BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

115 related articles for article (PubMed ID: 12702148)

  • 1. Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
    Rouan F; Lo CW; Fertala A; Wahl M; Jost M; Rodeck U; Uitto J; Richard G
    Exp Dermatol; 2003 Apr; 12(2):191-7. PubMed ID: 12702148
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV).
    Schnichels M; Wörsdörfer P; Dobrowolski R; Markopoulos C; Kretz M; Schwarz G; Winterhager E; Willecke K
    Hum Mol Genet; 2007 May; 16(10):1216-24. PubMed ID: 17446259
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.
    Plantard L; Huber M; Macari F; Meda P; Hohl D
    Hum Mol Genet; 2003 Dec; 12(24):3287-94. PubMed ID: 14583444
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
    Richard G; Smith LE; Bailey RA; Itin P; Hohl D; Epstein EH; DiGiovanna JJ; Compton JG; Bale SJ
    Nat Genet; 1998 Dec; 20(4):366-9. PubMed ID: 9843209
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.
    He LQ; Liu Y; Cai F; Tan ZP; Pan Q; Liang DS; Long ZG; Wu LQ; Huang LQ; Dai HP; Xia K; Xia JH; Zhang ZH
    Acta Biochim Biophys Sin (Shanghai); 2005 Aug; 37(8):547-54. PubMed ID: 16077902
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
    Richard G; Brown N; Rouan F; Van der Schroeff JG; Bijlsma E; Eichenfield LF; Sybert VP; Greer KE; Hogan P; Campanelli C; Compton JG; Bale SJ; DiGiovanna JJ; Uitto J
    J Invest Dermatol; 2003 Apr; 120(4):601-9. PubMed ID: 12648223
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
    Di WL; Monypenny J; Common JE; Kennedy CT; Holland KA; Leigh IM; Rugg EL; Zicha D; Kelsell DP
    Hum Mol Genet; 2002 Aug; 11(17):2005-14. PubMed ID: 12165562
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
    Morley SM; White MI; Rogers M; Wasserman D; Ratajczak P; McLean WH; Richard G
    Br J Dermatol; 2005 Jun; 152(6):1143-8. PubMed ID: 15948974
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
    Gottfried I; Landau M; Glaser F; Di WL; Ophir J; Mevorah B; Ben-Tal N; Kelsell DP; Avraham KB
    Hum Mol Genet; 2002 May; 11(11):1311-6. PubMed ID: 12019212
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
    Li TC; Kuan YH; Ko TY; Li C; Yang JJ
    Biochem Cell Biol; 2014 Aug; 92(4):251-7. PubMed ID: 24913888
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.
    Mhatre AN; Weld E; Lalwani AK
    Clin Genet; 2003 Feb; 63(2):154-9. PubMed ID: 12630965
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
    Oh SK; Choi SY; Yu SH; Lee KY; Hong JH; Hur SW; Kim SJ; Jeon CJ; Kim UK
    Biochim Biophys Acta; 2013 Jan; 1832(1):285-91. PubMed ID: 22617145
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
    Easton JA; Albuloushi AK; Kamps MAF; Brouns GHMR; Broers JLV; Coull BJ; Oji V; van Geel M; van Steensel MAM; Martin PE
    Exp Dermatol; 2019 Oct; 28(10):1106-1113. PubMed ID: 29570224
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.
    Frei K; Ramsebner R; Hamader G; Lucas T; Schoefer C; Baumgartner WD; Wachtler FJ; Kirschhofer K
    Hear Res; 2004 Aug; 194(1-2):81-6. PubMed ID: 15276679
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exchange of serine residues 263 and 266 reduces the function of mouse gap junction protein connexin31 and exhibits a dominant-negative effect on the wild-type protein in HeLa cells.
    Diestel S; Eckert R; Hülser D; Traub O
    Exp Cell Res; 2004 Apr; 294(2):446-57. PubMed ID: 15023533
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
    Richard G; Brown N; Smith LE; Terrinoni A; Melino G; Mackie RM; Bale SJ; Uitto J
    Hum Genet; 2000 Mar; 106(3):321-9. PubMed ID: 10798362
    [TBL] [Abstract][Full Text] [Related]  

  • 17. EKV mutant connexin 31 associated cell death is mediated by ER stress.
    Tattersall D; Scott CA; Gray C; Zicha D; Kelsell DP
    Hum Mol Genet; 2009 Dec; 18(24):4734-45. PubMed ID: 19755382
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation.
    Plum A; Winterhager E; Pesch J; Lautermann J; Hallas G; Rosentreter B; Traub O; Herberhold C; Willecke K
    Dev Biol; 2001 Mar; 231(2):334-47. PubMed ID: 11237463
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
    Tang C; Chen X; Chi J; Yang D; Liu S; Liu M; Pan Q; Fan J; Wang D; Zhang Z
    Hum Mol Genet; 2015 Nov; 24(21):6054-65. PubMed ID: 26251042
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Erythrokeratodermia variabilis (EKV)--a disorder due to altered epidermal expression of gap junction proteins].
    Ständer S; Stadelmann A; Traub O; Traupe H; Metze D
    J Dtsch Dermatol Ges; 2005 May; 3(5):354-8. PubMed ID: 16372802
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.