Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
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Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseasesVariation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helixMutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceA preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Mutations in NYX of individuals with high myopia, but without night blindnessLinkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8qClinical and Molecular genetics of Stickler syndromeThe role of structural genes in the pathogenesis of osteoarthritic disordersStickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologistAdvances in Skeletal Dysplasia GeneticsHeterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)Expression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient miceMouse homologues of human hereditary disease.Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence.Genetics and osteoarthritis: exposing the iceberg.Genetic aspects of familial osteoarthritisThe clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagenBeginning of a molecular era in hearing and deafness.PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.Extracellular matrix molecules: potential targets in pharmacotherapy.Site-1 protease is required for cartilage development in zebrafish.Congenital and idiopathic scoliosis: clinical and genetic aspects.A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisisPosition effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in jointsThe Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.Looping mediated interaction between the promoter and 3' UTR regulates type II collagen expression in chondrocytes.The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1.High heritability of myopia does not preclude rapid changes in prevalence.Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)Molecular genetics of rhegmatogenous retinal detachment.The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1Chondrogenesis in scleral stem/progenitor cells and its association with form-deprived myopia in mice.A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codonMutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathyCOL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromesDifferential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilageExpression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
P2860
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P2860
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on August 1991
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Stop codon in the procollagen ...... drome (arthro-ophthalmopathy).
@en
Stop codon in the procollagen II gene
@nl
type
label
Stop codon in the procollagen ...... drome (arthro-ophthalmopathy).
@en
Stop codon in the procollagen II gene
@nl
prefLabel
Stop codon in the procollagen ...... drome (arthro-ophthalmopathy).
@en
Stop codon in the procollagen II gene
@nl
P2093
P2860
P356
P1476
Stop codon in the procollagen ...... drome (arthro-ophthalmopathy).
@en
P2093
Ala-Kokko L
Jimenez SA
Knowlton RG
Maguire JI
Prockop DJ
P2860
P304
P356
10.1073/PNAS.88.15.6624
P407
P577
1991-08-01T00:00:00Z