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Items: 1 to 20 of 87

1.

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH Jr.

Hum Mol Genet. 1993 Nov;2(11):1971-2. No abstract available.

PMID:
7506606
2.

A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.

Yamanishi K, Matsuki M, Konishi K, Yasuno H.

Hum Mol Genet. 1994 Jul;3(7):1171-2. No abstract available.

PMID:
7526926
3.

Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.

Matsuki M, Hashimoto K, Yoshikawa K, Yasuno H, Yamanishi K.

Hum Mol Genet. 1995 Oct;4(10):1999-2000. No abstract available.

PMID:
8595431
4.

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.

5.

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.

Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto A, Eady RA.

Nature. 1992 Mar 19;356(6366):244-6.

PMID:
1372711
6.

Alu polymorphism in the human type I Keratin (KRT14) gene.

Humphries MM, Sheils DM, Jordan SA, Farrar GJ, Kumar-Singh R, Humphries P.

Hum Mol Genet. 1992 Sep;1(6):453. No abstract available.

PMID:
1284533
7.

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M.

Nat Genet. 1993 Apr;3(4):327-32.

PMID:
7526933
8.
9.
10.

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.

11.

Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.

Bonifas JM, Rothman AL, Epstein EH Jr.

Science. 1991 Nov 22;254(5035):1202-5.

PMID:
1720261
12.

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.

14.

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
15.

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.

16.

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.

Ołdak M, Kowalewski C, Maksym RB, Woźniak K, Pollak A, Podgórska M, Wnorowski A, Kosińska J, Płoski R.

J Dermatol Sci. 2010 Jan;57(1):69-70. doi: 10.1016/j.jdermsci.2009.09.006. Epub 2009 Oct 24. No abstract available.

PMID:
19854623
17.

A functional "knockout" of human keratin 14.

Rugg EL, McLean WH, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJ, Navsaria HA, Leigh IM, Eady RA.

Genes Dev. 1994 Nov 1;8(21):2563-73.

18.

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P.

Hum Mutat. 1993;2(1):37-42.

PMID:
7682883
19.

A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.

Li XL, Xiao SX, Peng ZH, Liu Y, Pan M, Zhou SN.

J Eur Acad Dermatol Venereol. 2007 Aug;21(7):979-81. No abstract available.

PMID:
17659012
20.

Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.

Müller FB, Küster W, Bruckner-Tuderman L, Korge BP.

J Invest Dermatol. 1998 Nov;111(5):900-2.

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