Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
about
Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinizationCollapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratodermaHigh-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked regionEpidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionRecent advances in understanding ichthyosis pathogenesisKeratin disorders: from gene to therapyIchthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Gene therapy and dermatology: more than just skin deep.Ontogeny 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.New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1Human keratin diseases: hereditary fragility of specific epithelial tissues.Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens.Keratin gene mutations in disorders of human skin and its appendages.Keratins and skin disorders.Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.A transgenic mouse model with an inducible skin blistering disease phenotype."IF-pathies": a broad spectrum of intermediate filament-associated diseases.Updated molecular genetics and pathogenesis of ichthiyoses.Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.Dry skin and blistering in childhood.Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis.Epidermal Differentiation in Barrier Maintenance and Wound Healing.Keratin 2e: a marker for murine nipple epidermis.Establishment of keratinocyte cell lines from human hair folliclesDisorders of Keratinization
P2860
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P2860
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@ast
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@en
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@en-gb
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@nl
type
label
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@ast
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@en
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@en-gb
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@nl
prefLabel
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@ast
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@en
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@en-gb
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@nl
P2093
P2860
P921
P3181
P356
P1433
P1476
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
@en
P2093
J A Rothnagel
M R Pittelkow
Y Ishibashi
P2860
P2888
P304
P3181
P356
10.1038/NG0894-485
P407
P577
1994-08-01T00:00:00Z
P5875
P6179
1047250915