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Results: 1 to 20 of 109

Similar articles for PubMed (Select 20096356)

1.

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

Yum SW, Zhang J, Scherer SS.

Neurobiol Dis. 2010 May;38(2):226-36. doi: 10.1016/j.nbd.2010.01.010. Epub 2010 Jan 21.

2.

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

Zhang J, Scherer SS, Yum SW.

Mol Cell Neurosci. 2011 Jun;47(2):71-8. doi: 10.1016/j.mcn.2010.10.002. Epub 2010 Oct 30.

3.

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

Marziano NK, Casalotti SO, Portelli AE, Becker DL, Forge A.

Hum Mol Genet. 2003 Apr 15;12(8):805-12.

4.

Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.

Yum SW, Zhang J, Valiunas V, Kanaporis G, Brink PR, White TW, Scherer SS.

Am J Physiol Cell Physiol. 2007 Sep;293(3):C1032-48. Epub 2007 Jul 5.

5.

The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30.

Forge A, Marziano NK, Casalotti SO, Becker DL, Jagger D.

Cell Commun Adhes. 2003 Jul-Dec;10(4-6):341-6.

PMID:
14681039
6.

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.

Rouan F, White TW, Brown N, Taylor AM, Lucke TW, Paul DL, Munro CS, Uitto J, Hodgins MB, Richard G.

J Cell Sci. 2001 Jun;114(Pt 11):2105-13.

7.

Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions.

Qu Y, Tang W, Zhou B, Ahmad S, Chang Q, Li X, Lin X.

Biochem Biophys Res Commun. 2012 Jan 6;417(1):245-50. doi: 10.1016/j.bbrc.2011.11.093. Epub 2011 Nov 28.

8.

Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels.

Manthey D, Banach K, Desplantez T, Lee CG, Kozak CA, Traub O, Weingart R, Willecke K.

J Membr Biol. 2001 May 15;181(2):137-48.

PMID:
11420600
9.

The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.

Sch├╝tz M, Scimemi P, Majumder P, De Siati RD, Crispino G, Rodriguez L, Bortolozzi M, Santarelli R, Seydel A, Sonntag S, Ingham N, Steel KP, Willecke K, Mammano F.

Hum Mol Genet. 2010 Dec 15;19(24):4759-73. doi: 10.1093/hmg/ddq402. Epub 2010 Sep 21.

10.

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Uyguner O, Emiroglu M, Uzumcu A, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B.

Clin Genet. 2003 Jul;64(1):65-9.

PMID:
12791041
11.

Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.

Ambrosi C, Walker AE, Depriest AD, Cone AC, Lu C, Badger J, Skerrett IM, Sosinsky GE.

PLoS One. 2013 Aug 15;8(8):e70916. doi: 10.1371/journal.pone.0070916. eCollection 2013.

12.

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R, Gasparini P, Estivill X.

Hum Mutat. 2000 Sep;16(3):190-202. Review.

PMID:
10980526
13.

Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.

Choi SY, Park HJ, Lee KY, Dinh EH, Chang Q, Ahmad S, Lee SH, Bok J, Lin X, Kim UK.

Hum Mutat. 2009 Jul;30(7):E716-27. doi: 10.1002/humu.21036.

PMID:
19384972
14.

Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations.

Thomas T, Telford D, Laird DW.

J Biol Chem. 2004 Apr 30;279(18):19157-68. Epub 2004 Feb 19.

15.

A novel missense mutation in the connexin30 causes nonsyndromic hearing loss.

Wang WH, Liu YF, Su CC, Su MC, Li SY, Yang JJ.

PLoS One. 2011;6(6):e21473. doi: 10.1371/journal.pone.0021473. Epub 2011 Jun 24.

16.

Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.

Su CC, Li SY, Su MC, Chen WC, Yang JJ.

Eur J Hum Genet. 2010 Sep;18(9):1061-4. doi: 10.1038/ejhg.2010.50. Epub 2010 May 5.

17.

Human connexin30.2/31.3 (GJC3) does not form functional gap junction channels but causes enhanced ATP release in HeLa cells.

Liang WG, Su CC, Nian JH, Chiang AS, Li SY, Yang JJ.

Cell Biochem Biophys. 2011 Sep;61(1):189-97. doi: 10.1007/s12013-011-9188-2.

PMID:
21480002
18.

Transport and function of cx26 mutants involved in skin and deafness disorders.

Thomas T, Aasen T, Hodgins M, Laird DW.

Cell Commun Adhes. 2003 Jul-Dec;10(4-6):353-8.

PMID:
14681041
19.

Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.

Berger AC, Kelly JJ, Lajoie P, Shao Q, Laird DW.

J Cell Sci. 2014 Apr 15;127(Pt 8):1751-64. doi: 10.1242/jcs.138230. Epub 2014 Feb 12.

20.

Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice.

Chang Q, Tang W, Ahmad S, Zhou B, Lin X.

PLoS One. 2008;3(12):e4088. doi: 10.1371/journal.pone.0004088. Epub 2008 Dec 31.

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