Page last updated: 2024-11-08
serine and Dysostoses
serine has been researched along with Dysostoses in 1 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
Dysostoses: Defective bone formation involving individual bones, singly or in combination.
Research Excerpts
| Excerpt | Relevance | Reference |
|---|---|---|
| "Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones." | 1.46 | Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. ( Bertsche, A; Gesing, J; Hirsch, FW; Hoppmann, J; Kiess, W; Leroy, C; Pfäffle, R; Schuster, V; Silve, C, 2017) |
Research
Studies (1)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
Authors
| Authors | Studies |
|---|---|
| Hoppmann, J | 1 |
| Gesing, J | 1 |
| Silve, C | 1 |
| Leroy, C | 1 |
| Bertsche, A | 1 |
| Hirsch, FW | 1 |
| Kiess, W | 1 |
| Pfäffle, R | 1 |
| Schuster, V | 1 |
Other Studies
1 other study available for serine and Dysostoses
| Article | Year |
|---|---|
Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.
Topics: Adult; Amino Acid Substitution; Child, Preschool; Cyclic AMP-Dependent Protein Kinases; Cyclic Nucle | 2017 |