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Results: 1 to 20 of 256

1.

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.

PMID:
12668604
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
11493646
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

PMID:
20096356
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
21040787
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
14978038
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals.

Forge A, Becker D, Casalotti S, Edwards J, Marziano N, Nevill G.

J Comp Neurol. 2003 Dec 8;467(2):207-31.

PMID:
14595769
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Dominant-negative abrogation of connexin-mediated cell growth control by mutant connexin genes.

Duflot-Dancer A, Mesnil M, Yamasaki H.

Oncogene. 1997 Oct;15(18):2151-8.

PMID:
9393973
[PubMed - indexed for MEDLINE]
Free Article
11.

Connexins in hearing loss: a comprehensive overview.

Sabag AD, Dagan O, Avraham KB.

J Basic Clin Physiol Pharmacol. 2005;16(2-3):101-16. Review.

PMID:
16285463
[PubMed - indexed for MEDLINE]
12.

Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.

Wang HL, Chang WT, Li AH, Yeh TH, Wu CY, Chen MS, Huang PC.

J Neurochem. 2003 Feb;84(4):735-42.

PMID:
12562518
[PubMed - indexed for MEDLINE]
13.

Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.

Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP.

J Invest Dermatol. 2004 May;122(5):1108-13.

PMID:
15140211
[PubMed - indexed for MEDLINE]
Free Article
14.

Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

Common JE, Becker D, Di WL, Leigh IM, O'Toole EA, Kelsell DP.

Biochem Biophys Res Commun. 2002 Nov 15;298(5):651-6.

PMID:
12419304
[PubMed - indexed for MEDLINE]
15.

Unique expression of connexins in the human cochlea.

Liu W, Boström M, Kinnefors A, Rask-Andersen H.

Hear Res. 2009 Apr;250(1-2):55-62. doi: 10.1016/j.heares.2009.01.010. Epub 2009 Feb 6.

PMID:
19450429
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Connexin mutations in hearing loss, dermatological and neurological disorders.

Rabionet R, López-Bigas N, Arbonès ML, Estivill X.

Trends Mol Med. 2002 May;8(5):205-12. Review.

PMID:
12067629
[PubMed - indexed for MEDLINE]
19.

Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

Meşe G, Londin E, Mui R, Brink PR, White TW.

Hum Genet. 2004 Aug;115(3):191-9. Epub 2004 Jul 7.

PMID:
15241677
[PubMed - indexed for MEDLINE]
20.

Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.

Erbe CB, Harris KC, Runge-Samuelson CL, Flanary VA, Wackym PA.

Laryngoscope. 2004 Apr;114(4):607-11.

PMID:
15064611
[PubMed - indexed for MEDLINE]

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