Filamin B mutations cause chondrocyte defects in skeletal development - Wikidata - wikimedia - TriplyDB

Filamin B mutations cause chondrocyte defects in skeletal development

Filamin B mutations cause chondrocyte defects in skeletal development

http://www.wikidata.org/entity/Q28302896

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Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.Filamin B plays a key role in vascular endothelial growth factor-induced endothelial cell motility through its interaction with Rac-1 and Vav-2.Temperature alters solute transport in growth plate cartilage measured by in vivo multiphoton microscopy.The ECM-cell interaction of cartilage extracellular matrix on chondrocytes.Filamins in mechanosensing and signaling.Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.Targeting filamin B induces tumor growth and metastasis via enhanced activity of matrix metalloproteinase-9 and secretion of VEGF-A.Systematic analysis of somatic mutations in phosphorylation signaling predicts novel cancer drivers Diverse functions for the semaphorin receptor PlexinD1 in development and disease.Conditional testing of multiple variants associated with bone mineral density in the FLNB gene region suggests that they represent a single association signal.Filamin B regulates chondrocyte proliferation and differentiation through Cdk1 signaling The E3 ubiquitin ligase specificity subunit ASB2α targets filamins for proteasomal degradation by interacting with the filamin actin-binding domain Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients Whole-genome sequencing reveals small genomic regions of introgression in an introduced crater lake population of threespine stickleback.ASB2 targets filamins A and B to proteasomal degradation.Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation Leucine restriction inhibits chondrocyte proliferation and differentiation through mechanisms both dependent and independent of mTOR signaling ASB2α, an E3 ubiquitin ligase specificity subunit, regulates cell spreading and triggers proteasomal degradation of filamins by targeting the filamin calponin homology 1 domain Upregulation of neurovascular communication through filamin abrogation promotes ectopic periventricular neurogenesis.Rapamycin regulates autophagy and cell adhesion in induced pluripotent stem cells.Refilins are short-lived Actin-bundling proteins that regulate lamellipodium protrusion dynamics.Comparison of long noncoding RNA and mRNA expression profiles in mesenchymal stem cells derived from human periodontal ligament and bone marrow.Joint aging and chondrocyte cell death.Filamin A- and formin 2-dependent endocytosis regulates proliferation via the canonical Wnt pathway.Characterization of two ENU-induced mutations affecting mouse skeletal morphology.Differential expression of the Toll-like receptor pathway and related genes of chicken bursa after experimental infection with infectious bursa disease virus.Atelosteogenesis type I: autopsy findings.FilaminA and Formin2 regulate skeletal, muscular, and intestinal formation through mesenchymal progenitor proliferation.Varicose and cheerio collaborate with pebble to mediate semaphorin-1a reverse signaling in Drosophila.Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach.Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading.Genetic association of ARHGAP21 gene variant with mandibular prognathism.Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings.

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Filamin B mutations cause chondrocyte defects in skeletal development

http://www.wikidata.org/entity/Q28302896

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2007 nî lūn-bûn

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2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2007年の論文

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2007年学术文章

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name

Filamin B mutations cause chondrocyte defects in skeletal development

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Filamin B mutations cause chondrocyte defects in skeletal development

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Filamin B mutations cause chondrocyte defects in skeletal development

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type

label

Filamin B mutations cause chondrocyte defects in skeletal development

@ast

Filamin B mutations cause chondrocyte defects in skeletal development

@en

Filamin B mutations cause chondrocyte defects in skeletal development

@nl

prefLabel

Filamin B mutations cause chondrocyte defects in skeletal development

@ast

Filamin B mutations cause chondrocyte defects in skeletal development

@en

Filamin B mutations cause chondrocyte defects in skeletal development

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Human Molecular Genetics

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Filamin B mutations cause chondrocyte defects in skeletal development

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Alec De Grand

http://www.w3.org/2001/XMLSchema#string

Christopher Walsh

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Gewei Lian

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Marina Stasenko

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R Roy Vaid

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Volney Sheen

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P2860

The small GTPase RalA targets filamin to induce filopodia

Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Cytoskeletal protein ABP-280 directs the intracellular trafficking of furin and modulates proprotein processing in the endocytic pathway

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits

Mutations in FLNB cause boomerang dysplasia

Perlecan maintains the integrity of cartilage and some basement membranes

Integrins: bidirectional, allosteric signaling machines

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2465187

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10.1093/HMG/DDM114

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14

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16

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Robert E. Lenkinski

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6322692

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17510210

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