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 *

209 related articles for article (PubMed ID: 12352684)

  • 1. Functional study of GJB2 in hereditary hearing loss.
    Choung YH; Moon SK; Park HJ
    Laryngoscope; 2002 Sep; 112(9):1667-71. PubMed ID: 12352684
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Connexin26 mutations associated with nonsyndromic hearing loss.
    Park HJ; Hahn SH; Chun YM; Park K; Kim HN
    Laryngoscope; 2000 Sep; 110(9):1535-8. PubMed ID: 10983956
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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. PubMed ID: 19384972
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 12791041
    [TBL] [Abstract][Full Text] [Related]  

  • 6. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
    Xiao ZA; Xie DH
    Chin Med J (Engl); 2004 Dec; 117(12):1797-801. PubMed ID: 15603707
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 12562518
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population.
    Dai P; Yu F; Han B; Yuan Y; Li Q; Wang G; Liu X; He J; Huang D; Kang D; Zhang X; Yuan H; Schmitt E; Han D; Wong LJ
    Genet Med; 2007 May; 9(5):283-9. PubMed ID: 17505205
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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]  

  • 10. Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
    Xiao Z; Yang Z; Liu X; Xie D
    Acta Otolaryngol; 2011 Jan; 131(1):59-66. PubMed ID: 20863150
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 10980526
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Functional evaluation of GJB2 variants in nonsyndromic hearing loss.
    Choi SY; Lee KY; Kim HJ; Kim HK; Chang Q; Park HJ; Jeon CJ; Lin X; Bok J; Kim UK
    Mol Med; 2011; 17(5-6):550-6. PubMed ID: 21298213
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 12(8):805-12. PubMed ID: 12668604
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss.
    Press ER; Shao Q; Kelly JJ; Chin K; Alaga A; Laird DW
    J Biol Chem; 2017 Jun; 292(23):9721-9732. PubMed ID: 28428247
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.
    Najmabadi H; Cucci RA; Sahebjam S; Kouchakian N; Farhadi M; Kahrizi K; Arzhangi S; Daneshmandan N; Javan K; Smith RJ
    Hum Mutat; 2002 May; 19(5):572. PubMed ID: 11968091
    [TBL] [Abstract][Full Text] [Related]  

  • 16. GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China.
    Shi GZ; Gong LX; Xu XH; Nie WY; Lin Q; Qi YS
    Hear Res; 2004 Nov; 197(1-2):19-23. PubMed ID: 15504600
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.
    Chen T; Jiang L; Liu C; Shan H; Chen J; Yang B; Ou Q
    Ann Hum Genet; 2014 May; 78(3):235-42. PubMed ID: 24645897
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population.
    Liu Y; Ke X; Qi Y; Li W; Zhu P
    J Hum Genet; 2002; 47(12):688-90. PubMed ID: 12522692
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.
    Abidi O; Boulouiz R; Nahili H; Bakhouch K; Wakrim L; Rouba H; Chafik A; Hassar M; Barakat A
    Genet Test; 2008 Dec; 12(4):569-74. PubMed ID: 19072567
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel connexin 26 compound heterozygous mutation results in deafness.
    Harris KC; Erbe CB; Firszt JB; Flanary VA; Wackym PA
    Laryngoscope; 2002 Jul; 112(7 Pt 1):1159-62. PubMed ID: 12169891
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.