Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
about
Characterization of a 190-kilobase pair domain of human type I hair keratin genesDemonstration of the pathogenic effect of point mutated keratin 9 in vivoMutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of SiemensA human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament proteinA splice site mutation in the gene of the human type I hair keratin hHa1 results in the expression of a tailless keratin isoformKeratin 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-q21Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosisEpidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionGenetic 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 dystrophyIdentification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscleKeratin disorders: from gene to therapyA new mutation Rim3 resembling Re(den) is mapped close to retinoic acid receptor alpha (Rara) gene on mouse chromosome 11A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH)Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Gene therapy and dermatology: more than just skin deep.The molecular bases for the palmoplantar keratodermas.New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma.Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.The genetics of human skin disease.Disruption of muscle architecture and myocardial degeneration in mice lacking desminHuman keratin diseases: hereditary fragility of specific epithelial tissues.Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers.Keratin expression in human tissues and neoplasms.The human keratins: biology and pathology.Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogsKeratins and skin disorders.Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.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.A dermal HOX transcriptional program regulates site-specific epidermal fate.Rationalising the role of Keratin 9 as a biomarker for Alzheimer's disease.Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.PhenoDigm: analyzing curated annotations to associate animal models with human diseases.To Control Site-Specific Skin Gene Expression, Autocrine Mimics Paracrine Canonical Wnt Signaling and Is Activated Ectopically in Skin DiseaseA Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy.
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P2860
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
description
1994 nî lūn-bûn
@nan
1994 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի փետրվարին 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
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
@ast
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
@en
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma
@nl
type
label
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
@ast
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
@en
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma
@nl
prefLabel
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
@ast
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
@en
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma
@nl
P2093
P2860
P356
P1433
P1476
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
@en
P2093
Drechsler M
Hennies HC
Langbein L
Royer-Pokora B
Sperling K
P2860
P2888
P304
P356
10.1038/NG0294-174
P407
P577
1994-02-01T00:00:00Z