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Items: 1 to 20 of 175

1.

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
2.

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
3.

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
4.

Erythrokeratodermia variabilis with erythema gyratum repens-like lesions.

Landau M, Cohen-Bar-Dayan M, Hohl D, Ophir J, Wolf CR, Gat A, Mevorah B.

Pediatr Dermatol. 2002 Jul-Aug;19(4):285-92.

PMID:
12220269
5.

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

PMID:
22266302
7.

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.

PMID:
14583444
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.

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
10.

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
11.

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.

PMID:
12019212
12.

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.

PMID:
17446259
13.

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.

PMID:
12702148
14.

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.

15.

Erythrokeratoderma variabilis without GJB3 or GJB4 mutation: a review of Japanese patients.

Nakamura M.

Br J Dermatol. 2007 Aug;157(2):410-1. Epub 2007 Jun 15. No abstract available.

PMID:
17573869
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. German.

PMID:
16372802
17.

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
18.

Novel mutation of connexin 31 causing erythrokeratoderma variabilis.

Feldmeyer L, Plantard L, Mevorah B, Huber M, Hohl D.

Br J Dermatol. 2005 May;152(5):1072-4. No abstract available.

PMID:
15888179
19.

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
20.

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.

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