Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
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Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from ScandinaviaStructure of three tandem filamin domains reveals auto-inhibition of ligand bindingCommon variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese womenMolecular Basis of Filamin A-FilGAP Interaction and Its Impairment in Congenital Disorders Associated with Filamin A MutationsSkeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disordersA novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasiaFilamin B mutations cause chondrocyte defects in skeletal developmentMice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling PathwayFilamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesisWhole-genome sequence analyses of Western Central African Pygmy hunter-gatherers reveal a complex demographic history and identify candidate genes under positive natural selectionMechanical dynamics in live cells and fluorescence-based force/tension sensorsF-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domainFilamin structure, function and mechanics: are altered filamin-mediated force responses associated with human disease?Filamin B represses chondrocyte hypertrophy in a Runx2/Smad3-dependent manner.Mononuclear muscle cells in Drosophila ovaries revealed by GFP protein trapsFilamin B plays a key role in vascular endothelial growth factor-induced endothelial cell motility through its interaction with Rac-1 and Vav-2.Filamins in mechanosensing and signaling.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).A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndromeA molecular and clinical study of Larsen syndrome caused by mutations in FLNBA systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation.Peeling off the hidden genetic heterogeneities of cancers based on disease-relevant functional modules.The filamins: organizers of cell structure and functionConditional 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 signalingThe E3 ubiquitin ligase specificity subunit ASB2α targets filamins for proteasomal degradation by interacting with the filamin actin-binding domainChondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.The management of knee dislocation in a child with Larsen syndrome.Binding of pro-prion to filamin A: by design or an unfortunate blunderCytoskeletal proteins in cortical development and disease: actin associated proteins in periventricular heterotopia.Filamin B deficiency in mice results in skeletal malformations and impaired microvascular developmentTGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patientsRegulation of chondrocyte differentiation by actin-severing protein adseverinPeriventricular heterotopia: new insights into Ehlers-Danlos syndromeReal-time and 3-dimensional sonographic diagnosis of postural congenital genu recurvatum.
P2860
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P2860
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Mutations in the gene encoding ...... formation and skeletogenesis.
@en
Mutations in the gene encoding ...... formation and skeletogenesis.
@nl
type
label
Mutations in the gene encoding ...... formation and skeletogenesis.
@en
Mutations in the gene encoding ...... formation and skeletogenesis.
@nl
prefLabel
Mutations in the gene encoding ...... formation and skeletogenesis.
@en
Mutations in the gene encoding ...... formation and skeletogenesis.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in the gene encoding ...... formation and skeletogenesis.
@en
P2093
Andrea Superti-Furga
Arthur Grix
Carlos A Bacino
Carlos E Steiner
Cristina Bertolotto
Daniel H Cohn
David L Rimoin
Deborah Krakow
Dora Acuna
Eiman T Sebald
P2860
P2888
P304
P356
10.1038/NG1319
P407
P577
2004-02-29T00:00:00Z