A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
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"You Shall Not Pass"-tight junctions of the blood brain barrierLINS, a modulator of the WNT signaling pathway, is involved in human cognitionMolecular mechanisms controlling vascular lumen formation in three-dimensional extracellular matricesCharacterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric CliniciansBrain barriers: Crosstalk between complex tight junctions and adherens junctionsDelineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsThe phenotypic spectrum of congenital Zika syndromeLoss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infectionHydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ geneHierarchical clustering of gene expression patterns in the Eomes + lineage of excitatory neurons during early neocortical developmentJunctional adhesion molecule (JAM)-C deficient C57BL/6 mice develop a severe hydrocephalus.Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.Junctional proteins of the blood-brain barrier: New insights into function and dysfunction.Neuroimaging of pediatric intracranial infection--part 2: TORCH, viral, fungal, and parasitic infections.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Tight junction dynamics: the role of junctional adhesion molecules (JAMs).Brain calcifications and PCDH12 variants.Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.Junctional Adhesion Molecules (JAMs): Cell Adhesion Receptors With Pleiotropic Functions in Cell Physiology and Development.Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.Lipopolysaccharide Mediates the Destruction of Intercellular Tight Junction among Renal Tubular Epithelial Cells via RhoT1/SMAD-4/JAM-3 Pathway.Neonatal stroke and haematuria: Answers.Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrumEncephalopathies with intracranial calcification in children: clinical and genetic characterization
P2860
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P2860
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին 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
A homozygous mutation in the t ...... ion, and congenital cataracts.
@ast
A homozygous mutation in the t ...... ion, and congenital cataracts.
@en
A homozygous mutation in the t ...... ion, and congenital cataracts.
@nl
type
label
A homozygous mutation in the t ...... ion, and congenital cataracts.
@ast
A homozygous mutation in the t ...... ion, and congenital cataracts.
@en
A homozygous mutation in the t ...... ion, and congenital cataracts.
@nl
prefLabel
A homozygous mutation in the t ...... ion, and congenital cataracts.
@ast
A homozygous mutation in the t ...... ion, and congenital cataracts.
@en
A homozygous mutation in the t ...... ion, and congenital cataracts.
@nl
P2093
P2860
P1476
A homozygous mutation in the t ...... ion, and congenital cataracts.
@en
P2093
A James Barkovich
Christopher A Walsh
Daniel Rakiec
Danielle Gleason
Ganeshwaran H Mochida
Jennifer N Partlow
Jillian M Felie
Katie Rose Clapham
Muna Al-Saffar
Nadia Akawi
P2860
P304
P356
10.1016/J.AJHG.2010.10.026
P407
P577
2010-11-25T00:00:00Z