serine has been researched along with Autosomal Chromosome Disorders in 4 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 |
|---|---|---|
| "Cowden's syndrome is a rare autosomal dominant disorder that has been linked to germline mutations in the phosphatase and TENsin homolog (PTEN) gene." | 1.39 | Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L. ( Boespflug, A; Bringuier, PP; Couraud, S; Durieu, I; Edery, P; Gérinière, L; Isaac, S; Perrot, E; Souquet, PJ, 2013) |
| "PS1 L250S familial Alzheimer's disease is an early onset form of Alzheimer's disease with clinical features similar to other reported familial Alzheimer's disease pedigrees, except that seizures were absent." | 1.30 | Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene. ( Collinge, J; Ellison, D; Fox, NC; Hardy, J; Harvey, RJ; Hutton, M; Roques, PK; Rossor, MN, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (25.00) | 18.7374 |
| 1990's | 2 (50.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (25.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Boespflug, A | 1 |
| Couraud, S | 1 |
| Bringuier, PP | 1 |
| Isaac, S | 1 |
| Gérinière, L | 1 |
| Perrot, E | 1 |
| Edery, P | 1 |
| Durieu, I | 1 |
| Souquet, PJ | 1 |
| Richards, SC | 1 |
| Creel, DJ | 1 |
| Harvey, RJ | 1 |
| Ellison, D | 1 |
| Hardy, J | 1 |
| Hutton, M | 1 |
| Roques, PK | 1 |
| Collinge, J | 1 |
| Fox, NC | 1 |
| Rossor, MN | 1 |
| Tada, K | 1 |
| Yoshida, T | 1 |
| Yokoyama, Y | 1 |
| Sato, T | 1 |
| Nakagawa, H | 1 |
4 other studies available for serine and Autosomal Chromosome Disorders
| Article | Year |
|---|---|
Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L.
Topics: Adenocarcinoma; Adult; Chromosome Disorders; Diagnosis, Differential; DNA Mutational Analysis; ErbB | 2013 |
Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.
Topics: Adult; Aged; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 6; Eye Proteins; | 1995 |
Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.
Topics: Age of Onset; Alzheimer Disease; Amino Acid Substitution; Chromosome Aberrations; Chromosome Disorde | 1998 |
Cystathioninuria not associated with vitamin B6 dependency: a probably new type of cystathioninuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Carbon Isotopes; Child; Child, Pres | 1968 |