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Items: 1 to 20 of 132

1.

Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing.

Wagner M, Hintner H, Bauer JW, Onder K.

Exp Dermatol. 2012 Feb;21(2):111-7. doi: 10.1111/j.1600-0625.2011.01420.x. Epub 2011 Dec 14.

PMID:
22168818
2.

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
3.

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
4.

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.

5.

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.

6.

Imbalance of intermediate filament component keratin 14 contributes to increased stress signalling in epidermolysis bullosa simplex.

Wagner M, Trost A, Hintner H, Bauer JW, Onder K.

Exp Dermatol. 2013 Apr;22(4):292-4. doi: 10.1111/exd.12112.

PMID:
23528216
7.

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
8.

Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys.

Tsuruta D, Sowa J, Tateishi C, Obase Y, Tsubura A, Fukumoto T, Ishii M, Kobayashi H, Sakaguchi S, Hashimoto T, Hamada T.

J Dermatol. 2011 Dec;38(12):1177-9. doi: 10.1111/j.1346-8138.2011.01302.x. Epub 2011 Oct 3.

PMID:
21967011
9.

Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes.

Liovic M, D'Alessandro M, Tomic-Canic M, Bolshakov VN, Coats SE, Lane EB.

Exp Cell Res. 2009 Oct 15;315(17):2995-3003. doi: 10.1016/j.yexcr.2009.07.013. Epub 2009 Jul 17.

PMID:
19616543
10.

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
11.

Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress condition.

Chamcheu JC, Lorié EP, Akgul B, Bannbers E, Virtanen M, Gammon L, Moustakas A, Navsaria H, Vahlquist A, Törmä H.

J Dermatol Sci. 2009 Mar;53(3):198-206. doi: 10.1016/j.jdermsci.2008.11.003. Epub 2009 Jan 20.

PMID:
19157792
12.

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
13.

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.

14.

A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.

Irvine AD, McKenna KE, Bingham A, Nevin NC, Hughes AE.

J Invest Dermatol. 1997 Dec;109(6):815-6.

15.

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
16.

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
17.

Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases.

D'Alessandro M, Morley SM, Ogden PH, Liovic M, Porter RM, Lane EB.

Gene Ther. 2004 Aug;11(16):1290-5.

PMID:
15215887
18.

MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex.

Lettner T, Lang R, Klausegger A, Hainzl S, Bauer JW, Wally V.

PLoS One. 2013 Jul 19;8(7):e70123. doi: 10.1371/journal.pone.0070123. Print 2013.

19.

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
20.

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

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