Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria (Q34104062)

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English	Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria	scientific article

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Europe PubMed Central

PubMed publication ID

31 July 2017

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria (English)

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Europe PubMed Central

PubMed publication ID

31 July 2017

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31 July 2017

William B. Dobyns

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31 July 2017

Jill E. Urquhart

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Jill E Urquhart

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Ghada M Abdel-Salam

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Ghada Abdel-Salam

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Maha Zaki

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Nicole I Wolf

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Yanick J Crow

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Daniela T Pilz

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31 July 2017

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Mary C O'Driscoll

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31 July 2017

Sarah B Daly

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31 July 2017

Knut Brockmann

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31 July 2017

Meriel McEntagart

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31 July 2017

Roger L Ladda

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31 July 2017

Susan Sell

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31 July 2017

Stefano D'Arrigo

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31 July 2017

Waney Squier

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John H Livingston

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19 August 2010

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American Journal of Human Genetics

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31 July 2017

87

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31 July 2017

3

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31 July 2017

354-364

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31 July 2017

Splicing diversity of the human OCLN gene and its biological significance for hepatitis C virus entry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Tight junction-associated MARVEL proteins marveld3, tricellulin, and occludin have distinct but overlapping functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

The tight junction protein, occludin, regulates the directional migration of epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Identification of MarvelD3 as a tight junction-associated transmembrane protein of the occludin family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Structure and function of the blood-brain barrier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Occludin phosphorylation in regulation of epithelial tight junctions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Peripheral nerve pericytes originating from the blood-nerve barrier expresses tight junctional molecules and transporters as barrier-forming cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

A novel splice variant of occludin deleted in exon 9 and its role in cell apoptosis and invasion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Tight junctions and the modulation of barrier function in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review

1 reference

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5 July 2018

Beta-tubulin cofactor D and ARL2 take part in apical junctional complex disassembly and abrogate epithelial structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

1 reference

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5 July 2018

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

1 reference

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5 July 2018

Neutrophils and the blood-brain barrier dysfunction after trauma

1 reference

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5 July 2018

Microtubules regulate disassembly of epithelial apical junctions

1 reference

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5 July 2018

SRPX2 mutations in disorders of language cortex and cognition

1 reference

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5 July 2018

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

1 reference

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5 July 2018

Angiogenesis and pericytes in the initiation of ectopic calcification

1 reference

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5 July 2018

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

1 reference

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5 July 2018

Genetics of the polymicrogyria syndromes.

1 reference

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5 July 2018

MUSCLE: multiple sequence alignment with high accuracy and high throughput

1 reference

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5 July 2018

Size-selective loosening of the blood-brain barrier in claudin-5-deficient mice

1 reference

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5 July 2018

Polymicrogyria and absence of pineal gland due to PAX6 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

MARVEL: a conserved domain involved in membrane apposition events

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Gene expression of the tight junction protein occludin includes differential splicing and alternative promoter usage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Early predictors of neurodevelopmental outcome in symptomatic congenital cytomegalovirus infection.

1 reference

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5 July 2018

Complex phenotype of mice lacking occludin, a component of tight junction strands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Occludin 1B, a variant of the tight junction protein occludin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

CNS myelin and sertoli cell tight junction strands are absent in Osp/claudin-11 null mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

A single gene product, claudin-1 or -2, reconstitutes tight junction strands and recruits occludin in fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Occludin-deficient embryonic stem cells can differentiate into polarized epithelial cells bearing tight junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

1 reference

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5 July 2018

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

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5 July 2018

COOH terminus of occludin is required for tight junction barrier function in early Xenopus embryos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Occludin as a possible determinant of tight junction permeability in endothelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Loss of occludin and functional tight junctions, but not ZO-1, during neural tube closure--remodeling of the neuroepithelium prior to neurogenesis.

1 reference

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5 July 2018

Functional dissociation of paracellular permeability and transepithelial electrical resistance and disruption of the apical-basolateral intramembrane diffusion barrier by expression of a mutant tight junction membrane protein

1 reference

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5 July 2018

An overview of epithelio-mesenchymal transformation

1 reference

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Localised neuronal migration disorder and intractable epilepsy: a prenatal vascular aetiology

1 reference

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5 July 2018

Occludin: a novel integral membrane protein localizing at tight junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933344

5 July 2018

Cerebral microgyria in a 27-week fetus: an architectonic and topographic analysis

1 reference

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5 July 2018

Parabiotic twin syndrome with topical isocortical disruption and gastroschisis

1 reference

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5 July 2018

Developmental Foix-Chavany-Marie syndrome in identical twins.

1 reference

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5 July 2018

Repair and reconstruction of the cortical plate following closed cryogenic injury to the neonatal rat cerebrum

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5 July 2018

Migration of neuroblasts through partial necrosis of the cerebral cortex in newborn rats-contribution to the problems of morphological development and developmental period of cerebral microgyria. Histological and autoradiographical study

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5 July 2018

The cellular pathology of microgyria. A Golgi analysis

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28 October 2018

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

1 reference

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28 October 2018

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

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28 October 2018

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

1 reference

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28 October 2018

Tight junction targeting and intracellular trafficking of occludin in polarized epithelial cells

1 reference

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28 October 2018

An intimate interplay between precocious, migrating pericytes and endothelial cells governs human fetal brain angiogenesis.

1 reference

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28 October 2018

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

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Development of tight junction molecules in blood vessels of germinal matrix, cerebral cortex, and white matter

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Immunolocalization of tight junction proteins in the adult and developing human brain

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MICRO syndrome: an entity distinct from COFS syndrome.

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28 October 2018

Occludin TM4(-): an isoform of the tight junction protein present in primates lacking the fourth transmembrane domain.

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Pathogenesis of four-layered microgyric cortex in man.

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Unlayered polymicrogyria : structural and developmental aspects

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Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes

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28 October 2018

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10.1016/J.AJHG.2010.07.012

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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