alanine has been researched along with Polysyndactyly in 7 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 |
|---|---|---|
| "In the family with syndactyly type V, we identified a missense mutation in the HOXD13 homeodomain, c." | 1.34 | Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. ( Amzel, LM; Ao, Y; Jabs, EW; Leyva, JA; Liu, G; Liu, Q; Lo, WH; Shan, X; Sun, M; Yang, W; Zeng, X; Zhang, X; Zhao, J; Zhao, X; Zhu, H, 2007) |
| "Type II syndactyly or synpolydactyly (SPD) is clinically very heterogeneous, and genetically three distinct SPD conditions are known and have been designated as SPD1, SPD2 and SPD3, respectively." | 1.34 | Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences. ( Ahmad, W; Girisha, KM; Grzeschik, KH; Haque, S; Koch, MC; Malik, S; Phadke, SR; Roy, AK; Wajid, M, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (14.29) | 18.2507 |
| 2000's | 3 (42.86) | 29.6817 |
| 2010's | 1 (14.29) | 24.3611 |
| 2020's | 2 (28.57) | 2.80 |
| Authors | Studies |
|---|---|
| Gottschalk, A | 1 |
| Sczakiel, HL | 1 |
| Hülsemann, W | 1 |
| Schwartzmann, S | 1 |
| Abad-Perez, AT | 1 |
| Grünhagen, J | 1 |
| Ott, CE | 1 |
| Spielmann, M | 1 |
| Horn, D | 1 |
| Mundlos, S | 2 |
| Jamsheer, A | 1 |
| Mensah, MA | 1 |
| Basu, S | 1 |
| Mackowiak, SD | 1 |
| Niskanen, H | 1 |
| Knezevic, D | 1 |
| Asimi, V | 1 |
| Grosswendt, S | 1 |
| Geertsema, H | 1 |
| Ali, S | 1 |
| Jerković, I | 1 |
| Ewers, H | 1 |
| Meissner, A | 1 |
| Ibrahim, DM | 1 |
| Hnisz, D | 1 |
| Xin, Q | 1 |
| Li, L | 1 |
| Li, J | 1 |
| Qiu, R | 1 |
| Guo, C | 1 |
| Gong, Y | 1 |
| Liu, Q | 2 |
| Kjaer, KW | 1 |
| Hedeboe, J | 1 |
| Bugge, M | 1 |
| Hansen, C | 1 |
| Friis-Henriksen, K | 1 |
| Vestergaard, MB | 1 |
| Tommerup, N | 1 |
| Opitz, JM | 1 |
| Zhao, X | 1 |
| Sun, M | 1 |
| Zhao, J | 1 |
| Leyva, JA | 1 |
| Zhu, H | 1 |
| Yang, W | 1 |
| Zeng, X | 1 |
| Ao, Y | 1 |
| Liu, G | 1 |
| Lo, WH | 1 |
| Jabs, EW | 1 |
| Amzel, LM | 1 |
| Shan, X | 1 |
| Zhang, X | 1 |
| Malik, S | 1 |
| Girisha, KM | 1 |
| Wajid, M | 1 |
| Roy, AK | 1 |
| Phadke, SR | 1 |
| Haque, S | 1 |
| Ahmad, W | 1 |
| Koch, MC | 1 |
| Grzeschik, KH | 1 |
| Akarsu, AN | 1 |
| Stoilov, I | 1 |
| Yilmaz, E | 1 |
| Sayli, BS | 1 |
| Sarfarazi, M | 1 |
1 review available for alanine and Polysyndactyly
| Article | Year |
|---|---|
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Topics: Alanine; Genotype; Homeodomain Proteins; Humans; Mutation; Pedigree; Phenotype; Syndactyly; Transcri | 2023 |
6 other studies available for alanine and Polysyndactyly
| Article | Year |
|---|---|
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease.
Topics: Alanine; Animals; Base Sequence; Disease Models, Animal; DNA Repeat Expansion; Homeodomain Proteins; | 2020 |
Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.
Topics: Adult; Alanine; Asian People; Child, Preschool; DNA Mutational Analysis; Family; Female; Genes, Home | 2012 |
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
Topics: Alanine; Base Sequence; DNA; DNA Mutational Analysis; Family Health; Female; Genotype; Homeodomain P | 2002 |
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
Topics: Alanine; Homeodomain Proteins; Humans; Models, Molecular; Mutation; Pedigree; Promoter Regions, Gene | 2007 |
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.
Topics: Alanine; Female; Fingers; Genotype; Homeodomain Proteins; Humans; Male; Molecular Sequence Data; Mut | 2007 |
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.
Topics: Adolescent; Alanine; Amino Acid Sequence; Base Sequence; Child; Dinucleotide Repeats; Exons; Female; | 1996 |