A base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta

No abstract is available for this paper.

• Publication year

  1994

• Venue

  Human Genetics

• Publication date

  1994-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/BF00201570PMID 8005592
• 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 de Novo G to T Transversion in a Prod ( 1 ) Collagen Gene for a Moderate Case of Osteogenesis Irnperfecta

  2001cited by this paper
• A de novo G+1 → a mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI Type IV proband

  1993cited by this paper
• Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

  1993cited by this paper
• Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.

  1993cited by this paper
• Deletion of 19 base pairs in intron 13 of the gene for the proα2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta

  1993cited by this paper
• Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta.

  1993cited by this paper
• An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.

  1993cited by this paper
• Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers–Danlos syndrome type IV

  1993cited by this paper
• A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.

  1992cited by this paper
• The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: Exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele

  1992cited by this paper
• The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

  1992cited by this paper
• Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine α1(I) 901 substitution in a type-I collagen gene

  1992cited by this paper
• G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.

  1991cited by this paper
• A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

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

  1991cited by this paper
• Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

  1991cited by this paper
• Osteogenesis imperfecta: translation of mutation to phenotype.

  1991cited by this paper
• A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.

  1991cited by this paper
• Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate.

  1990cited by this paper
• Osteogenesis Imperfecta Type IV

  1990cited by this paper
• An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

  1990cited by this paper
• Anomalous cysteine in type I collagen. Localisation by chemical cleavage of the protein using 2-nitro-5-thiocyanobenzoic acid and by mismatch analysis of cDNA heteroduplexes.

  1990cited by this paper
• Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.

  1990cited by this paper
• Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation.

  1988cited by this paper
• Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.

  1988cited by this paper
• Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

  1988cited by this paper
• A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.

  1988cited by this paper
• A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-proteinase.

  1984cited by this paper
• Genetic heterogeneity in osteogenesis imperfecta.

  1979cited by this paper

• Human genes for dental anomalies.

  2008cites this paper
• Defects of type I procollagen metabolism correlated with decrease of prolidase activity in a case of lethal osteogenesis imperfecta.

  2001cites this paper
• Chemical cleavage of mismatch: A new look at an established method

  1998cites this paper
• Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.

  1998cites this paper
• An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta.

  1998cites this paper
• Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability.

  1997cites this paper
• Osteochondrodysplasias, dysostoses, disorders of calcium metabolism, congenital malformations with skeletal involvement mapped on human chromosomes

  1997cites this paper
• Multiexon Deletions in the Type I Collagen COL1A2 Gene in Osteogenesis Imperfecta Type

  1996cites this paper
• Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.

  1996cites this paper
• Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping

  1996cites this paper
• Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta

  1996cites this paper
• Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis.

  1996cites this paper