mar 23;13:26. doi: 10.1186/1465-9921-13-26.

    PMID:
    22443337
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    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]
    16.

    Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.

    Lanciotti A, Brignone MS, Molinari P, Visentin S, De Nuccio C, Macchia G, Aiello C, Bertini E, Aloisi F, Petrucci TC, Ambrosini E.

    Hum Mol Genet. 2012 May 15;21(10):2166-80. doi: 10.1093/hmg/dds032. Epub 2012 Feb 9.

    PMID:
    22328087
    [PubMed - indexed for MEDLINE]
    Free Article
    17.

    Interaction of transient receptor potential vanilloid 4 with annexin A2 and tubulin beta 5.

    Huai J, Zhang Y, Liu QM, Ge HY, Arendt-Nielsen L, Jiang H, Yue SW.

    Neurosci Lett. 2012 Mar 14;512(1):22-7. doi: 10.1016/j.neulet.2012.01.048. Epub 2012 Jan 28.

    PMID:
    22309793
    [PubMed - indexed for MEDLINE]
    18.

    Muscle MRI in TRPV4-related congenital distal SMA.

    Astrea G, Brisca G, Fiorillo C, Valle M, Tosetti M, Bruno C, Santorelli FM, Battini R.

    Neurology. 2012 Jan 31;78(5):364-5. doi: 10.1212/WNL.0b013e318245295a. No abstract available.

    PMID:
    22291064
    [PubMed - indexed for MEDLINE]
    19.

    The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

    Lin KP, Soong BW, Yang CC, Huang LW, Chang MH, Lee IH, Antonellis A, Lee YC.

    PLoS One. 2011;6(12):e29393. doi: 10.1371/journal.pone.0029393. Epub 2011 Dec 19. Erratum in: PLoS One. 2012;7(1). doi:10.1371/annotation/237439db-35ae-4884-9ee7-2ae19872a581. Antonellis, Antony [corrected to Antonellis, Anthony].

    PMID:
    22206013
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth.

    Jang Y, Jung J, Kim H, Oh J, Jeon JH, Jung S, Kim KT, Cho H, Yang DJ, Kim SM, Kim IB, Song MR, Oh U.

    J Biol Chem. 2012 Feb 17;287(8):6014-24. doi: 10.1074/jbc.M111.316315. Epub 2011 Dec 20.

    PMID:
    22187434
    [PubMed - indexed for MEDLINE]
    Free PMC Article

      Display Settings:

      Format
      Items per page
      Sort by

      Send to:

      Choose Destination

      Supplemental Content

      Find related data

      Search details

      See more...

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk