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Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese womenFilamin B mutations cause chondrocyte defects in skeletal developmentF-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domainFilamin B represses chondrocyte hypertrophy in a Runx2/Smad3-dependent manner.Structural and functional evaluation of C. elegans filamins FLN-1 and FLN-2.Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plateDisease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.A molecular and clinical study of Larsen syndrome caused by mutations in FLNBConditional testing of multiple variants associated with bone mineral density in the FLNB gene region suggests that they represent a single association signal.Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyFilamin B regulates chondrocyte proliferation and differentiation through Cdk1 signalingFilamin B deficiency in mice results in skeletal malformations and impaired microvascular developmentPhenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patientsMutations responsible for Larsen syndrome cluster in the FLNB protein.Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndromeASB2α, an E3 ubiquitin ligase specificity subunit, regulates cell spreading and triggers proteasomal degradation of filamins by targeting the filamin calponin homology 1 domainIdentification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.Identification of quantitative trait transcripts for growth traits in the large scales of liver and muscle samples.Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.Atelosteogenesis type I: autopsy findings.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.A Case of Boomerang Dysplasia with a Novel Causative Mutation in Filamin B: Identification of Typical Imaging Findings on Ultrasonography and 3D-CT Imaging
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutations in FLNB cause boomerang dysplasia
@ast
Mutations in FLNB cause boomerang dysplasia
@en
Mutations in FLNB cause boomerang dysplasia
@nl
type
label
Mutations in FLNB cause boomerang dysplasia
@ast
Mutations in FLNB cause boomerang dysplasia
@en
Mutations in FLNB cause boomerang dysplasia
@nl
prefLabel
Mutations in FLNB cause boomerang dysplasia
@ast
Mutations in FLNB cause boomerang dysplasia
@en
Mutations in FLNB cause boomerang dysplasia
@nl
P2093
P3181
P356
P1476
Mutations in FLNB cause boomerang dysplasia
@en
P2093
L S Bicknell
M G Bialer
M W Wessels
P J Willems
S P Robertson
P3181
P356
10.1136/JMG.2004.029967
P407
P577
2005-07-01T00:00:00Z