Condition: Osteogenesis imperfecta type III (disorder)


rs1114167388 in COL1A1 gene and Osteogenesis imperfecta type III (disorder) PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 2511192 1989 Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific.

PMID 1770532 1991 Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.

PMID 18670065 2008 Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.

PMID 7691343 1993 An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.

PMID 2037280 1991 Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

PMID 2794057 1989 Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.

PMID 7881420 1994 Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

PMID 8456809 1993 Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.

PMID 8019571 1994 Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.

PMID 10408781 1999 Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 8669434 1996 Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.

PMID 8364588 1993 Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.

PMID 9101304 1997 Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.

PMID 8723681 1996 Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.

PMID 18670065 2008 The second mutation changed glycine 1040 to serine located at the border of D4 and D0.4, in a proband manifesting OI type III, and lowered collagen stability at 39 degrees C (2 degrees C lower than normal).

rs1114167412 in COL1A2 gene and Osteogenesis imperfecta type III (disorder) PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 8800927 1996 Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

PMID 7520724 1994 Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.

PMID 7749416 1995 A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

PMID 1990009 1991 The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.

PMID 7881420 1994 Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

PMID 8723681 1996 Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.

PMID 8081394 1994 A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.

PMID 10408781 1999 Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 7860070 1995 A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

PMID 7720740 1995 Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation.

PMID 8444468 1993 A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

PMID 8829649 1996 Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

PMID 8456807 1993 Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.