36 publication(s) trouvée(s)
Article scientifique
Genome-to-genome analysis reveals associations between human and mycobacterial genetic variation in tuberculosis patients from Tanzania
The risk and prognosis of tuberculosis (TB) are influenced by a complex interplay between human and bacterial genetic factors. While …
Article scientifique
Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda
BACKGROUND: In 30% of patients who exhibit the clinical profile of Cornelia de Lange Syndrome (CdLS), the genetic cause remains …
Article scientifique
N6-methyladenosine RNA base modification regulates NKG2D-dependent and cytotoxic genes expression in natural killer cells
Abstract Background Breast cancer (BC) is the most commonly diagnosed cancer in women. N6-methyladenosine (m6A) is the most prevalent internal …
Article scientifique
Genomic detection of Panton-Valentine Leucocidins encoding genes, virulence factors and distribution of antiseptic resistance determinants among Methicillin-resistant S. aureus isolates from patients attending regional referral hospitals in Tanzania
BACKGROUND: Methicillin-resistant Staphylococcus aureus (MRSA) is a formidable public scourge causing worldwide mild to severe life-threatening infections. The ability of …
Article scientifique
Towards genomic medicine: a tailored next-generation sequencing panel for hydroxyurea pharmacogenomics in Tanzania
BACKGROUND: Pharmacogenomics of hydroxyurea is an important aspect in the management of sickle cell disease (SCD), especially in the era …
Article scientifique
Short reads-based characterization of pathotype diversity and drug resistance among Escherichia coli isolated from patients attending regional referral hospitals in Tanzania
BACKGROUND: Escherichia coli is known to cause about 2 million deaths annually of which diarrhea infection is leading and typically …
Article scientifique
Correction to: Association of IL-10-592 C > A /-1082 A > G and the TNFα -308 G > A with susceptibility to COVID-19 and clinical outcomes
Article scientifique
Contribution of HLA class I (A, B, C) and HLA class II (DRB1, DQA1, DQB1) alleles and haplotypes in exploring ethnic origin of central Tunisians
BACKGROUND: Estimation of HLA (Human leukocyte Antigen) alleles' frequencies in populations is essential to explore their ethnic origin. Anthropologic studies …
Article scientifique
Vitamin D receptor rs3782905 and vitamin D binding protein rs7041 polymorphisms are associated with hepatocellular carcinoma susceptibility in cirrhotic HCV patients
BACKGROUND: The severity of chronic hepatitis C and susceptibility to hepatocellular carcinoma (HCC) are associated with genetic variations within vitamin …
Article scientifique
Biochemical markers and FokI and TaqI vitamin D receptor genes polymorphism in rheumatoid arthritis
BACKGROUND: Previous studies have reported the role of genes in different metabolic processes in the human body, and any variation …
Article scientifique
Association of HLA-DRB1*11 and HLA-DRB1*12 gene polymorphism with COVID-19 in Burkina Faso
BACKGROUND: The clinical manifestations of coronavirus disease (COVID-19) can vary widely, ranging from asymptomatic to severe, and may be influenced …
Article scientifique
Pharmacogenetic analysis of inter-ethnic variability in the uptake transporter SLCO1B1 gene in Colombian, Mozambican, and Portuguese populations
BACKGROUND: Statin-induced myopathy is reported to be associated with the solute carrier organic anion transporter family member 1B1 gene single …
Article scientifique
Association of integrin-β2 polymorphism and expression with the risk of rheumatoid arthritis and osteoarthritis in Egyptian patients
BACKGROUND: The genetic architecture of rheumatoid arthritis (RA) and osteoarthritis (OA) are still unclear. Although RA and OA have quite …
Article scientifique
Association of A1AT genetic polymorphism and NSCLC: a case- control study in Egyptian population
BACKGROUND: Lung cancer mortality is higher than other forms of cancer. Genetic tendencies in cancer patients have long been known. …
Article scientifique
Vitamin D receptor gene polymorphism and polycystic ovary syndrome susceptibility
Abstract Background Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. This study was designed to investigate the …
Article scientifique
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana
BACKGROUND: Childhood hearing impairment (HI) is genetically heterogeneous with many implicated genes, however, only a few of these genes are …
Article scientifique
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
BACKGROUND: The etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual …
Article scientifique
Impact of the interaction between the polymorphisms and hypermethylation of the CD36 gene on a new biomarker of type 2 diabetes mellitus: circulating soluble CD36 (sCD36) in Senegalese females
BACKGROUND: Several predisposing factors for diabetes mellitus have been identified, including cluster determinant 36 (CD36) receptor expression. We aimed to …
Article scientifique
Carriage of mutations R462Q (rs 486907) and D541E (rs 627928) of the RNASEL gene and risk factors in patients with prostate cancer in Burkina Faso
BACKGROUND: Prostate cancer (Pca) is a public health problem that affects men, usually of middle age or older. It is …
Article scientifique
High level of heterozygous haplotype of hemoglobin in Abidjan population with mild malaria
BACKGROUND: Sickle cell disease (SCD) is a hemoglobin disorders that concern 300,000 newborns each year around the world. There are …
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