|
Atelosteogenesis, type 1
|
0.760 |
Biomarker
|
disease |
BEFREE |
FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities.
|
28739045 |
2017 |
|
Atelosteogenesis, type 1
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.
|
24624349 |
2014 |
|
Atelosteogenesis, type 1
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We present two patients with Atelosteogenesis Type I (AO type I) caused by two novel Filamin B (FLNB) mutations affecting the same FLNB residue: c.542G > A, predicting p.Gly181Asp and c.542G > C, predicting p.Gly181Arg.
|
23401428 |
2013 |
|
Atelosteogenesis, type 1
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
This study characterises the wild type FLNB ABD and investigates the effects of two disease-associated mutations on the structure and function of the FLNB ABD that could explain a gain-of-function mechanism for the AO diseases.
|
19505475 |
2009 |
|
Atelosteogenesis, type 1
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Mutations in filamin B (FLNB), a gene encoding a cytoplasmic actin-binding protein, have been found in human skeletal disorders, including boomerang dysplasia, spondylocarpotarsal syndrome, Larsen syndrome, and atelosteogenesis phenotypes I and III.
|
17360453 |
2007 |
|
Atelosteogenesis, type 1
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
These results show that clustering of mutations in two regions of FLNB produce AOI/AOIII, and highlight the important role of this cytoskeletal protein in normal skeletogenesis.
|
16752402 |
2006 |
|
Atelosteogenesis, type 1
|
0.760 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
|
14991055 |
2004 |
|
Atelosteogenesis, type 1
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
|
14991055 |
2004 |
|
Atelosteogenesis, type 1
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
|
14991055 |
2004 |
|
Atelosteogenesis, type 1
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Atelosteogenesis, type 1
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|