Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
about
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severityEpidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionGenetic disorders of palm skin and nailIsolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophyCaspase cleavage of keratin 18 and reorganization of intermediate filaments during epithelial cell apoptosisHuman keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.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.Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in mammalian cells.Keratins and skin disorders.Intermediate filaments and disease: mutations that cripple cell strength.Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.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.Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif
P2860
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P2860
Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
description
1993 nî lūn-bûn
@nan
1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի նոյեմբերին 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
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@ast
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@en
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@nl
type
label
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@ast
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@en
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@nl
prefLabel
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@ast
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@en
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@nl
P2093
P2860
P356
P1433
P1476
Missing links: Weber-Cockayne ...... ffective cytoskeleton function
@en
P2093
H Navsaria
M J Tidman
S M Morley
P2860
P2888
P304
P356
10.1038/NG1193-294
P407
P577
1993-11-01T00:00:00Z