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    Results: 1 to 20 of 101

    1.

    Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.

    Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P.

    J Med Genet. 2006 Feb;43(2):157-61. Epub 2005 Jun 1.PMID: 15930085 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.

    Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB.

    J Med Genet. 2004 Aug;41(8):591-5.PMID: 15286153 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.

    Zheng L, Sekerková G, Vranich K, Tilney LG, Mugnaini E, Bartles JR.

    Cell. 2000 Aug 4;102(3):377-85.PMID: 10975527 [PubMed - indexed for MEDLINE]Related articles

    4.

    Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells.

    Loomis PA, Kelly AE, Zheng L, Changyaleket B, Sekerková G, Mugnaini E, Ferreira A, Mullins RD, Bartles JR.

    J Cell Sci. 2006 Apr 15;119(Pt 8):1655-65. Epub 2006 Mar 28.PMID: 16569662 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo.

    Loomis PA, Zheng L, Sekerková G, Changyaleket B, Mugnaini E, Bartles JR.

    J Cell Biol. 2003 Dec 8;163(5):1045-55. Epub 2003 Dec 1.PMID: 14657236 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

    Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH.

    Am J Hum Genet. 2003 Nov;73(5):1082-91. Epub 2003 Sep 16.PMID: 13680526 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Small espin: a third actin-bundling protein and potential forked protein ortholog in brush border microvilli.

    Bartles JR, Zheng L, Li A, Wierda A, Chen B.

    J Cell Biol. 1998 Oct 5;143(1):107-19.PMID: 9763424 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli.

    Sekerková G, Zheng L, Loomis PA, Mugnaini E, Bartles JR.

    Cell Mol Life Sci. 2006 Oct;63(19-20):2329-41. Review.PMID: 16909209 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4.

    Jackson T, Thomas J, Green ED, Noben-Trauth K.

    Biochem Biophys Res Commun. 2002 Sep 6;296(5):1143-7.PMID: 12207892 [PubMed - indexed for MEDLINE]Related articles

    10.

    A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

    Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A.

    Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. No abstract available. PMID: 18973245 [PubMed - indexed for MEDLINE]Related articles

    11.

    Balanced levels of Espin are critical for stereociliary growth and length maintenance.

    Rzadzinska A, Schneider M, Noben-Trauth K, Bartles JR, Kachar B.

    Cell Motil Cytoskeleton. 2005 Nov;62(3):157-65.PMID: 16206170 [PubMed - indexed for MEDLINE]Related articles

    12.

    Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

    Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G.

    Clin Genet. 2008 Sep;74(3):223-32. Epub 2008 Jul 9.PMID: 18616530 [PubMed - indexed for MEDLINE]Related articles

    13.

    Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.

    Usami S, Takahashi K, Yuge I, Ohtsuka A, Namba A, Abe S, Fransen E, Patthy L, Otting G, Van Camp G.

    Eur J Hum Genet. 2003 Oct;11(10):744-8.PMID: 14512963 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells.

    Sekerková G, Zheng L, Loomis PA, Changyaleket B, Whitlon DS, Mugnaini E, Bartles JR.

    J Neurosci. 2004 Jun 9;24(23):5445-56.PMID: 15190118 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

    Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S.

    J Med Genet. 2006 Aug;43(8):634-40. Epub 2006 Feb 3.PMID: 16459341 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Espin contains an additional actin-binding site in its N terminus and is a major actin-bundling protein of the Sertoli cell-spermatid ectoplasmic specialization junctional plaque.

    Chen B, Li A, Wang D, Wang M, Zheng L, Bartles JR.

    Mol Biol Cell. 1999 Dec;10(12):4327-39.PMID: 10588661 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

    de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H.

    Hum Genet. 2003 Feb;112(2):156-63. Epub 2002 Oct 29.PMID: 12522556 [PubMed - indexed for MEDLINE]Related articles

    18.

    Identification and characterization of espin, an actin-binding protein localized to the F-actin-rich junctional plaques of Sertoli cell ectoplasmic specializations.

    Bartles JR, Wierda A, Zheng L.

    J Cell Sci. 1996 Jun;109 ( Pt 6):1229-39.PMID: 8799813 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.

    Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U.

    Am J Hum Genet. 2009 Sep;85(3):328-37.PMID: 19732867 [PubMed - indexed for MEDLINE]Related articles

    20.

    Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

    Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G.

    Hum Mol Genet. 1999 Jul;8(7):1321-8.PMID: 10369879 [PubMed - indexed for MEDLINE]Related articlesFree article

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