Premature arthritis is a distinct type II collagen phenotype. - Wikidata - awgldk - TriplyDB

Premature arthritis is a distinct type II collagen phenotype.

Premature arthritis is a distinct type II collagen phenotype.

http://www.wikidata.org/entity/Q37687244

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Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report.A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis.Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.Role of proopiomelanocortin-derived peptides and their receptors in the osteoarticular system: from basic to translational research.A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity Gene expression profile analysis of human intervertebral disc degeneration.Clinical phenotypes associated with type II collagen mutations.The collagenopathies: review of clinical phenotypes and molecular correlations.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

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Premature arthritis is a distinct type II collagen phenotype.

http://www.wikidata.org/entity/Q37687244

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on May 2010

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Premature arthritis is a distinct type II collagen phenotype.

@en

Premature arthritis is a distinct type II collagen phenotype.

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type

label

Premature arthritis is a distinct type II collagen phenotype.

@en

Premature arthritis is a distinct type II collagen phenotype.

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prefLabel

Premature arthritis is a distinct type II collagen phenotype.

@en

Premature arthritis is a distinct type II collagen phenotype.

@nl

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Arthritis and Rheumatism

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Premature arthritis is a distinct type II collagen phenotype

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Desiree du Sart

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Peter Kannu

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Ravi Savarirayan

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Shannon Cowie

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Shaun McGrath

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Susan Randle

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P2860

A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage

Inactivation of one allele of the type II collagen gene alters the collagen network in murine articular cartilage and makes cartilage softer

Amino acid difference formula to help explain protein evolution

Small deletions in the type II collagen triple helix produce Kniest dysplasia

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.

Damage to type II collagen in aging and osteoarthritis starts at the articular surface, originates around chondrocytes, and extends into the cartilage with progressive degeneration

Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

Cleavage of type II collagen by cathepsin K in human osteoarthritic cartilage.

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis.

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1421-1430

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scholarly article

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10.1002/ART.27354

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5

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62

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John F. Bateman

Matthew Edwards

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2010-05-01T00:00:00Z

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41406157

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20131279

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