Mutations in two regions of FLNB result in atelosteogenesis I and III.
about
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.Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plateThe importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).Disease-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.Filamin B regulates chondrocyte proliferation and differentiation through Cdk1 signalingPhenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patientsDisruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndromePrenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B geneFilamin C-related myopathies: pathology and mechanisms.Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.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.Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.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.Prenatal sonographic features of fetal atelosteogenesis type 1.Myofibrillar instability exacerbated by acute exercise in filaminopathy.Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.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
Mutations in two regions of FLNB result in atelosteogenesis I and III.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Mutations in two regions of FLNB result in atelosteogenesis I and III.
@en
Mutations in two regions of FLNB result in atelosteogenesis I and III.
@nl
type
label
Mutations in two regions of FLNB result in atelosteogenesis I and III.
@en
Mutations in two regions of FLNB result in atelosteogenesis I and III.
@nl
prefLabel
Mutations in two regions of FLNB result in atelosteogenesis I and III.
@en
Mutations in two regions of FLNB result in atelosteogenesis I and III.
@nl
P2093
P356
P1433
P1476
Mutations in two regions of FLNB result in atelosteogenesis I and III.
@en
P2093
Andrea Superti-Furga
Carlos A Bacino
Claire Farrington-Rock
Clarisse Baumann
Daniel H Cohn
David L Rimoin
Deborah Krakow
Elizabeth Sweeney
Joelle Roume
Joke B G M Verheij
P304
P356
10.1002/HUMU.20348
P577
2006-07-01T00:00:00Z