Mutation 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-ophthalmopathy)

No abstract is available for this paper.

• Publication year

  1993

• Venue

  American Journal of Human Genetics

• Publication date

  1993-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 8317498PMCID PMC1682228
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

  1993cited by this paper
• A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.

  1993cited by this paper
• Variability of Stickler syndrome.

  1992cited by this paper
• Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

  1992cited by this paper
• Genomic organization of the human procollagen alpha 1(II) collagen gene.

  1991cited by this paper
• Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.

  1991cited by this paper
• Mutations in collagen genes: causes of rare and some common diseases in humans

  1991cited by this paper
• Genomic organization of the human procollagen α1 (II) collagen gene

  1991cited by this paper
• Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

  1991cited by this paper
• Brittle bones--fragile molecules: disorders of collagen gene structure and expression.

  1990cited by this paper
• Optimal conditions for directly sequencing double-stranded PCR products with sequenase

  1990cited by this paper
• Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

  1990cited by this paper
• Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

  1990cited by this paper
• Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes.

  1990cited by this paper
• Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

  1990cited by this paper
• Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth.

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• Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

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• Stickler's syndrome.

  1989cited by this paper
• Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens.

  1989cited by this paper
• Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.

  1989cited by this paper
• Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

  1989cited by this paper
• Mutations that alter the primary structure of type I procollagen have long-range effects on its cleavage by procollagen N-proteinase.

  1989cited by this paper
• Structural analyses of the polymorphic area in type II collagen gene

  1989cited by this paper
• Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.

  1989cited by this paper
• The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

  1987cited by this paper
• Detection and localization of single base changes by denaturing gradient gel electrophoresis.

  1987cited by this paper
• Identification and characterization of the human type II collagen gene (COL2A1).

  1985cited by this paper
• Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

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• INHERITED RETINAL DETACHMENT

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• Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

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• Vitreoretinal degeneration as a sign of generalized connective tissue diseases.

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• Hereditary progressive arthro-ophthalmopathy of Stickler.

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• DNA sequencing with chain-terminating inhibitors.

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• HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

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• HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

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• Inherited retinal detachment.

  1963cited by this paper

• A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.

  2024cites this paper
• A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I

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• Pathology of the Retina and Vitreous

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• S

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• Stickler Syndrome.

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• Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

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• Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?

  2018cites this paper
• Determinants of multi-scale patterning in growth plate cartilage

  2018cites this paper
• The triple helix of collagens – an ancient protein structure that enabled animal multicellularity and tissue evolution

  2018cites this paper
• Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways

  2017cites this paper
• Collagen Mutant Mouse Models Provide an Important Tool to Study Osteoarthritis

  2016cites this paper
• Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies

  2016cites this paper
• Estudo das mutações no gene COL2A1 em uma coorte de pacientes com displasias esqueléticas do grupo colagenopatia tipo II segundo critérios clínico-radiológicos

  2014cites this paper
• The Mouse MC13 Mutant Is a Novel ENU Mutation in Collagen Type II, Alpha 1

  2014cites this paper
• Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes

  2013cites this paper
• Hearing impairment in Stickler syndrome: a systematic review

  2012cites this paper
• Analogies for Teaching Mutant Allele Dominance Concepts

  2012cites this paper
• Clinical phenotypes associated with type II collagen mutations

  2012cites this paper
• Are we doing enough for the patient with myopia? A literature review

  2011cites this paper
• Skeletal and Connective Tissue Disorders with Anterior Segment Manifestations

  2011cites this paper
• Identification of the COL2A1 Mutation in Patients with Type I Stickler Syndrome Using RNA from Freshly Isolated Peripheral White Blood Cells

  2011cites this paper
• Pediatric Rhegmatogenous Retinal Detachment

  2011cites this paper
• Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

  2010cites this paper
• Missense and nonsense mutations in the alternatively‐spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

  2008cites this paper
• Wagner syndrome Clinical characterisation and molecular analysis of

  2008cites this paper
• The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies

  2008cites this paper
• Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms

  2007cites this paper
• Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2

  2007cites this paper
• Clinical characterisation and molecular analysis of Wagner syndrome

  2006cites this paper
• Disorders of the Vitreous and Vitreoretinal Interface

  2006cites this paper
• High efficiency of mutation detection in type 1 stickler syndrome using a two‐stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

  2006cites this paper
• Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

  2005cites this paper
• GENETIC DEFECTS OF COLLAGEN XI

  2005cites this paper
• A molecular study of the signals that control Schwann cell development and myelination in vivo

  2005cites this paper
• Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.

  2005cites this paper
• GENETIC DEFECTS OF COLLAGEN XI

  2005cites this paper
• Extending the nosology of the chondrodysplasias to the cellular and molecular levels

  2005cites this paper
• Genetik-Diplom aus Sicht der Augenheilkunde

  2004cites this paper
• The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission

  2004cites this paper
• Collagens and collagen-related matrix components in the human and mouse eye.

  2004cites this paper
• A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

  2003cites this paper
• Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.

  2003cites this paper
• Hearing impairment in Stickler syndrome.

  2002cites this paper
• Cataract and hearing loss in a population-based study: the Beaver Dam studies.

  2001cites this paper
• Identification of a novel common genetic risk factor for lumbar disk disease.

  2001cites this paper
• Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

  2000cites this paper
• Stomatologische Erkrankungen und Defekte

  2000cites this paper
• COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

  2000cites this paper
• 4.3 Genetic and Metabolic Aspects

  1999cites this paper
• From rare syndromes to a common disease : mutations in minor cartilage collagen genes cause Marshall and Stickler syndromes and intervertebral disc disease

  1999cites this paper
• Genetic and Metabolic Aspects

  1999cites this paper
• Clinical and molecular genetics of Stickler syndrome

  1999cites this paper
• Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

  1999cites this paper
• Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.

  1998cites this paper
• Genetics and hearing loss: a review of Stickler syndrome.

  1998cites this paper
• Correlation of linkage data with phenotype in eight families with Stickler syndrome.

  1998cites this paper
• Summary of ocular genetic disorders and inherited systemic conditions with eye findings.

  1998cites this paper
• Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: A new syndrome?

  1998cites this paper
• Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.

  1998cites this paper
• Marshall-Stickler phenotype associated with von Willebrand disease.

  1997cites this paper
• A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.

  1996cites this paper
• Ocular Abnormalities in Transgenic Mice Harboring Mutations in the Type Ii Collagen Gene

  1996cites this paper
• Skeletal dysplasias detectable by DNA analysis

  1996cites this paper
• Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).

  1996cites this paper
• Hereditary vitreopathy

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• Lexikon der Syndrome und Fehlbildungen

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• Extracellular matrix 1: Fibril-forming collagens.

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• Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.

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  1995cites this paper
• The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission

  1995cites this paper
• Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

  1995cites this paper
• Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.

  1995cites this paper
• Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.

  1995cites this paper
• Chondrocyte differentiation.

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• An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

  1995cites this paper
• Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

  1994cites this paper
• A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1‐247 to serine in a family with late‐onset spondyloepiphyseal dysplasia

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• Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.

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• A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.

  1994cites this paper
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• Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

  1994cites this paper
• A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

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