A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
about
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament proteinA mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail typeIsolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophyHuman keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Mutation analysis of human cytokeratin 8 gene in malignant rhabdoid tumor: a possible association with intracytoplasmic inclusion body formation.Human keratin diseases: hereditary fragility of specific epithelial tissues.Intermediate filaments and disease: mutations that cripple cell strength.Keratin gene mutations in human skin disease.Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing.Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.Effect of mutation and phosphorylation of type I keratins on their caspase-mediated degradation.A functional "knockout" of human keratin 14.Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.Apoptosis generates stable fragments of human type I keratins.
P2860
Q24306295-C69F4964-9A92-4039-B6B1-066B19C3FC91Q24655884-2B10D369-421C-495E-AC12-E31CEE922E7AQ24677029-07FEA1FC-CFFC-4D26-BA72-F55AD6280A01Q33650116-3004F21A-791A-4107-8EAA-CB498F9DDAA1Q34114635-0454859A-662C-4443-A1D4-5EF9A55C51E8Q34416078-777256B9-5DFF-4579-8440-402AA0DAAB00Q36233886-38C28565-1909-4F67-81F2-A7FA8CDFDA23Q38634647-C9E554F5-C0AB-44B8-AB6D-23B4B176D04EQ39428737-09847E70-E271-4780-B939-4BAAB17EDA6BQ40243273-02A43D09-50F6-46C5-B2BD-3A9FBE1F140AQ40805548-128176EF-AC0C-4D10-87AB-600E7F49D09CQ42476606-75D68605-ABE4-4700-B8AD-85ACFD96D813Q43899060-6023D7F2-0153-4DA0-A60C-4F1E974397D5Q44865350-00072FE3-444A-4722-93C9-6B5D176D5C82
P2860
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
description
1993 nî lūn-bûn
@nan
1993 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A mutation (Met-->Arg) in the ...... epidermolysis bullosa simplex.
@ast
A mutation (Met-->Arg) in the ...... epidermolysis bullosa simplex.
@en
A mutation
@nl
type
label
A mutation (Met-->Arg) in the ...... epidermolysis bullosa simplex.
@ast
A mutation (Met-->Arg) in the ...... epidermolysis bullosa simplex.
@en
A mutation
@nl
prefLabel
A mutation (Met-->Arg) in the ...... epidermolysis bullosa simplex.
@ast
A mutation (Met-->Arg) in the ...... epidermolysis bullosa simplex.
@en
A mutation
@nl
P2093
P2860
P356
P1433
P1476
A mutation (Met-->Arg) in the ...... epidermolysis bullosa simplex
@en
P2093
Humphries MM
Humphries P
Kumar-Singh R
P2860
P356
10.1002/HUMU.1380020107
P577
1993-01-01T00:00:00Z