Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
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"You Shall Not Pass"-tight junctions of the blood brain barrierA developmental and genetic classification for malformations of cortical development: update 2012Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric CliniciansDelineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsLoss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infectionBrain Vascular Imaging TechniquesPolymicrogyria: a common and heterogeneous malformation of cortical development.Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification.Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ geneDeafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells.Polymicrogyria: pathology, fetal origins and mechanisms.A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.Malformations of cortical development: clinical features and genetic causesLPS Induces Occludin Dysregulation in Cerebral Microvascular Endothelial Cells via MAPK Signaling and Augmenting MMP-2 LevelsCopy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependenceEstablishment and Dysfunction of the Blood-Brain Barrier.Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.Exploring the potential relevance of human-specific genes to complex disease.Junctional proteins of the blood-brain barrier: New insights into function and dysfunction.Salvianolic Acid B Restored Impaired Barrier Function via Downregulation of MLCK by microRNA-1 in Rat Colitis ModelInverted low-copy repeats and genome instability--a genome-wide analysisThe role of human-specific gene duplications during brain development and evolution.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC).How the imaging investigation of EAST syndrome points towards the future of radiological multi-parametric phenotyping of a genetic disease.The inner blood-retinal barrier: Cellular basis and development.Recognizable phenotypes associated with intracranial calcification.Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.Occludin S471 Phosphorylation Contributes to Epithelial Monolayer Maturation.Alzheimer's disease: A matter of blood-brain barrier dysfunction?Sturge-Weber Syndrome Is Associated with Cortical Dysplasia ILAE Type IIIc and Excessive Hypertrophic Pyramidal Neurons in Brain Resections for Intractable Epilepsy.Common pathways of intracranial calcification and the role of the pericyte: insights from neuropathology.A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.The histopathology of polymicrogyria: a series of 71 brain autopsy studies.A novel rearrangement of occludin causes brain calcification and renal dysfunction.Patterns and pathways of calcification in the developing brain.Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum
P2860
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P2860
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին 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
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@ast
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@en
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@nl
type
label
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@ast
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@en
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@nl
prefLabel
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@ast
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@en
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@nl
P2093
P2860
P50
P1476
Recessive mutations in the gen ...... d gyration and polymicrogyria.
@en
P2093
Daniela T Pilz
John H Livingston
Knut Brockmann
Mary C O'Driscoll
Meriel McEntagart
Roger L Ladda
Sarah B Daly
Stefano D'Arrigo
Susan Sell
Waney Squier
P2860
P304
P356
10.1016/J.AJHG.2010.07.012
P407
P50
P577
2010-08-19T00:00:00Z