Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome
about
Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from ScandinaviaCommon variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese womenEvidence for the mechanosensor function of filamin in tissue development.Filamin and phospholipase C-ε are required for calcium signaling in the Caenorhabditis elegans spermathecaAtomic Structures of Two Novel Immunoglobulin-like Domain Pairs in the Actin Cross-linking Protein FilaminWhole-genome sequence analyses of Western Central African Pygmy hunter-gatherers reveal a complex demographic history and identify candidate genes under positive natural selectionFilamin 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 plateDisease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.Filamin B regulates chondrocyte proliferation and differentiation through Cdk1 signalingTGFβ 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 patientsA postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.Characterization of two ENU-induced mutations affecting mouse skeletal morphology.Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis.Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading.Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.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.Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.Organ-wide profiling in mouse reveals high editing levels of Filamin B mRNA in the musculoskeletal system
P2860
Q21091121-725720CA-F30C-4220-A00C-09906417AC6BQ24599843-545BF007-F13D-413D-9C4A-0D0525E4EAA1Q27312558-F1445EED-7A6A-4BA8-9DA4-3F23085C8857Q27322806-ED3C7051-2B25-4CEA-AC12-ED16E5CCA4AFQ27656592-AE6B22CD-B64E-4F5A-82CD-EB4C52F727AEQ28603568-29B9BCE8-A727-41A1-94CE-869F6BE5A089Q30494138-98D18C3B-A823-4C75-9836-A1FB37C929F4Q33900830-B62BF36C-3B35-436F-9DA3-002D406B9D9DQ33991787-6E71A59A-12A4-404F-9844-B9858EC62D7FQ34108318-B21FE773-CFF6-4DE3-BA90-CE944F2616BAQ35097777-68C55ADA-3CF3-476F-9533-403F5C38D571Q35971562-43DC0C02-BD7A-456F-95E9-D9A48C616BAFQ35980440-92144029-502B-420B-BE2E-FA489D514F8CQ37644369-92BA2879-9B70-4FE7-A33E-F1D2A06A827CQ42517953-BDBBDF96-839C-4B1E-B5BE-7E2F399C63E7Q42958302-1B212740-3CFB-4EC8-B6E0-457A150AEC59Q47133669-6A6B5BB2-5775-4605-8993-786EE42C247CQ50456908-EFCF09A5-F47D-4CD1-AABD-E815C6E07742Q51126231-D689D9C8-C151-48AA-83B0-A238B4821F73Q51158820-6C9D89F9-3FD6-4D2D-9CB3-8E972EB916AFQ51652594-37794553-C508-4D32-A7B2-D4F6870E6CE0Q55689447-B5C5E7F3-4E9B-4082-BEB5-2E3F8500B966Q57295982-9F1BD356-D9D9-4AF6-AD9B-F240A87A0EC5
P2860
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 17 July 2007
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Disruption of the Flnb gene in ...... arpotarsal synostosis syndrome
@en
Disruption of the Flnb gene in ...... rpotarsal synostosis syndrome.
@nl
type
label
Disruption of the Flnb gene in ...... arpotarsal synostosis syndrome
@en
Disruption of the Flnb gene in ...... rpotarsal synostosis syndrome.
@nl
prefLabel
Disruption of the Flnb gene in ...... arpotarsal synostosis syndrome
@en
Disruption of the Flnb gene in ...... rpotarsal synostosis syndrome.
@nl
P2093
P2860
P356
P1476
Disruption of the Flnb gene in ...... arpotarsal synostosis syndrome
@en
P2093
Alexander D Borowsky
Claire Farrington-Rock
Daniel H Cohn
Deborah Krakow
Lisa Dillard-Telm
Matthew J Rock
Sara Chalk
Veneta Kirilova
P2860
P304
P356
10.1093/HMG/DDM188
P577
2007-07-17T00:00:00Z