A molecular and clinical study of Larsen syndrome caused by mutations in FLNB - Wikidata - awgldk - TriplyDB

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

http://www.wikidata.org/entity/Q34568647

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Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women Evidence for the mechanosensor function of filamin in tissue development.Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing.Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.Conditional 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 signaling Chondrodysplasia 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.Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene Filamin C-related myopathies: pathology and mechanisms.Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography.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.GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.Atelosteogenesis type I: autopsy findings.Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach.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.Myofibrillar instability exacerbated by acute exercise in filaminopathy.Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.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 Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

http://www.wikidata.org/entity/Q34568647

description

2006 nî lūn-bûn

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2006 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2006 թվականի հունիսին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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type

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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prefLabel

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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Journal of Medical Genetics

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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Alan Fryer

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Chong Ae Kim

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Claire Farrington-Rock

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Daniel H Cohn

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David L Rimoin

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Deborah Krakow

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Elizabeth Sweeney

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Ellen Moran

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Helen Firth

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Jean-Pierre Fryns

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P2860

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha

Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits

Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus

Mutations in FLNB cause boomerang dysplasia

Interaction of presenilins with the filamin family of actin-binding proteins

The limits of promiscuity: isoform-specific dimerization of filamins

Filamins as integrators of cell mechanics and signalling

Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm

A new member of the LIM protein family binds to filamin B and localizes at stress fibers

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10.1136/JMG.2006.043687

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