GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. - sprookjes - yvandenbroek - TriplyDB

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

http://www.wikidata.org/entity/Q34142314

about

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities Molecular Pathways Underlying Projection Neuron Production and Migration during Cerebral Cortical Development A developmental and genetic classification for malformations of cortical development: update 2012 Congenital muscular dystrophies: a brief review International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning Growth and folding of the mammalian cerebral cortex: from molecules to malformations Polymicrogyria: pathology, fetal origins and mechanisms.Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migration Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.GPR56 functions together with α3β1 integrin in regulating cerebral cortical development.G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development.The adhesion GPCR Gpr56 regulates oligodendrocyte development via interactions with Gα12/13 and RhoA Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.Morphological and functional aspects of progenitors perturbed in cortical malformations.Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.Neuropathology of brain and spinal malformations in a case of monosomy 1p36.Characterization of G protein-coupled receptor 56 protein expression in the mouse developing neocortex Cerebellar cysts in children: a pattern recognition approach.Disease-associated extracellular loop mutations in the adhesion G protein-coupled receptor G1 (ADGRG1; GPR56) differentially regulate downstream signaling.Adhesion GPCR-Related Protein Networks.Adhesion G-protein coupled receptors and extracellular matrix proteins: Roles in myelination and glial cell development.Recognizable phenotypes associated with intracranial calcification.Structural Basis for Regulation of GPR56/ADGRG1 by Its Alternatively Spliced Extracellular Domains.Ultra-high-field MR imaging in polymicrogyria and epilepsy Tubulinopathies and Their Brain Malformation Syndromes: Every TUB on Its Own Bottom Terminology in morphological anomalies of the cerebellum does matter.Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?Developing guinea pig brain as a model for cortical folding.Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients.Bilateral frontoparietal polymicrogyria.Cerebellar Bottom-of-Fissure Dysplasia-a Novel Cerebellar Gray Matter Neuroimaging Pattern.The histopathology of polymicrogyria: a series of 71 brain autopsy studies.Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

http://www.wikidata.org/entity/Q34142314

description

2010 nî lūn-bûn

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2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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GPR56-related bilateral fronto ...... with the cobblestone complex.

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Caroline Elie

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Catherine Fallet-Bianco

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Cherif Beldjord

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Christine Soufflet

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Isabelle An

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Jamel Chelly

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Karine Lascelles

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Marie Laure Moutard

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Michel Baulac

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Okay Caglayan

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P2860

G protein-coupled receptor-dependent development of human frontal cortex

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

GPR56 regulates pial basement membrane integrity and cortical lamination

GPR56-regulated granule cell adhesion is essential for rostral cerebellar development.

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3194-3209

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10.1093/BRAIN/AWQ259

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11

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133

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Nathalie Boddaert

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2010-10-07T00:00:00Z

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47370079

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20929962

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Bilateral frontoparietal polymicrogyria