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Items: 1 to 20 of 127

1.

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.

PMID:
21188847
2.

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. doi: 10.1111/j.1365-2230.2010.03986.x.

PMID:
21564177
3.

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 Mar-Apr;22(2):182-6. doi: 10.1684/ejd.2011.1617.

PMID:
22266302
4.

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.

PMID:
15948974
5.

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.

6.

Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.

Sbidian E, Bousseloua N, Jonard L, Leclerc-Mercier S, Bodemer C, Hadj-Rabia S.

Acta Derm Venereol. 2013 Mar 27;93(2):193-5. doi: 10.2340/00015555-1436. No abstract available.

7.

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.

8.

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. Epub 2000 Oct 3.

9.

Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies.

Arita K, Akiyama M, Tsuji Y, Onozuka T, Shimizu H.

Acta Derm Venereol. 2003;83(4):266-70.

PMID:
12926797
10.

Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.

Liu H, Liu H, Fu XA, Yu YX, Zhou GZ, Lu XM, Tian HQ, Yu CP, Shi ZX, Yu ML, Zhang FR.

J Dermatol. 2012 Apr;39(4):400-1. doi: 10.1111/j.1346-8138.2011.01314.x. Epub 2011 Sep 28. No abstract available.

PMID:
21950330
11.

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 15;12(24):3287-94. Epub 2003 Oct 28.

12.

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 15;11(11):1311-6.

13.

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.

PMID:
10798362
14.

Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.

Wei S, Zhou Y, Zhang TD, Huang ZM, Zhang XB, Zhu HL, Liang BH, Lin L, Deng L.

Clin Exp Dermatol. 2011 Jun;36(4):399-405. doi: 10.1111/j.1365-2230.2010.03974.x. Epub 2010 Dec 24.

PMID:
21198793
15.

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ.

Nat Genet. 1998 Dec;20(4):366-9.

PMID:
9843209
16.

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 15;16(10):1216-24. Epub 2007 Apr 19.

17.

A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis.

Wang ZX, Lu WS, Li H, Lin D, Zhou FS, Sun LD, Yang S, Zhang XJ.

J Eur Acad Dermatol Venereol. 2011 Jan;25(1):113-5. doi: 10.1111/j.1468-3083.2010.03691.x. No abstract available.

PMID:
20497287
18.

Familial erythrokeratodermia variabilis with pustular lesions: a new variant?

Zhang L, Huo W, Gao XH, Ma L, Xiu Y, Zheng S, Hong Y, Chen HD.

Acta Derm Venereol. 2010 May;90(3):274-8. doi: 10.2340/00015555-0821.

19.

The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.

van Steensel MA, Oranje AP, van der Schroeff JG, Wagner A, van Geel M.

Am J Med Genet A. 2009 Feb 15;149A(4):657-61. doi: 10.1002/ajmg.a.32744.

PMID:
19291775
20.

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

Yang JJ, Huang SH, Chou KH, Liao PJ, Su CC, Li SY.

Audiol Neurootol. 2007;12(3):198-208. Epub 2007 Jan 25. Erratum in: Audiol Neurootol. 2007;12(5):344.

PMID:
17259707
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