Association of Single Nucleotide Polymorphisms in the PYGO2 and PRDM9 Genes with Idiopathic Azoospermia in Iranian Infertile Male Patients [PDF]
Iranian Journal of Medical Sciences, 2023 Background: Azoospermia is a risk factor for infertility affecting approximately 1% of the male population. Genetic factors are associated with non-obstructive azoospermia (NOA). Pygo2 and PRDM9 genes are involved in the spermatogenesis process.
Sanaz Soleymani Moud +3 more
doaj +1 more source
Investigations into the molecular effects of single nucleotide polymorphism [PDF]
, 2000 Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe
core +1 more source
Single Nucleotide Polymorphism Clustering in Systemic Autoimmune Diseases. [PDF]
PLoS ONE, 2016 Systemic Autoimmune Diseases, a group of chronic inflammatory conditions, have variable symptoms and difficult diagnosis. In order to reclassify them based on genetic markers rather than clinical criteria, we performed clustering of Single Nucleotide ...
Thomas Charlon +8 more
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Copy-number-variation and copy-number-alteration region detection by cumulative plots [PDF]
BMC Bioinformatics, 10(suppl 1):S67 (2009), 2009 Background: Regions with copy number variations (in germline cells) or copy number alteration (in somatic cells) are of great interest for human disease gene mapping and cancer studies. They represent a new type of mutation and are larger-scaled than the single nucleotide polymorphisms.
arxiv +1 more source
Simultaneous profiling of transcriptome and DNA methylome from a single cell. [PDF]
, 2016 BackgroundSingle-cell transcriptome and single-cell methylome technologies have become powerful tools to study RNA and DNA methylation profiles of single cells at a genome-wide scale. A major challenge has been to understand the direct correlation of DNA
An, Qin +9 more
core +3 more sources
p53 codon 72 polymorphism in Taiwanese breast cancer patients
Kaohsiung Journal of Medical Sciences, 2013 There are clear discrepancies between ethnicity and geographic area regarding the peak age incidence and mortality of breast cancer. Underlying variances include genetic, environmental, and socioeconomic factors.
Fang-Ming Chen +4 more
doaj +1 more source
Picking single-nucleotide polymorphisms in forests [PDF]
BMC Proceedings, 2007 Abstract With the development of high-throughput single-nucleotide polymorphism (SNP) technologies, the vast number of SNPs in smaller samples poses a challenge to the application of classical statistical procedures. A possible solution is to use a two-stage approach for case-control data in which, in the first stage, a screening test selects
Silke Szymczak +3 more
openaire +3 more sources
Association of the leptin receptor Q223R (rs1137101) polymorphism with obesity measures in Sri Lankans [PDF]
, 2020 OBJECTIVE: The role of genetic factors in the development of obesity is largely unreported in Sri Lankans. The Q223R (rs1137101) single nucleotide polymorphism (SNP) of the leptin receptor (LEPR) gene has been associated with obesity measures in various ...
Dalton, C.F. +3 more
core +1 more source
A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset: HapMap tag-sincle-nucleotide polymorphism analysis [PDF]
, 2012 Background: Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain which is known to be important in the aetiology of schizophrenia. It is therefore not surprising that most antipsychotic medication acts
Hughes, Ian +5 more
core +2 more sources
Superoxide dismutase coding of gene polymorphisms associated with susceptibility to Parkinson’s disease [PDF]
Journal of Integrative Neuroscience, 2019 Oxidative stress linked to the etiology of Parkinson’s disease, which is characterized by chronic and progressive neurodegeneration of dopamine neurons.
Chunlei Liu, Jinju Fang, Wenke Liu
doaj +1 more source