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Items: 1 to 20 of 234

1.

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E.

Cell. 1991 Sep 20;66(6):1301-11.

PMID:
1717157
2.

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.

Sørensen CB, Andresen BS, Jensen UB, Jensen TG, Jensen PK, Gregersen N, Bolund L.

Exp Dermatol. 2003 Aug;12(4):472-9. Erratum in: Exp Dermatol. 2004 Jul;13(7):462.

PMID:
12930305
3.

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.

Chan Y, Anton-Lamprecht I, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E.

Genes Dev. 1994 Nov 1;8(21):2574-87.

4.

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E.

J Cell Sci. 1994 Apr;107 ( Pt 4):765-74.

5.

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.

Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H.

J Biol Chem. 2002 Jun 28;277(26):23670-4. Epub 2002 Apr 24.

6.

Epidermolysis bullosa simplex.

Coulombe PA, Fuchs E.

Semin Dermatol. 1993 Sep;12(3):173-90. Review.

PMID:
7692916
7.

A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex.

Umeki K, Nomura K, Harada K, Hashimoto I.

J Dermatol Sci. 1996 Jan;11(1):64-9.

PMID:
8867769
8.

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

Müller FB, Küster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T, Korge BP, Arin MJ.

Hum Mutat. 2006 Jul;27(7):719-20.

PMID:
16786515
9.

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.

Rugg EL, Rachet-Préhu MO, Rochat A, Barrandon Y, Goossens M, Lane EB, Hovnanian A.

Eur J Hum Genet. 1999 Apr;7(3):293-300.

10.

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

Jerábková B, Marek J, Bucková H, Kopecková L, Veselý K, Valícková J, Fajkus J, Fajkusová L.

Br J Dermatol. 2010 May;162(5):1004-13. doi: 10.1111/j.1365-2133.2009.09626.x. Epub 2010 Feb 25.

PMID:
20030639
11.

Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.

Morley SM, D'Alessandro M, Sexton C, Rugg EL, Navsaria H, Shemanko CS, Huber M, Hohl D, Heagerty AI, Leigh IM, Lane EB.

Br J Dermatol. 2003 Jul;149(1):46-58.

PMID:
12890194
12.

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

Premaratne C, Klingberg S, Glass I, Wright K, Murrell D.

Australas J Dermatol. 2002 Feb;43(1):28-34.

PMID:
11869205
13.

A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.

Batta K, Rugg EL, Wilson NJ, West N, Goodyear H, Lane EB, Gratian M, Dopping-Hepenstal P, Moss C, Eady RA.

Br J Dermatol. 2000 Sep;143(3):621-7.

PMID:
10971341
14.

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].

Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse T, Jensen PK, Eiberg H, Bolund L, Gregersen N.

Ugeskr Laeger. 2000 Mar 27;162(13):1873-6. Danish.

PMID:
10765693
15.

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E.

Cell. 1992 Sep 4;70(5):811-9.

PMID:
1381287
16.

Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

Csikós M, Szalai Z, Becker K, Sebõk B, Schneider I, Horváth A, Kárpáti S.

Exp Dermatol. 2004 Mar;13(3):185-91.

PMID:
14987259
17.

Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.

Chan YM, Cheng J, Gedde-Dahl T Jr, Niemi KM, Fuchs E.

J Invest Dermatol. 1996 Feb;106(2):327-34.

18.

Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.

Morley SM, Dundas SR, James JL, Gupta T, Brown RA, Sexton CJ, Navsaria HA, Leigh IM, Lane EB.

J Cell Sci. 1995 Nov;108 ( Pt 11):3463-71.

19.

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.

Hamada T, Kawano Y, Szczecinska W, Wozniak K, Yasumoto S, Kowalewski C, Hashimoto T.

Arch Dermatol Res. 2005 Jun;296(12):577-9. Epub 2005 Apr 13.

PMID:
15827748
20.

DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.

Rugg EL, Baty D, Shemanko CS, Magee G, Polak S, Bergman R, Kadar T, Boxer M, Falik-Zaccai T, Borochowitz Z, Lane EB.

Prenat Diagn. 2000 May;20(5):371-7.

PMID:
10820403

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