Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene - Wikidata - awgldk - TriplyDB

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

http://www.wikidata.org/entity/Q33623622

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Progress in brain barriers and brain fluid research in 2017.Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

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Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

http://www.wikidata.org/entity/Q33623622

description

2017 nî lūn-bûn

@nan

2017 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2017 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2017年の論文

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

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2017年学术文章

@zh-my

2017年学术文章

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2017年學術文章

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name

Hydrocephalus due to multiple ...... by mutations in the MPDZ gene

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Hydrocephalus due to multiple ...... by mutations in the MPDZ gene

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Hydrocephalus due to multiple ...... by mutations in the MPDZ gene

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Hydrocephalus due to multiple ...... by mutations in the MPDZ gene

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Hydrocephalus due to multiple ...... by mutations in the MPDZ gene

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Hydrocephalus due to multiple ...... by mutations in the MPDZ gene

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S40478-017-0438-4

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Acta neuropathologica communications

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Hydrocephalus due to multiple ...... by mutations in the MPDZ gene

@en

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Alice Goldenberg

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Fabien Guimiot

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Florent Marguet

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François Lecoquierre

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Marie Brasseur-Daudruy

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Marion Gérard

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Pascale Saugier-Veber

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Sara Cipriani

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Sophie Patrier

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Thierry Frébourg

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P2860

Development and evolution of the human neocortex

Multi-PDZ domain protein 1 (MUPP1) is concentrated at tight junctions through its possible interaction with claudin-1 and junctional adhesion molecule

Cloning and characterization of MUPP1, a novel PDZ domain protein

Molecular characterization of angiomotin/JEAP family proteins: interaction with MUPP1/Patj and their endogenous properties

The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate

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

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.

Architecture of tight junctions and principles of molecular composition.

Genetic deletion of afadin causes hydrocephalus by destruction of adherens junctions in radial glial and ependymal cells in the midbrain

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1

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Homa Adle-Biassette

Annie Laquerrière

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2017-05-01T00:00:00Z

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