serine has been researched along with Chondrodystrophic Myotonia in 6 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.
| 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) |
| "The features of a child with spondyloepiphyseal dysplasia congenita resulting from a mutation in one COL2A1 allele were studied." | 1.29 | The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. ( Cole, WG; Hall, RK; Rogers, JG, 1993) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (16.67) | 18.7374 |
| 1990's | 3 (50.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 2 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| 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 |
| Hinrichs, T | 1 |
| Superti-Furga, A | 1 |
| Scheiderer, WD | 1 |
| Bonafé, L | 1 |
| Brenner, RE | 1 |
| Mattes, T | 1 |
| Ritvaniemi, P | 1 |
| Sokolov, BP | 1 |
| Williams, CJ | 1 |
| Considine, E | 1 |
| Yurgenev, L | 1 |
| Meerson, EM | 1 |
| Ala-Kokko, L | 1 |
| Prockop, DJ | 1 |
| Cole, WG | 2 |
| Hall, RK | 1 |
| Rogers, JG | 1 |
| McBride-Warren, PA | 1 |
| McCutcheon, JS | 1 |
| Brown, RG | 1 |
| Chan, D | 1 |
6 other studies available for serine and Chondrodystrophic Myotonia