36 Result(s)
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Haptoglobin DNA polymorphism in subterranean mole rats of the Spalax ehrenbergi superspecies in Israel
We analyzed the genetic diversity and environmental correlates of the haptoglobin (Hp) gene by RFLP analysis of 121 subterranean mole rats, comprising 13 populations belonging to the 4 chromosomal species (2n ...
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Population genetics of the moss Plagiothecium undulatum (Hedw.) Schimp. I. Inheritance of allozymes
Twenty-one allozyme loci were assayed in a subpopulation of the dioecious moss Plagiothecium undulatum. Six loci were polymorphic and could be used to demonstrate the different expression of allozymes at the hapl...
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Period-homologous sequence polymorphisms in subterranean mammals of the Spalax ehrenbergi superspecies in Israel
Restriction fragment length polymorphism (RFLPs) of the mouse period-homologous sequence were studied in 13 populations of the four chromosomal species (2n = 52, 54, 58 and 60) of the mole rat, Spalax ehrenbergi ...
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Recent studies of avian sex ratios
Sex allocation theory, and its success in predicting sex ratios in such taxa as parasitoid wasps, is often cited as one of the crowning achievements of theoretical evolutionary biology. Its success in some ver...
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Genetic architecture of fitness and nonfitness traits: empirical patterns and development of ideas
Comparative studies of the genetic architecture of different types of traits were initially prompted by the expectation that traits under strong directional selection (fitness traits) should have lower levels ...
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Open AccessA 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK term...
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Open AccessCatechol-O-Methyltransferase (COMT) Val 108/158 Metpolymorphism does not modulate executive function in children with ADHD
An association has been observed between the catechol-O-methyltransferase (COMT) gene, the predominant means of catecholamine catabolism within the prefrontal cortex (PFC), and neuropsychological task performance...
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Evidence for a major gene affecting the transition from normoglycaemia to hyperglycaemia in Psammomys obesus
We investigated the mode of inheritance of nutritionally induced diabetes in the desert gerbil Psammomys obesus (sand rat), following transfer from low-energy (LE) to high-energy (HE) diet which induces hyperglyc...
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Application of SNPs for assessing biodiversity and phylogeny among yeast strains
We examined the efficacy of single-nucleotide polymorphism (SNP) markers for the assessment of the phylogeny and biodiversity of Saccharomyces strains. Each of 32 Saccharomyces cerevisiae strains was genotyped at...
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Open AccessAssociation between TCF7L2gene polymorphisms and susceptibility to Type 2 Diabetes Mellitus: a large Human Genome Epidemiology (HuGE) review and meta-analysis
Transcription factor 7-like 2 (TCF7L2) has been shown to be associated with type 2 diabetes mellitus (T2MD) in multiple ethnic groups in the past two years, but, contradictory results were reported for Chinese an...
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Open AccessA meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2with serum creatinine level
Serum creatinine (SCR) is the most important biomarker for a quick and non-invasive assessment of kidney function in population-based surveys. A substantial proportion of the inter-individual variability in SCR l...
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Open AccessAssociation study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population
At least twenty genes/loci were shown to be associated with type 2diabetes in European original populations. Five of these genes were shown to be associated with type 2 diabetes (T2D) in Chinese populations. T...
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Open AccessA non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture
The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the ...
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Open AccessMaternal and offspring fasting glucose and type 2 diabetes-associated genetic variants and cognitive function at age 8: a Mendelian randomization study in the Avon Longitudinal Study of Parents and Children
In observational epidemiological studies type 2 diabetes (T2D) and both low and high plasma concentrations of fasting glucose have been found to be associated with lower cognitive performance. These associatio...
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Open AccessMolecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes
Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + −ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, lar...
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Open AccessInduction of polyploidy by nuclear fusion mechanism upon decreased expression of the nuclear envelope protein LAP2β in the human osteosarcoma cell line U2OS
Polyploidy has been recognized for many years as an important hallmark of cancer cells. Polyploid cells can arise through cell fusion, endoreplication and abortive cell cycle. The inner nuclear membrane protein L...
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Open AccessPHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
Molecular diagnosis of glycogen storage diseases (GSDs) is important to enable accurate diagnoses and make appropriate therapeutic plans. The aim of this study was to evaluate the PHKA2 mutation spectrum in Korea...
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Open AccessW44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report
WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein show...
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Open AccessNo association between TGF-β1 polymorphisms and risk of nasopharyngeal carcinoma in a large North African case-control study
Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa....
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Open AccessUsing KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort
In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson’s disease (PD). Early detection...
