These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

244 related articles for article (PubMed ID: 16849369)

  • 1. Pathogenetic role of the deafness-related M34T mutation of Cx26.
    Bicego M; Beltramello M; Melchionda S; Carella M; Piazza V; Zelante L; Bukauskas FF; Arslan E; Cama E; Pantano S; Bruzzone R; D'Andrea P; Mammano F
    Hum Mol Genet; 2006 Sep; 15(17):2569-87. PubMed ID: 16849369
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.
    Skerrett IM; Di WL; Kasperek EM; Kelsell DP; Nicholson BJ
    FASEB J; 2004 May; 18(7):860-2. PubMed ID: 15033936
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
    Bruzzone R; Veronesi V; Gomès D; Bicego M; Duval N; Marlin S; Petit C; D'Andrea P; White TW
    FEBS Lett; 2003 Jan; 533(1-3):79-88. PubMed ID: 12505163
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness.
    Bruzzone R; Gomès D; Denoyelle E; Duval N; Perea J; Veronesi V; Weil D; Petit C; Gabellec MM; D'Andrea P; White TW
    Cell Commun Adhes; 2001; 8(4-6):425-31. PubMed ID: 12064630
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hearing loss: frequency and functional studies of the most common connexin26 alleles.
    D'Andrea P; Veronesi V; Bicego M; Melchionda S; Zelante L; Di Iorio E; Bruzzone R; Gasparini P
    Biochem Biophys Res Commun; 2002 Aug; 296(3):685-91. PubMed ID: 12176036
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
    Thönnissen E; Rabionet R; Arbonès ML; Estivill X; Willecke K; Ott T
    Hum Genet; 2002 Aug; 111(2):190-7. PubMed ID: 12189493
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 11493646
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.
    Martin PE; Coleman SL; Casalotti SO; Forge A; Evans WH
    Hum Mol Genet; 1999 Dec; 8(13):2369-76. PubMed ID: 10556284
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 181(2):137-48. PubMed ID: 11420600
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.
    Gerido DA; DeRosa AM; Richard G; White TW
    Am J Physiol Cell Physiol; 2007 Jul; 293(1):C337-45. PubMed ID: 17428836
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
    Griffith AJ; Chowdhry AA; Kurima K; Hood LJ; Keats B; Berlin CI; Morell RJ; Friedman TB
    Am J Hum Genet; 2000 Sep; 67(3):745-9. PubMed ID: 10903123
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 8(8):e70916. PubMed ID: 23967136
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The M34T allele variant of connexin 26.
    Cucci RA; Prasad S; Kelley PM; Green GE; Storm K; Willocx S; Cohn ES; Van Camp G; Smith RJ
    Genet Test; 2000; 4(4):335-44. PubMed ID: 11216656
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Aberrant expression pattern of a novel mutation in connexin 26 gene resulting in autosomal recessive deafness].
    Yang ZC; Xiao ZA; Xie DH; Xia K
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Jun; 27(3):241-5. PubMed ID: 20533257
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 279(18):19157-68. PubMed ID: 14978038
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
    Houseman MJ; Ellis LA; Pagnamenta A; Di WL; Rickard S; Osborn AH; Dahl HH; Taylor GR; Bitner-Glindzicz M; Reardon W; Mueller RF; Kelsell DP
    J Med Genet; 2001 Jan; 38(1):20-5. PubMed ID: 11134236
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions.
    Sanchez HA; Villone K; Srinivas M; Verselis VK
    J Gen Physiol; 2013 Jul; 142(1):3-22. PubMed ID: 23797419
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
    de Zwart-Storm EA; van Geel M; van Neer PA; Steijlen PM; Martin PE; van Steensel MA
    Am J Pathol; 2008 Oct; 173(4):1113-9. PubMed ID: 18787097
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
    Feldmann D; Denoyelle F; Loundon N; Weil D; Garabedian EN; Couderc R; Joannard A; Schmerber S; Delobel B; Leman J; Journel H; Catros H; Ferrec C; Drouin-Garraud V; Obstoy MF; Moati L; Petit C; Marlin S
    Eur J Hum Genet; 2004 Apr; 12(4):279-84. PubMed ID: 14694360
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro.
    de Wolf E; van de Wiel J; Cook J; Dale N
    Physiol Rep; 2016 Nov; 4(22):. PubMed ID: 27884957
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.