serine has been researched along with Achondroplasia in 2 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.
Achondroplasia: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Mortier, G | 1 |
| Nuytinck, L | 1 |
| Craen, M | 1 |
| Renard, JP | 1 |
| Leroy, JG | 1 |
| de Paepe, A | 1 |
| Chen, L | 1 |
| Li, C | 1 |
| Qiao, W | 1 |
| Xu, X | 1 |
| Deng, C | 1 |
2 other studies available for serine and Achondroplasia
| Article | Year |
|---|---|
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Topics: Achondroplasia; Amino Acid Substitution; Asparagine; Child; Female; Humans; Mutation; Protein-Tyrosi | 2000 |
A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.
Topics: Achondroplasia; Animals; Base Sequence; Cell Differentiation; Cell Division; Chondrocytes; Cysteine; | 2001 |