serine has been researched along with Abnormalities, Autosome in 15 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 |
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"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 | 2 (13.33) | 18.7374 |
1990's | 4 (26.67) | 18.2507 |
2000's | 5 (33.33) | 29.6817 |
2010's | 3 (20.00) | 24.3611 |
2020's | 1 (6.67) | 2.80 |
Authors | Studies |
---|---|
Zhan, P | 1 |
Hao, T | 1 |
Yang, X | 1 |
Zhang, Y | 1 |
Beckta, JM | 1 |
Dever, SM | 1 |
Gnawali, N | 1 |
Khalil, A | 1 |
Sule, A | 1 |
Golding, SE | 1 |
Rosenberg, E | 1 |
Narayanan, A | 1 |
Kehn-Hall, K | 1 |
Xu, B | 1 |
Povirk, LF | 1 |
Valerie, K | 1 |
Matsuda, S | 1 |
Matsuda, Y | 1 |
Yanagisawa, SY | 1 |
Ikura, M | 1 |
Ikura, T | 1 |
Matsuda, T | 1 |
Rios-Doria, J | 1 |
Velkova, A | 1 |
Dapic, V | 2 |
Galán-Caridad, JM | 1 |
Carvalho, MA | 1 |
Melendez, J | 1 |
Monteiro, AN | 1 |
Mayer, DE | 1 |
Baal, C | 1 |
Litschauer-Poursadrollah, M | 1 |
Hemmer, W | 1 |
Jarisch, R | 1 |
Williams-Gray, CH | 1 |
Goris, A | 1 |
Foltynie, T | 1 |
Brown, J | 1 |
Maranian, M | 1 |
Walton, A | 1 |
Compston, DA | 1 |
Sawcer, SJ | 1 |
Barker, RA | 1 |
Skjelbred, CF | 1 |
Svendsen, M | 1 |
Haugan, V | 1 |
Eek, AK | 1 |
Clausen, KO | 1 |
Svendsen, MV | 1 |
Hansteen, IL | 1 |
Kiriyama, T | 1 |
Tanizawa, E | 1 |
Hirano, M | 1 |
Shinkai, T | 1 |
Asai, H | 1 |
Furiya, Y | 1 |
Ueno, S | 1 |
Berciano, J | 1 |
Gallardo, E | 2 |
Domínguez-Perles, R | 1 |
García, A | 1 |
García-Barredo, R | 1 |
Combarros, O | 1 |
Infante, J | 1 |
Illa, I | 1 |
Cummings, J | 1 |
Sumner, AT | 1 |
Slavotinek, A | 1 |
Meikle, I | 1 |
Macpherson, JS | 1 |
Smyth, JF | 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 |
Gebhart, E | 1 |
Mottes, M | 1 |
Sangalli, A | 1 |
Valli, M | 1 |
Gomez Lira, M | 1 |
Tenni, R | 1 |
Buttitta, P | 1 |
Pignatti, PF | 1 |
Cetta, G | 1 |
Tada, K | 1 |
Yoshida, T | 1 |
Yokoyama, Y | 1 |
Sato, T | 1 |
Nakagawa, H | 1 |
Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
---|---|---|---|---|---|---|---|
Impact of Folates in the Care of the Male Infertility[NCT01407432] | Phase 3 | 162 participants (Actual) | Interventional | 2011-11-30 | Completed | ||
[information is prepared from clinicaltrials.gov, extracted Sep-2024] |
15 other studies available for serine and Abnormalities, Autosome
Article | Year |
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Association between chromosome 22q11.2 translocation and male oligozoospermia.
Topics: Chromosome Aberrations; Chromosomes; Humans; Infertility, Male; Male; Oligospermia; Protein Serine-T | 2022 |
Mutation of the BRCA1 SQ-cluster results in aberrant mitosis, reduced homologous recombination, and a compensatory increase in non-homologous end joining.
Topics: Alanine; Ataxia Telangiectasia Mutated Proteins; BRCA1 Protein; Cell Cycle Proteins; Cell Death; Cel | 2015 |
Disruption of DNA Damage-Response by Propyl Gallate and 9-Aminoacridine.
Topics: Adaptor Proteins, Signal Transducing; Aminacrine; Camptothecin; Cell Cycle Proteins; Chromosome Aber | 2016 |
Ectopic expression of histone H2AX mutants reveals a role for its post-translational modifications.
Topics: Amino Acid Substitution; Apoptosis; Blotting, Western; Cell Cycle; Cell Line; Chromosome Aberrations | 2009 |
Uncombable hair and atopic dermatitis in a case of trichodento-osseous syndrome.
Topics: Amino Acid Substitution; Child; Chromosome Aberrations; Chromosomes, Human, Pair 17; Dental Enamel H | 2010 |
Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Chromosome Aberrations; Cohort Studies; DNA | 2006 |
Influence of DNA repair gene polymorphisms of hOGG1, XRCC1, XRCC3, ERCC2 and the folate metabolism gene MTHFR on chromosomal aberration frequencies.
Topics: Adult; Chromosome Aberrations; Cohort Studies; Cysteine; DNA Glycosylases; DNA Repair; DNA-Binding P | 2006 |
SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts.
Topics: Adult; Astrocytes; Central Nervous System Cysts; Cephalometry; Cerebellum; Cerebral Cortex; Chromoso | 2007 |
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
Topics: Adipose Tissue; Adult; Aged; Amino Acid Substitution; Atrophy; Biopsy; Chromosome Aberrations; Codon | 2008 |
Cytogenetic evaluation of the mechanism of cell death induced by the novel anthracenyl-amino acid topoisomerase II catalytic inhibitor NU/ICRF 500.
Topics: Animals; Anthraquinones; Catalysis; Cell Cycle; Cell Death; CHO Cells; Chromosome Aberrations; Crice | 1995 |
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 |
The anticlastogenic effect of various combinations of cysteamine, AET, HCT, and amino acids on chromosome damage by trenimon and bleomycin in human lymphocytes in vitro.
Topics: Alkylating Agents; Amino Acids, Sulfur; Aspartic Acid; beta-Aminoethyl Isothiourea; Bleomycin; Chrom | 1978 |
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.
Topics: Base Sequence; Child; Chromosome Aberrations; Codon; Collagen; DNA Mutational Analysis; Female; Gene | 1992 |
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 |