Disease severity correlates with position of keratin point mutations in patients with 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 dysfunctional desmin mutation in a patient with severe generalized myopathyThe 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 severityHigh-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked regionReprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplexEpidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionA novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophyPreferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosisDefining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermathComplementary roles of specific cysteines in keratin 14 toward the assembly, organization, and dynamics of intermediate filaments in skin keratinocytesEpidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits.Defining the properties of the nonhelical tail domain in type II keratin 5: insight from a bullous disease-causing mutationCharacterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stagesModeling the self-organization property of keratin intermediate filaments.Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Two desmin gene mutations associated with myofibrillar myopathies in Polish familiesWhole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways.Keratins and skin disorders.Intermediate filaments and disease: mutations that cripple cell strength.Expression of an epidermal keratin protein in liver of transgenic mice causes structural and functional abnormalities.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.An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy.Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.Emerging roles of sumoylation in the regulation of actin, microtubules, intermediate filaments, and septinsThe genetic basis of epidermolysis bullosa simplex with mottled pigmentation.Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients.Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis.Severe palmo-plantar hyperkeratosis in Koebner epidermolysis bullosa simplex.Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases.Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex.Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
P2860
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P2860
Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.
description
1993 nî lūn-bûn
@nan
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
1993年论文
@zh
1993年论文
@zh-cn
name
Disease severity correlates wi ...... epidermolysis bullosa simplex.
@ast
Disease severity correlates wi ...... epidermolysis bullosa simplex.
@en
type
label
Disease severity correlates wi ...... epidermolysis bullosa simplex.
@ast
Disease severity correlates wi ...... epidermolysis bullosa simplex.
@en
prefLabel
Disease severity correlates wi ...... epidermolysis bullosa simplex.
@ast
Disease severity correlates wi ...... epidermolysis bullosa simplex.
@en
P2093
P2860
P356
P1476
Disease severity correlates wi ...... epidermolysis bullosa simplex.
@en
P2093
P2860
P304
P356
10.1073/PNAS.90.8.3197
P407
P577
1993-04-01T00:00:00Z