111 related articles for article (PubMed ID: 26251042)
1. 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]
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. 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]
4. 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]
5. 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]
6. Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3.
Kokotas H; Papagiannaki K; Grigoriadou M; Petersen MB; Katsarou A
Eur J Dermatol; 2012; 22(2):182-6. PubMed ID: 22266302
[TBL] [Abstract][Full Text] [Related]
7. Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death.
Chi J; Li L; Liu M; Tan J; Tang C; Pan Q; Wang D; Zhang Z
PLoS One; 2012; 7(2):e32531. PubMed ID: 22393412
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.
Scott CA; O'Toole EA; Mohungoo MJ; Messenger A; Kelsell DP
Clin Exp Dermatol; 2011 Jan; 36(1):88-90. PubMed ID: 21188847
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
Bailey RA; Beahm DL; Skerrett IM
Int J Mol Sci; 2021 Mar; 22(5):. PubMed ID: 33807656
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying
Hotz A; Fölster-Holst R; Oji V; Bourrat E; Frank J; Marrakchi S; Ennouri M; Wankner L; Komlosi K; Alter S; Fischer J
Genes (Basel); 2024 Feb; 15(3):. PubMed ID: 38540347
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.
Unsworth HC; Aasen T; McElwaine S; Kelsell DP
Hum Mol Genet; 2007 Jan; 16(2):165-72. PubMed ID: 17142249
[TBL] [Abstract][Full Text] [Related]
18. Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
Fuchs-Telem D; Pessach Y; Mevorah B; Shirazi I; Sarig O; Sprecher E
Clin Exp Dermatol; 2011 Jun; 36(4):406-11. PubMed ID: 21564177
[TBL] [Abstract][Full Text] [Related]
19. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
Macari F; Landau M; Cousin P; Mevorah B; Brenner S; Panizzon R; Schorderet DF; Hohl D; Huber M
Am J Hum Genet; 2000 Nov; 67(5):1296-301. PubMed ID: 11017804
[TBL] [Abstract][Full Text] [Related]
20. Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
Common JE; O'Toole EA; Leigh IM; Thomas A; Griffiths WA; Venning V; Grabczynska S; Peris Z; Kansky A; Kelsell DP
J Invest Dermatol; 2005 Nov; 125(5):920-7. PubMed ID: 16297190
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]