Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

Item
http://www.wikidata.org/entity/Q28272365
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hairDesmosome regulation and signaling in diseaseCardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutationLack of plakoglobin in epidermis leads to keratodermaLack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entityDesmosomes: regulators of cellular signaling and adhesion in epidermal health and disease.Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosaAnalysis of a Jup hypomorphic allele reveals a critical threshold for postnatal viability.Beyond cell adhesion: the role of armadillo proteins in the heartDesmosomal genodermatoses.Cell-cell connectivity: desmosomes and disease.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.Alterations in cell adhesion proteins and cardiomyopathy.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.RNAi-mediated inhibition of the desmosomal cadherin (desmoglein 3) impairs epithelial cell proliferation.
P2860

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

Item
http://www.wikidata.org/entity/Q28272365
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Homozygous mutations in the 5' ...... heart development in children
@ast
Homozygous mutations in the 5' ...... heart development in children
@en
Homozygous mutations in the 5' ...... heart development in children
@nl
type
label
Homozygous mutations in the 5' ...... heart development in children
@ast
Homozygous mutations in the 5' ...... heart development in children
@en
Homozygous mutations in the 5' ...... heart development in children
@nl
prefLabel
Homozygous mutations in the 5' ...... heart development in children
@ast
Homozygous mutations in the 5' ...... heart development in children
@en
Homozygous mutations in the 5' ...... heart development in children
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
Homozygous mutations in the 5' ...... heart development in children
@en
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698