aspartic acid has been researched along with Osteogenesis Imperfecta in 10 studies
Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.
Osteogenesis Imperfecta: COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We identified two infants with lethal (type II) osteogenesis imperfecta (OI) who were heterozygous for mutations in the COL1A1 gene that resulted in substitutions of aspartic acid for glycine at position 220 and arginine for glycine at position 664 in the product of one COL1A1 allele in each individual." | 7.69 | Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystall ( Atkinson, M; Byers, PH; Culbert, AA; Kadler, KE; Lowe, MP; Wallis, GA, 1995) |
| "Studies on type I procollagen produced by skin fibroblasts cultured from twins with lethal type II of osteogenesis imperfecta (OI) showed that biosynthesis of collagen (measured by L-[5-(3)H]proline incorporation into proteins susceptible to the action of bacterial collagenase) was slightly increased as compared to the control healthy infant." | 3.72 | Studies on type I collagen in skin fibroblasts cultured from twins with lethal osteogenesis imperfecta. ( Galicka, A; Gindzieński, A; Wołczyński, S, 2003) |
| "We identified two infants with lethal (type II) osteogenesis imperfecta (OI) who were heterozygous for mutations in the COL1A1 gene that resulted in substitutions of aspartic acid for glycine at position 220 and arginine for glycine at position 664 in the product of one COL1A1 allele in each individual." | 3.69 | Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystall ( Atkinson, M; Byers, PH; Culbert, AA; Kadler, KE; Lowe, MP; Wallis, GA, 1995) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (10.00) | 18.7374 |
| 1990's | 7 (70.00) | 18.2507 |
| 2000's | 2 (20.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Galicka, A | 1 |
| Wołczyński, S | 1 |
| Gindzieński, A | 1 |
| Culbert, AA | 1 |
| Lowe, MP | 1 |
| Atkinson, M | 2 |
| Byers, PH | 4 |
| Wallis, GA | 1 |
| Kadler, KE | 2 |
| Cohen-Solal, L | 1 |
| Zylberberg, L | 1 |
| Sangalli, A | 1 |
| Gomez Lira, M | 1 |
| Mottes, M | 1 |
| Lund, AM | 1 |
| Schwartz, M | 1 |
| Raghunath, M | 1 |
| Steinmann, B | 1 |
| Skovby, F | 1 |
| Forlino, A | 1 |
| Keene, DR | 1 |
| Schmidt, K | 1 |
| Marini, JC | 1 |
| Pace, JM | 1 |
| Chitayat, D | 1 |
| Wilcox, WR | 1 |
| Schwarze, U | 1 |
| Niyibizi, C | 1 |
| Bonadio, J | 1 |
| Eyre, DR | 1 |
| Lightfoot, SJ | 1 |
| Holmes, DF | 1 |
| Brass, A | 1 |
| Grant, ME | 1 |
| Zhuang, JP | 1 |
| Constantinou, CD | 2 |
| Ganguly, A | 1 |
| Prockop, DJ | 2 |
| Baldwin, CT | 1 |
| Dumars, KW | 1 |
10 other studies available for aspartic acid and Osteogenesis Imperfecta