Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
about
Gene defect in ectodermal dysplasia implicates a death domain adapter in developmentRole of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptorTRAF6-deficient mice display hypohidrotic ectodermal dysplasia.A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)Mammary gland developmentMutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasiaThe tumor suppressor CYLD interacts with TRIP and regulates negatively nuclear factor kappaB activation by tumor necrosis factorImpaired c-Jun amino terminal kinase activity and T cell differentiation in death receptor 6-deficient miceMolecular basis of hypohidrotic ectodermal dysplasia: an updateThe ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin ASpecific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasiaA common variation in EDAR is a genetic determinant of shovel-shaped incisorsNatural selection has driven population differentiation in modern humansNF-kappaB-related genetic diseasesAtypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)TROY, a newly identified member of the tumor necrosis factor receptor superfamily, exhibits a homology with Edar and is expressed in embryonic skin and hair folliclesEvo-Devo of amniote integuments and appendagesHairless mutation: a driving force of humanization from a human-ape common ancestor by enforcing upright walking while holding a baby with both handsA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.A genome-wide association study identifies multiple loci for variation in human ear morphologyDeficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.Zebrafish eda and edar mutants reveal conserved and ancestral roles of ectodysplasin signaling in vertebrates.Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands.EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd geneEctodermal dysplasias: a new clinical-genetic classificationEctodermal dysplasias: not only 'skin' deep.Death receptor signaling giving life to ectodermal organs.Hair on a gene string: recent advances in understanding the molecular genetics of hair loss.A common founder mutation in the EDA-A1 gene in X-linked hypodontia.Epidermal patterning and induction of different hair types during mouse embryonic development.Collagenous transmembrane proteins: recent insights into biology and pathology.Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: annotated tables.Generation of the primary hair follicle pattern.A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.Pharmacological stimulation of Edar signaling in the adult enhances sebaceous gland size and functionTo the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed
P2860
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P2860
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@ast
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@en
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@en-gb
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@nl
type
label
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@ast
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@en
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@en-gb
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@nl
prefLabel
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@ast
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@en
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@en-gb
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@nl
P2093
P3181
P356
P1433
P1476
Mutations in the human homolog ...... ohidrotic ectodermal dysplasia
@en
P2093
P2888
P304
P3181
P356
10.1038/11937
P407
P577
1999-08-01T00:00:00Z
P5875
P6179
1052497894