valine has been researched along with Osteogenesis Imperfecta in 11 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (9.09) | 18.7374 |
| 1990's | 8 (72.73) | 18.2507 |
| 2000's | 2 (18.18) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Klein, TE; Mooney, SD | 1 |
| Coucke, PJ; De Paepe, A; Legius, E; Malfait, F; Nuytinck, L; Symoens, S | 1 |
| Dalgleish, R; Lund, AM; Mackay, K; Raghunath, M; Steinmann, B | 1 |
| Antoniazzi, F; Cetta, G; Mottes, M; Pignatti, P; Stanzial, F; Tenni, R; Valli, M; Zolezzi, F | 1 |
| Glorieux, FH; Roughley, PJ; Sztrolovics, R; van der Rest, M | 1 |
| Byers, PH; Dalgleish, R; Molyneux, K; Starman, BJ | 1 |
| Bateman, JF; Chan, D; Chow, CW; Cole, WG; Rogers, JG | 1 |
| Bonaventure, J; Cohen-Solal, L; Lasselin, C; Maroteaux, P | 1 |
| Bonadio, J; Campbell, PE; Cole, WG; Fortune, DW; Patterson, E | 1 |
| Bateman, JF; Chan, D; Cole, WG; Hannagan, M | 1 |
| Bateman, J; Chan, D; Cole, W; Lamande, S; Mascara, T; Rogers, J | 1 |
11 other study(ies) available for valine and Osteogenesis Imperfecta
| Article | Year |
|---|---|
Structural models of osteogenesis imperfecta-associated variants in the COL1A1 gene.
Topics: Collagen Type I; Collagen Type I, alpha 1 Chain; Computer Simulation; Cysteine; Humans; Hydrogen Bonding; Models, Molecular; Mutation; Osteogenesis Imperfecta; Protein Structure, Tertiary; Serine; Valine | 2002 |
Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype.
Topics: Alleles; Alternative Splicing; Amino Acid Substitution; Base Sequence; Child; Collagen; Collagen Type I; Collagen Type I, alpha 1 Chain; Conserved Sequence; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Methionine; Molecular Sequence Data; Osteogenesis Imperfecta; Peptide Fragments; Phenotype; Procollagen; Protein Precursors; RNA, Messenger; Skin; Valine | 2004 |
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
Topics: Base Sequence; DNA Mutational Analysis; DNA, Single-Stranded; Electrophoresis, Polyacrylamide Gel; Glycine; Humans; Infant, Newborn; Male; Molecular Sequence Data; Osteogenesis Imperfecta; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Procollagen; Repetitive Sequences, Nucleic Acid; Restriction Mapping; Valine | 1993 |
Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.
Topics: Adult; Base Sequence; Chymotrypsin; Collagen; Drug Stability; Endopeptidases; Glycine; Hot Temperature; Humans; Male; Molecular Sequence Data; Osteogenesis Imperfecta; Pepsin A; Point Mutation; Polymerase Chain Reaction; Procollagen; Trypsin; Valine | 1993 |
Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.
Topics: Amino Acid Sequence; Base Sequence; Cell Line; Codon; Collagen; Female; Fibroblasts; Glycine; Humans; Infant, Newborn; Male; Molecular Sequence Data; Nucleic Acid Heteroduplexes; Osteogenesis Imperfecta; Point Mutation; RNA, Messenger; Serine; Skin; Valine | 1993 |
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.
Topics: Base Sequence; Collagen; DNA Mutational Analysis; Female; Gene Deletion; Genes, Dominant; Humans; Infant, Newborn; Molecular Sequence Data; Osteogenesis Imperfecta; Polymerase Chain Reaction; RNA Splicing; Valine | 1993 |
Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.
Topics: Adolescent; Adult; Arm; Bone and Bones; Child, Preschool; Collagen; Female; Glycine; Growth Plate; Humans; Infant, Newborn; Male; Mutation; Osteogenesis Imperfecta; Pregnancy; Radiography; Thorax; Valine | 1996 |
A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.
Topics: Alleles; Base Sequence; Collagen; Collagen Type I, alpha 1 Chain; Female; Genes, Dominant; Genetic Carrier Screening; Glycine; Humans; Male; Molecular Sequence Data; Mosaicism; Mutation; Nucleic Acid Hybridization; Osteogenesis Imperfecta; Valine | 1992 |
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
Topics: Adult; Amino Acid Sequence; Female; Fetus; Glycine; Humans; Infant, Newborn; Male; Molecular Sequence Data; Mutation; Osteogenesis Imperfecta; Phenotype; Procollagen; Radiography; Valine | 1992 |
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
Topics: Amino Acid Sequence; Base Sequence; Cells, Cultured; Child; Chorionic Villi; Collagen; Female; Glycine; Hot Temperature; Humans; Molecular Sequence Data; Mutation; Nucleic Acid Heteroduplexes; Osteogenesis Imperfecta; Pregnancy; Prenatal Diagnosis; Protein Denaturation; RNA, Messenger; Valine | 1991 |
Correlation of clinical and molecular biological abnormalities in osteogenesis imperfecta.
Topics: Alanine; Arginine; Genotype; Glycine; Humans; Infant; Mutation; Osteogenesis Imperfecta; Phenotype; Valine | 1989 |