serine has been researched along with Retinal Telangiectasis 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.
Retinal Telangiectasis: A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels.
| 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 Retinal Telangiectasis
| 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 |