serine has been researched along with Coats Disease 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 |
|---|---|---|
| "Two variants known to cause HSAN1 were identified as causal for macular telangiectasia type 2: of 11 patients with HSAN1, 9 also had macular telangiectasia type 2." | 1.51 | Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. ( Allikmets, R; Badur, MG; Bahlo, M; Baldini, M; Bernstein, PS; Bonelli, R; Cai, C; Dorrell, MI; Eade, K; Egan, C; Eichler, F; Fallon, R; Friedlander, M; Fruttiger, M; Gantner, ML; Giles, S; Gillies, M; Guymer, R; Handzlik, MK; Harkins-Perry, S; Hart, BJ; Heeren, TFC; Ideguchi, Y; Kitano, M; Metallo, CM; Nagasaki, T; Okada, M; Sauer, L; Scheppke, L; Trombley, J; Wallace, M; Woods, SM, 2019) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (16.67) | 24.3611 |
| 2020's | 5 (83.33) | 2.80 |
| Authors | Studies |
|---|---|
| Rodrigues, FG | 1 |
| Pipis, M | 1 |
| Heeren, TFC | 2 |
| Fruttiger, M | 2 |
| Gantner, M | 1 |
| Vermeirsch, S | 1 |
| Okada, M | 2 |
| Friedlander, M | 4 |
| Reilly, MM | 1 |
| Egan, C | 2 |
| Eade, KT | 1 |
| Ansell, BRE | 2 |
| Giles, S | 3 |
| Fallon, R | 3 |
| Harkins-Perry, S | 3 |
| Nagasaki, T | 3 |
| Tzaridis, S | 1 |
| Wallace, M | 3 |
| Mills, EA | 1 |
| Farashi, S | 1 |
| Johnson, A | 1 |
| Sauer, L | 2 |
| Hart, B | 1 |
| Diaz-Rubio, ME | 1 |
| Bahlo, M | 4 |
| Metallo, C | 1 |
| Allikmets, R | 3 |
| Gantner, ML | 3 |
| Bernstein, PS | 2 |
| Eade, K | 2 |
| Handzlik, MK | 1 |
| Trombley, J | 1 |
| Bonelli, R | 3 |
| Ideguchi, Y | 1 |
| Baldini, M | 2 |
| Scheppke, L | 2 |
| Dorrell, MI | 2 |
| Kitano, M | 1 |
| Hart, BJ | 1 |
| Cai, C | 2 |
| Badur, MG | 1 |
| Woods, SM | 1 |
| Gillies, M | 1 |
| Guymer, R | 1 |
| Eichler, F | 1 |
| Metallo, CM | 2 |
| Lotta, LA | 1 |
| Pietzner, M | 1 |
| Stewart, ID | 1 |
| Wittemans, LBL | 1 |
| Li, C | 1 |
| Raffler, J | 1 |
| Biggs, EK | 1 |
| Oliver-Williams, C | 1 |
| Auyeung, VPW | 1 |
| Luan, J | 1 |
| Wheeler, E | 1 |
| Paige, E | 1 |
| Surendran, P | 1 |
| Michelotti, GA | 1 |
| Scott, RA | 1 |
| Burgess, S | 1 |
| Zuber, V | 1 |
| Sanderson, E | 1 |
| Koulman, A | 1 |
| Imamura, F | 1 |
| Forouhi, NG | 1 |
| Khaw, KT | 1 |
| Griffin, JL | 1 |
| Wood, AM | 1 |
| Kastenmüller, G | 1 |
| Danesh, J | 1 |
| Butterworth, AS | 1 |
| Gribble, FM | 1 |
| Reimann, F | 1 |
| Fauman, E | 1 |
| Wareham, NJ | 1 |
| Langenberg, C | 2 |
| Lotta, L | 1 |
| Scerri, T | 1 |
| Clemons, TE | 1 |
| Leung, I | 1 |
| Peto, T | 1 |
| Bird, AC | 1 |
| Sallo, FB | 1 |
| Hostyk, JA | 1 |
| Lim, EW | 1 |
| Baugh, EH | 1 |
| Wolock, CJ | 1 |
| Berlow, RB | 1 |
| Goldstein, DB | 1 |
6 other studies available for serine and Coats Disease
| Article | Year |
|---|---|
Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.
Topics: Hereditary Sensory and Autonomic Neuropathies; Humans; Retinal Telangiectasis; Serine; Serine C-Palm | 2022 |
iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.
Topics: Diabetic Retinopathy; Epithelial Cells; Humans; Induced Pluripotent Stem Cells; Mitochondria; Retina | 2023 |
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
Topics: Adult; Aged; Animals; Disease Models, Animal; DNA Mutational Analysis; Exome; Female; Hereditary Sen | 2019 |
A cross-platform approach identifies genetic regulators of human metabolism and health.
Topics: Diabetes Mellitus, Type 2; Eye Diseases; Gene Frequency; Genetic Loci; Genetic Pleiotropy; Genome, H | 2021 |
Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression.
Topics: Biosynthetic Pathways; Diabetes Mellitus, Type 2; Disease Progression; Endophenotypes; Genetic Loci; | 2021 |
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Topics: Cohort Studies; Haploinsufficiency; Humans; Phenotype; Phosphoglycerate Dehydrogenase; Retinal Pigme | 2021 |