alanine has been researched along with Abnormalities, Multiple in 6 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.
Abnormalities, Multiple: Congenital abnormalities that affect more than one organ or body structure.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Char syndrome is an autosomal dominant trait characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies." | 1.31 | Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. ( Burn, J; Davidson, HR; Diaz, GA; Gelb, BD; Goodship, J; Pierpont, ME; Satoda, M; Zhao, F, 2000) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (16.67) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 5 (83.33) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Wudy, SA | 1 |
| Hartmann, MF | 1 |
| Draper, N | 1 |
| Stewart, PM | 1 |
| Arlt, W | 1 |
| Garg, A | 1 |
| Cogulu, O | 1 |
| Ozkinay, F | 1 |
| Onay, H | 1 |
| Agarwal, AK | 1 |
| Fuse, N | 1 |
| Takahashi, K | 1 |
| Yokokura, S | 1 |
| Nishida, K | 1 |
| Lew, ED | 1 |
| Bae, JH | 1 |
| Rohmann, E | 1 |
| Wollnik, B | 1 |
| Schlessinger, J | 1 |
| Bier, DM | 1 |
| Schedewie, H | 1 |
| Larner, J | 1 |
| Olefsky, J | 1 |
| Rubenstein, A | 1 |
| Fiser, RH | 1 |
| Craig, JW | 1 |
| Elders, MJ | 1 |
| Satoda, M | 1 |
| Zhao, F | 1 |
| Diaz, GA | 1 |
| Burn, J | 1 |
| Goodship, J | 1 |
| Davidson, HR | 1 |
| Pierpont, ME | 1 |
| Gelb, BD | 1 |
1 review available for alanine and Abnormalities, Multiple
| Article | Year |
|---|---|
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
Topics: Abnormalities, Multiple; Adolescent; Alanine; Bone and Bones; Breast; Craniofacial Abnormalities; DN | 2005 |
5 other studies available for alanine and Abnormalities, Multiple
| Article | Year |
|---|---|
A male twin infant with skull deformity and elevated neonatal 17-hydroxyprogesterone: a prismatic case of P450 oxidoreductase deficiency.
Topics: 17-alpha-Hydroxyprogesterone; Abnormalities, Multiple; Alanine; Amino Acid Substitution; Cytosine; D | 2004 |
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Adult; Alanine; Anterior Eye Segment; Asian People; Base Sequence; Child, P | 2007 |
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.
Topics: Abnormalities, Multiple; Adenosine Triphosphate; Alanine; Crystallography, X-Ray; Humans; Models, Mo | 2007 |
Glucose kinetics in leprechaunism: accelerated fasting due to insulin resistance.
Topics: Abnormalities, Multiple; Alanine; Blood Glucose; Child, Preschool; Eating; Fasting; Female; Fetal Gr | 1980 |
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
Topics: 3T3 Cells; Abnormalities, Multiple; Alanine; Amino Acid Sequence; Animals; Aspartic Acid; Cell Line; | 2000 |