Page last updated: 2024-11-08

serine and Abnormalities, Autosome

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.

Research Excerpts

ExcerptRelevanceReference
"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."1.30Chromosome 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)

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19902 (13.33)18.7374
1990's4 (26.67)18.2507
2000's5 (33.33)29.6817
2010's3 (20.00)24.3611
2020's1 (6.67)2.80

Authors

AuthorsStudies
Zhan, P1
Hao, T1
Yang, X1
Zhang, Y1
Beckta, JM1
Dever, SM1
Gnawali, N1
Khalil, A1
Sule, A1
Golding, SE1
Rosenberg, E1
Narayanan, A1
Kehn-Hall, K1
Xu, B1
Povirk, LF1
Valerie, K1
Matsuda, S1
Matsuda, Y1
Yanagisawa, SY1
Ikura, M1
Ikura, T1
Matsuda, T1
Rios-Doria, J1
Velkova, A1
Dapic, V2
Galán-Caridad, JM1
Carvalho, MA1
Melendez, J1
Monteiro, AN1
Mayer, DE1
Baal, C1
Litschauer-Poursadrollah, M1
Hemmer, W1
Jarisch, R1
Williams-Gray, CH1
Goris, A1
Foltynie, T1
Brown, J1
Maranian, M1
Walton, A1
Compston, DA1
Sawcer, SJ1
Barker, RA1
Skjelbred, CF1
Svendsen, M1
Haugan, V1
Eek, AK1
Clausen, KO1
Svendsen, MV1
Hansteen, IL1
Kiriyama, T1
Tanizawa, E1
Hirano, M1
Shinkai, T1
Asai, H1
Furiya, Y1
Ueno, S1
Berciano, J1
Gallardo, E2
Domínguez-Perles, R1
García, A1
García-Barredo, R1
Combarros, O1
Infante, J1
Illa, I1
Cummings, J1
Sumner, AT1
Slavotinek, A1
Meikle, I1
Macpherson, JS1
Smyth, JF1
Richards, SC1
Creel, DJ1
Harvey, RJ1
Ellison, D1
Hardy, J1
Hutton, M1
Roques, PK1
Collinge, J1
Fox, NC1
Rossor, MN1
Gebhart, E1
Mottes, M1
Sangalli, A1
Valli, M1
Gomez Lira, M1
Tenni, R1
Buttitta, P1
Pignatti, PF1
Cetta, G1
Tada, K1
Yoshida, T1
Yokoyama, Y1
Sato, T1
Nakagawa, H1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Impact of Folates in the Care of the Male Infertility[NCT01407432]Phase 3162 participants (Actual)Interventional2011-11-30Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Other Studies

15 other studies available for serine and Abnormalities, Autosome

ArticleYear
Association between chromosome 22q11.2 translocation and male oligozoospermia.
    Medicine, 2022, Sep-30, Volume: 101, Issue:39

    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.
    Oncotarget, 2015, Sep-29, Volume: 6, Issue:29

    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.
    Toxicological sciences : an official journal of the Society of Toxicology, 2016, Volume: 151, Issue:2

    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.
    Cancer biology & therapy, 2009, Volume: 8, Issue:5

    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.
    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2010, Volume: 8, Issue:2

    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.
    Journal of neurology, neurosurgery, and psychiatry, 2006, Volume: 77, Issue:5

    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.
    Mutation research, 2006, Dec-01, Volume: 602, Issue:1-2

    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.
    Clinical neurology and neurosurgery, 2007, Volume: 109, Issue:6

    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.
    Journal of neurology, neurosurgery, and psychiatry, 2008, Volume: 79, Issue:2

    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.
    Mutation research, 1995, Volume: 344, Issue:1-2

    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.
    Retina (Philadelphia, Pa.), 1995, Volume: 15, Issue:1

    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.
    Journal of neurology, neurosurgery, and psychiatry, 1998, Volume: 64, Issue:1

    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.
    Human genetics, 1978, Aug-31, Volume: 43, Issue:2

    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.
    Human genetics, 1992, Volume: 89, Issue:5

    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.
    The Tohoku journal of experimental medicine, 1968, Volume: 95, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Carbon Isotopes; Child; Child, Pres

1968