227 publication(s) trouvée(s)
Article scientifique
A circulating three-miRNA panel (hsa-miR-29b-3p, hsa-miR-19b-3p, hsa-miR-30e-5p) for early-stage ovarian cancer detection: a machine-learning bioinformatics approach
Background: Ovarian cancer (OVCA) remains one of the most lethal gynecological malignancies, primarily due to late-stage diagnosis and the lack …
Article scientifique
Beyond CCR5 and HLA: rare genetic variants in HIV acquisition and disease progression
class I region, first identified through candidate gene studies, remain the most well-characterized host genetic factors associated with HIV acquisition …
Article scientifique
Clinical and neuropsychological profile of Alzheimer’s disease in Tunisia and the impact of APOE gene
Introduction Alzheimer’s disease (AD), the leading cause of major neurocognitive disorder (MNCD) worldwide and in Tunisia, is strongly associated with …
Article scientifique
Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review
Background: The genetic aetiology of global developmental delay (GDD) and intellectual disability (ID) in Africa is poorly understood. This review …
Article scientifique
Whole-genome sequencing reveals genomic diversity and selection signatures for adaptation in South African Afrikaner and Bonsmara cattle
The indigenous Afrikaner and composite Bonsmara cattle breeds are hardy and adapted to the diverse South African climate and biomes. …
Article scientifique
Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach
Background Corpus callosum abnormalities (CCA) represent a heterogeneous group of neurodevelopmental disorders resulting from disturbances in midline patterning, neuronal migration, …
Article scientifique
Case Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma
Autoimmune polyendocrine syndrome type-1 (APS1), also known as autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), is an autoimmune genetic disease characterized by multiple …
Article scientifique
A training program to extend the reach of the deciphering developmental disorders in Africa (DDD-Africa) study
Developmental disorders (DD), including intellectual disability (ID) and birth defects, affect approximately 7% of individuals worldwide, contributing to high mortality …
Article scientifique
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry
Background The majority of monogenic inborn errors of immunity presenting as actinopathies were reported originally from the Middle East and …
Article scientifique
Genetic basis of phenotypic diversity in C. stenophylla: a stepping stone for climate-adapted coffee cultivar development
Climate change poses significant challenges to global coffee production, particularly for Arabica coffee, which is constrained by a narrow temperature …
Article scientifique
Case Report: FBN1 mutation screening in South African patients with Marfan syndrome
Marfan syndrome (MFS) is a systemic heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene. Previous studies …
Article scientifique
Estimation of breed composition of South African sheep affected with wet carcass syndrome
Wet carcass syndrome (WCS), a condition that negatively affects the quality of carcasses after slaughter, is seriously threatening the South …
Article scientifique
Leveraging epigenetic aberrations in the pathogenesis of endometriosis: from DNA methylation to non-coding RNAs
Endometriosis is highly underdiagnosed and undertreated gynecological disorder, with diagnosis often delayed by 8-12 years. This delay can have serious …
Article scientifique
Data simulation to optimize frameworks for genome-wide association studies in diverse populations
Whole-genome or genome-wide association studies (GWAS) have become a fundamental part of modern genetic studies and methods for dissecting the …
Article scientifique
NOS3 rs3918188C>A is associated with susceptibility to resistant hypertension while CES1 genetic variation was not associated with resistant hypertension among South Africans
Introduction Genetic variation in genes coding for enzymes metabolising antihypertensive drugs, may affect the efficacy of angiotensin converting enzyme (ACE) …
Article scientifique
Highly multiplexed molecular inversion probe panel in Plasmodium falciparum targeting common SNPs approximates whole-genome sequencing assessments for selection and relatedness
Introduction: The use of next-generation sequencing technologies (NGS) to study parasite populations and their response and evolution to interventions is …
Article scientifique
Genetic association of ACE2 rs2285666 (C>T) and rs2106809 (A>G) and susceptibility to SARS-CoV-2 infection among the Ghanaian population
Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), enters human cells using the angiotensin-converting enzyme 2 (ACE-2) receptor. ACE2 single …
Article scientifique
Genetic estimates and genome-wide association studies of antibody response in Tanzanian dairy cattle
Identifying the genetic determinants of host defence against infectious pathogens is central to enhancing disease resilience and therapeutic efficacy in …
Article scientifique
Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in carcinogenesis
Objectives Unlike other diseases, cancer is not just a genome disease but should broadly be viewed as a disease of …
Article scientifique
Assessment of genetic structure and trait associations of Watkins wheat landraces under Egyptian field conditions
Background: Wheat landraces represent a reservoir of genetic diversity that can support wheat improvement through breeding. A core panel of …
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