Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
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Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin diseaseMutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexG protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growthEpidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- miceRapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversitySpink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivityFounder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosisMutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.Protease activity, localization and inhibition in the human hair follicle.Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.Translational benefits from research on rare genodermatoses.Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesisInherited disorders of desmosomes.Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology.A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats.To grow or not to grow: hair morphogenesis and human genetic hair disordersDesmosomal genodermatoses.Cell-cell connectivity: desmosomes and disease.Congenital hair loss disorders: rare, but not too rare.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Genetics of human isolated hereditary hair loss disorders.Epidermal barrier disorders and corneodesmosome defects.Inherited desmosomal disorders.Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.Predictive mutational bioinformatic analysis of variation in the skin and wool associated corneodesmosin (CDSN) gene in sheep.Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.Hair abnormalities in genetic disorders of junctionsDesmosomes at a glanceIdentification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.Age-related changes in the composition of the cornified envelope in human skin.Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.A novel mutation in CDSN causes peeling skin disease in a patient from Morocco.Association analysis of the HLA-C gene in Japanese alopecia areata.A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family.Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.Inflammatory peeling skin syndrome caused a novel mutation in CDSN.Disentangling the roots of inherited hair disorders.Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani familiesA non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp
P2860
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P2860
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@ast
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@en
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@nl
type
label
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@ast
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@en
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@nl
prefLabel
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@ast
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@en
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@nl
P2093
P50
P356
P1433
P1476
Hypotrichosis simplex of the s ...... n CDSN encoding corneodesmosin
@en
P2093
Boleslaw Goldman
Etgar Levy-Nissenbaum
Georg Dewald
Hadas Lahat
Jaime Toribio
Marina Guerrin
Michel Simon
Monika Pierick
Moshe Frydman
P2888
P356
10.1038/NG1163
P407
P577
2003-06-01T00:00:00Z
P6179
1008404057