Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
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Identification of three novel NHS mutations in families with Nance-Horan syndromeInterdomain interactions in the tumor suppressor discs large regulate binding to the synaptic protein GukHolder.Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencingA novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.The status of intercellular junctions in established lens epithelial cell lines.The N and C termini of ZO-1 are surrounded by distinct proteins and functional protein networks.Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformCongenital cataracts and their molecular geneticsX-linked cataract and Nance-Horan syndrome are allelic disorders.Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.Drosophila melanogaster Guk-holder interacts with the Scribbled PDZ1 domain and regulates epithelial development with Scribbled and Discs Large.Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?A novel small deletion in the NHS gene associated with Nance-Horan syndrome.Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.
P2860
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P2860
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
description
2006 nî lūn-bûn
@nan
2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@ast
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@en
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@nl
type
label
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@ast
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@en
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@nl
prefLabel
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@ast
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@en
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@nl
P2093
P356
P1476
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
@en
P2093
Jamie E Craig
John W McAvoy
Marie Shaw
Sharyn L Ang
Shiwani Sharma
P304
P356
10.1093/HMG/DDL120
P577
2006-05-04T00:00:00Z