A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
about
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament proteinA gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21The genetic basis of Weber-Cockayne epidermolysis bullosa simplexGenetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severityThe function of intermediate filaments in cell shape and cytoskeletal integrityIncreased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skinPreferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosisGenetic disorders of palm skin and nailDesmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscleDefining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermathKeratin 8 phosphorylation by p38 kinase regulates cellular keratin filament reorganization: modulation by a keratin 1-like disease causing mutationA missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosaDirect evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelopeMouse keratin 4 is necessary for internal epithelial integrityA highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases.Intermediate filaments: a historical perspectiveHuman keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Type II keratins are phosphorylated on a unique motif during stress and mitosis in tissues and cultured cells.New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.Mutation analysis of human cytokeratin 8 gene in malignant rhabdoid tumor: a possible association with intracytoplasmic inclusion body formation.Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1Vimentin as an integral regulator of cell adhesion and endothelial sprouting.Disruption of muscle architecture and myocardial degeneration in mice lacking desminHuman keratin diseases: hereditary fragility of specific epithelial tissues.Keratin gene mutations in disorders of human skin and its appendages.Keratin 1 plays a critical role in golgi localization of core 2 N-acetylglucosaminyltransferase M via interaction with its cytoplasmic tail.Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster.Keratins and skin disorders.Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.Dynamics of keratin assembly: exogenous type I keratin rapidly associates with type II keratin in vivo.Inhibition of desmin expression blocks myoblast fusion and interferes with the myogenic regulators MyoD and myogenin.Intermediate filaments and disease: mutations that cripple cell strength.The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.Functional differences between keratins of stratified and simple epithelia.Keratins turn over by ubiquitination in a phosphorylation-modulated fashionFocal activation of a mutant allele defines the role of stem cells in mosaic skin disordersThe rod domain of NF-L determines neurofilament architecture, whereas the end domains specify filament assembly and network formation
P2860
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P2860
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
description
1992 nî lūn-bûn
@nan
1992 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@ast
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@en
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@en-gb
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@nl
type
label
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@ast
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@en
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@en-gb
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@nl
prefLabel
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@ast
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@en
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@en-gb
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@nl
P2093
P1433
P1476
A leucine----proline mutation ...... s epidermolytic hyperkeratosis
@en
P2093
C C Chipev
J G Compton
J J DiGiovanna
P M Steinert
P356
10.1016/0092-8674(92)90315-4
P407
P577
1992-09-04T00:00:00Z