Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects
about
The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotypeHeterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceGenetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genesMild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1Fraser syndrome in three consecutive siblings.AMACO is a component of the basement membrane-associated Fraser complex.p63 induces key target genes required for epidermal morphogenesis.Mesenchymal expression of the FRAS1/FREM2 gene unit is decreased in the developing fetal diaphragm of nitrofen-induced congenital diaphragmatic hernia.Expression of Fraser syndrome genes in normal and polycystic murine kidneys.Differential gene expression in the adrenals of normal and anencephalic fetuses and studies focused on the Fras-1-related extracellular matrix protein (FREM2) gene.Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteinsEvidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development.Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.Regulation of PDGFC signalling and extracellular matrix composition by FREM1 in mice.PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRαFREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.Pharyngeal morphogenesis requires fras1-itga8-dependent epithelial-mesenchymal interaction.Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.Segmental and restricted localization pattern of Fras1 in the developing meningeal basement membrane in mouse.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia.Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Molecular biology and genetics of embryonic eyelid development.Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders
P2860
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P2860
Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects
description
2006 nî lūn-bûn
@nan
2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին 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
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@ast
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@en
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@nl
type
label
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@ast
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@en
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@nl
prefLabel
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@ast
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@en
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@nl
P2860
P921
P356
P1476
Breakdown of the reciprocal st ...... s Fraser syndrome-like defects
@en
P2093
Kiyotoshi Sekiguchi
Nagisa Sugimoto
P2860
P304
11981-11986
P356
10.1073/PNAS.0601011103
P407
P577
2006-07-31T00:00:00Z