Human keratin diseases: hereditary fragility of specific epithelial tissues.
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Characterization of a 190-kilobase pair domain of human type I hair keratin genesDemonstration of the pathogenic effect of point mutated keratin 9 in vivoA novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophyEpidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)180-kD bullous pemphigoid antigen/type XVII collagen: tissue-specific expression and molecular interactions with keratin 18A novel mutation in the keratin 13 gene causing oral white sponge nevusDelayed wound healing in keratin 6a knockout micecDNA cloning, expression, and assembly characteristics of mouse keratin 16.Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?Molecular pathology of the cutaneous basement membrane zone.Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Label-free proteomics reveals decreased expression of CD18 and AKNA in peripheral CD4+ T cells from patients with Vogt-Koyanagi-Harada syndromeOntogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development.Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.Induction of disease-associated keratin 16 gene expression by epidermal growth factor is regulated through cooperation of transcription factors Sp1 and c-Jun.Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.Targeted deletion of keratins 18 and 19 leads to trophoblast fragility and early embryonic lethalityFascination with epithelia: architecture, proteins, and functions.Stratum corneum defensive functions: an integrated view.Pterygium epithelium abnormal differentiation related to activation of extracellular signal-regulated kinase signaling pathway in vitro.Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.Insights into the beaded filament of the eye lens.Diseases of epidermal keratins and their linker proteinsManagement of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.Current approaches to the diagnosis and treatment of white sponge nevus.Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice.Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex.An autocrine/paracrine loop linking keratin 14 aggregates to tumor necrosis factor alpha-mediated cytotoxicity in a keratinocyte model of epidermolysis bullosa simplex.Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases.Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.Lessons from keratin 18 knockout mice: formation of novel keratin filaments, secondary loss of keratin 7 and accumulation of liver-specific keratin 8-positive aggregates.Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene.
P2860
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P2860
Human keratin diseases: hereditary fragility of specific epithelial tissues.
description
1996 nî lūn-bûn
@nan
1996 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@ast
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@en
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@nl
type
label
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@ast
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@en
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@nl
prefLabel
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@ast
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@en
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@nl
P2860
P1476
Human keratin diseases: hereditary fragility of specific epithelial tissues.
@en
P2093
P2860
P304
P356
10.1111/J.1600-0625.1996.TB00133.X
P577
1996-12-01T00:00:00Z