GDF5 is a second locus for multiple-synostosis syndrome. - Wikidata - awgldk - TriplyDB

GDF5 is a second locus for multiple-synostosis syndrome.

GDF5 is a second locus for multiple-synostosis syndrome.

http://www.wikidata.org/entity/Q34507321

about

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2 New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes Trps1 plays a pivotal role downstream of Gdf5 signaling in promoting chondrogenesis and apoptosis of ATDC5 cells Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1 A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.Growth Differentiation Factor 5-Mediated Enhancement of Chondrocyte Phenotype Is Inhibited by Heparin: Implications for the Use of Heparin in the Clinic and in Tissue Engineering Applications.The Good the Bad and the Ugly of Glycosaminoglycans in Tissue Engineering Applications CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383.Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder Heads, Shoulders, Elbows, Knees, and Toes: Modular Gdf5 Enhancers Control Different Joints in the Vertebrate Skeleton Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.Molecular and clinical delineation of the 17q22 microdeletion phenotype.Mechanisms of digit formation: Human malformation syndromes tell the story.A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).Insights from human genetic studies into the pathways involved in osteoarthritis.BMP signalling in skeletal development, disease and repair.A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome.Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family.Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.Brachydactyly type A2 associated with a defect in proGDF5 processing.Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.Bone Morphogenetic Proteins.Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population.Further delineation of the GDF6 related multiple synostoses syndrome.Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.

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P2860

GDF5 is a second locus for multiple-synostosis syndrome.

http://www.wikidata.org/entity/Q34507321

description

2006 nî lūn-bûn

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2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2006 թվականի փետրվարին 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

GDF5 is a second locus for multiple-synostosis syndrome.

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GDF5 is a second locus for multiple-synostosis syndrome.

@en

GDF5 is a second locus for multiple-synostosis syndrome.

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type

label

GDF5 is a second locus for multiple-synostosis syndrome.

@ast

GDF5 is a second locus for multiple-synostosis syndrome.

@en

GDF5 is a second locus for multiple-synostosis syndrome.

@nl

prefLabel

GDF5 is a second locus for multiple-synostosis syndrome.

@ast

GDF5 is a second locus for multiple-synostosis syndrome.

@en

GDF5 is a second locus for multiple-synostosis syndrome.

@nl

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American Journal of Human Genetics

P1476

GDF5 is a second locus for multiple-synostosis syndrome

@en

P2093

Deborah Krakow

http://www.w3.org/2001/XMLSchema#string

Eiman Sebald

http://www.w3.org/2001/XMLSchema#string

John Williams

http://www.w3.org/2001/XMLSchema#string

Katherine Dawson

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Lily King

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Petra Seeman

http://www.w3.org/2001/XMLSchema#string

Stephan Mundlos

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P2860

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development

Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

P304

708-712

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scholarly article

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10.1086/503204

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P433

4

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P478

78

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Matthew Edwards

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2006-02-24T00:00:00Z

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7246904

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16532400

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1424701

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