37 Result(s)
within
Ben Ep**er
Biomedicine
Cytogenetics
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Article
Open AccessConcurrently map** quantitative trait loci associations from multiple subspecies within hybrid populations
Many of the world’s agriculturally important plant and animal populations consist of hybrids of subspecies. Cattle in tropical and sub-tropical regions for example, originate from two subspecies, Bos taurus indic...
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Open AccessNew insights regarding origin of monosomy occurrence in early develo** embryos as demonstrated in preimplantation genetic testing
Analyses of miscarriage products indicate that the majority of aneuploidies in early develo** embryos derive from errors occurring during maternal meiosis and the paternal contribution is less than 10%. Our ...
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Article
Male and female genotype and a genotype-by-genotype interaction mediate the effects of mating on cellular but not humoral immunity in female decorated crickets
Sexually antagonistic coevolution is predicted to lead to the divergence of male and female genotypes related to the effects of substances transferred by males at mating on female physiology. The outcome of ma...
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Open AccessDisorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene
Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype–phenotype correlation; we car...
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Open AccessPhenology and related traits for wheat adaptation
Wheat is a major food crop, with around 765 million tonnes produced globally. The largest wheat producers include the European Union, China, India, Russia, United States, Canada, Pakistan, Australia, Ukraine a...
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Open AccessIdentification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The synd...
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Open AccessThe mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accu...
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Genetic homogeneity in the face of morphological heterogeneity in the harbor porpoise from the Black Sea and adjacent waters (Phocoena phocoena relicta)
Absence of genetic differentiation is usually taken as an evidence of panmixia, but can also reflect other situations, including even nearly complete demographic independence among large-sized populations. Dec...
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Open AccessNeuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few case...
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Open AccessProgressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although ...
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Article
Open AccessClinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The ai...
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Conservation priorities for endangered coastal North African Pennisetum glaucum L. landrace populations as inferred from phylogenetic considerations and population structure analysis
The increasing anthropologic pressure and the modernization of agriculture have led to a forsaking of pearl millet traditional cultivars, inducing a progressive loss of the genetic variability encompassed in t...
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Heritability of climate-relevant traits in a rainforest skink
There is justified concern about the impact of global warming on the persistence of tropical ectotherms. There is also growing evidence for strong selection on climate-relevant physiological traits. Understand...
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Fine-scale temperature-associated genetic structure between inshore and offshore populations of sea scallop (Placopecten magellanicus)
In the northwest Atlantic Ocean, sea scallop (Placopecten magellanicus) has been characterized by a latitudinal genetic cline with a breakpoint between northern and southern genetic clusters occurring at ~45°N al...
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Recent advances in vertebrate and invertebrate transgenerational immunity in the light of ecology and evolution
Parental experience with parasites and pathogens can lead to increased offspring resistance to infection, through a process known as transgenerational immune priming (TGIP). Broadly defined, TGIP occurs across...
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Open AccessCompound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus
Congenital hydrocephalus (CH) results from the accumulation of excessive amounts of cerebrospinal fluid (CSF) in the brain, often leading to severe neurological impairments. However, the adverse effects of CH ...
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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...
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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 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 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...
