alanine has been researched along with Apnea, Central in 4 studies
Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Heterozygous in frame trinucleotide duplications within the PHOX2B gene, leading to poly-alanine expansions, cause Congenital Central Hypoventilation Syndrome." | 3.80 | Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism. ( Bachetti, T; Ceccherini, I; Della Monica, M; Di Duca, M; Grappone, L; Scarano, G, 2014) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (50.00) | 29.6817 |
| 2010's | 2 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bachetti, T | 1 |
| Di Duca, M | 1 |
| Della Monica, M | 1 |
| Grappone, L | 1 |
| Scarano, G | 1 |
| Ceccherini, I | 1 |
| Wang, Y | 1 |
| He, XY | 1 |
| Yang, Y | 1 |
| Chen, XC | 1 |
| Amiel, J | 2 |
| Laudier, B | 1 |
| Attié-Bitach, T | 1 |
| Trang, H | 1 |
| de Pontual, L | 2 |
| Gener, B | 1 |
| Trochet, D | 2 |
| Etchevers, H | 1 |
| Ray, P | 1 |
| Simonneau, M | 1 |
| Vekemans, M | 1 |
| Munnich, A | 2 |
| Gaultier, C | 1 |
| Lyonnet, S | 2 |
| Estêvao, MH | 1 |
| Mathieu, Y | 1 |
| Feingold, J | 1 |
| Goridis, C | 1 |
4 other studies available for alanine and Apnea, Central
| Article | Year |
|---|---|
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.
Topics: Abortion, Spontaneous; Alanine; Electrophoresis, Capillary; Female; Genetic Counseling; Germ-Line Mu | 2014 |
[Congenital central hypoventilation syndrome, report of three cases].
Topics: Alanine; Blood Gas Analysis; Carbon Dioxide; DNA Mutational Analysis; Exons; Female; Homeodomain Pro | 2013 |
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Topics: Alanine; Brain Stem; Frameshift Mutation; Heterozygote; Homeodomain Proteins; Humans; Mutation; Nerv | 2003 |
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
Topics: Alanine; Alleles; Female; Genes, Dominant; Homeodomain Proteins; Homozygote; Humans; Infant, Newborn | 2008 |