Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
about
Demonstration of the pathogenic effect of point mutated keratin 9 in vivoA human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament proteinKeratin 16 and keratin 17 mutations cause pachyonychia congenitaKeratin 20 helps maintain intermediate filament organization in intestinal epitheliaA dysfunctional desmin mutation in a patient with severe generalized myopathyKeratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formationA gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21The genetic basis of Weber-Cockayne epidermolysis bullosa simplexMutation of human keratin 18 in association with cryptogenic cirrhosisDefective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophyGenetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severityA novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophyReprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplexA novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophyEpidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionIncreased 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 nailIsolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophyDesmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscleHeat shock protein 70 expression, keratin phosphorylation and Mallory body formation in hepatocytes from griseofulvin-intoxicated miceDefining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermathPost-translational modifications of intermediate filament proteins: mechanisms and functionsKeratin disorders: from gene to therapyComplementary roles of specific cysteines in keratin 14 toward the assembly, organization, and dynamics of intermediate filaments in skin keratinocytesStructural basis for heteromeric assembly and perinuclear organization of keratin filamentsA missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosaMissing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton functionSusceptibility to hepatotoxicity in transgenic mice that express a dominant-negative human keratin 18 mutantA new mutation Rim3 resembling Re(den) is mapped close to retinoic acid receptor alpha (Rara) gene on mouse chromosome 11Mouse keratin 4 is necessary for internal epithelial integrityStabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragilityDiscovery of keratin function and role in genetic diseases: the year that 1991 was.Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits.Keratins significantly contribute to cell stiffness and impact invasive behaviorIdentification of novel principles of keratin filament network turnover in living cellsA role for disulfide bonding in keratin intermediate filament organization and dynamics in skin keratinocytes.Amelogenin interacts with cytokeratin-5 in ameloblasts during enamel growth.Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.Intermediate filaments: a historical perspective
P2860
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P2860
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Point mutations in human kerat ...... netic and functional analyses.
@en
Point mutations in human kerat ...... netic and functional analyses.
@nl
type
label
Point mutations in human kerat ...... netic and functional analyses.
@en
Point mutations in human kerat ...... netic and functional analyses.
@nl
prefLabel
Point mutations in human kerat ...... netic and functional analyses.
@en
Point mutations in human kerat ...... netic and functional analyses.
@nl
P2093
P1433
P1476
Point mutations in human kerat ...... netic and functional analyses.
@en
P2093
P304
P356
10.1016/0092-8674(91)90051-Y
P407
P577
1991-09-01T00:00:00Z