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Results: 1 to 20 of 121

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
8586658
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
10234505
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
9406827
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.

Smith FJ, Morley SM, McLean WH.

J Invest Dermatol. 2004 Jan;122(1):73-7.

PMID:
14962092
[PubMed - indexed for MEDLINE]
Free Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
7525408
[PubMed - indexed for MEDLINE]
Free Article
16.

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.

PMID:
8601736
[PubMed - indexed for MEDLINE]
17.

Expression signature of epidermolysis bullosa simplex.

Bchetnia M, Tremblay ML, Leclerc G, Dupérée A, Powell J, McCuaig C, Morin C, Legendre-Guillemin V, Laprise C.

Hum Genet. 2012 Mar;131(3):393-406. doi: 10.1007/s00439-011-1077-7. Epub 2011 Aug 30.

PMID:
21877134
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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