Constantinos D. Constantinou

An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy

Nicholas Sharp, Joe N. Kornegay, Stëvên D. Van Camp et al. · Genomics · 1992 · 353 citations

Life Sciences, Genetics, Molecular Biology +12

Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.

Loretta D. Spotila, Constantinos D. Constantinou, Larisa Sereda et al. · Proceedings of the National Academy of Sciences · 1991 · 148 citations

Medicine, Genetics, Molecular Genetics +17

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.

Constantinos D. Constantinou, Kristopher Nielsen, Darwin J. Prockop · Journal of Clinical Investigation · 1989 · 62 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Structure of cDNAs Encoding the Triple-Helical Domain of Murine α2 (VI) Collagen Chain and Comparison to Human and Chick Homologues. Use of Polymerase Chain Reaction and Partially Degenerate Oligonucleotides for Generation of Novel cDNA Clones

Constantinos D. Constantinou, Sergio A. Jiménez · Matrix · 1991 · 56 citations

Life Sciences, Genetics, Molecular Biology +14

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).

Constantinos D. Constantinou, M Pack, S. B. YOUNG et al. · PubMed · 1990 · 53 citations

Medicine, Genetics, Molecular Genetics +15