36 publication(s) trouvée(s)
Article scientifique
Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation
BACKGROUND: Li-Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is characterized …
Article scientifique
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
BACKGROUND: Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis …
Erratum
Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
An amendment to this paper has been published and can be accessed via a link at the top of the …
Article scientifique
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
BACKGROUND: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase (FUCA1) activity, leading to the accumulation of …
Article scientifique
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
BACKGROUND: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in …
Article scientifique
Transcriptomic biomarker pathways associated with death in HIV-infected patients with cryptococcal meningitis
BACKGROUND: Cryptococcal meningitis (CM) is a major cause of death in HIV-infected patients in sub-Saharan Africa. Many CM patients experience …
Article scientifique
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
BACKGROUND: Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited …
Article scientifique
TERT rs2736100 and TERC rs16847897 genotypes moderate the association between internalizing mental disorders and accelerated telomere length attrition among HIV+ children and adolescents in Uganda
BACKGROUND: Internalizing mental disorders (IMDs) (depression, anxiety and post-traumatic stress disorder) have been associated with accelerated telomere length (TL) attrition; …
Article scientifique
Identification of genes and miRNA associated with idiopathic recurrent pregnancy loss: an exploratory data mining study
BACKGROUND: Recurrent pregnancy loss (RPL) is a significant adverse pregnancy complication, with an incompletely understood pathology. While many entities were …
Article scientifique
Potential risks and solutions for sharing genome summary data from African populations
Genome data from African population can substantially assist the global effort to identify aetiological genetic variants, but open access to …
Article scientifique
Gene expression profiling in blood from cerebral malaria patients and mild malaria patients living in Senegal
BACKGROUND: Plasmodium falciparum malaria remains a major health problem in Africa. The mechanisms of pathogenesis are not fully understood. Transcriptomic …
Article scientifique
FTO haplotyping underlines high obesity risk for European populations
BACKGROUND: Fat mass and obesity-associated (FTO) gene has been under close investigation since the discovery of its high impact on …
Article scientifique
Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort
Cardiovascular diseases (CVDs) are the leading cause of non-communicable disease deaths globally, with hypertension being a major risk factor contributing …
Article scientifique
Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects
BACKGROUND: Ritodrine is a commonly used tocolytic to prevent preterm labour. However, it can cause unexpected serious adverse reactions, such …
Article scientifique
In silico identification of potential key regulatory factors in smoking-induced lung cancer
BACKGROUND: Lung cancer is a leading cause of cancer-related death worldwide and is the most commonly diagnosed cancer. Like other …
Article scientifique
Evolution of Translational Bioinformatics: lessons learned from TBC 2016
Translational bioinformatics (TBI) is a relatively young discipline that spans a wide spectrum from data to diagnostics and therapeutics. TBI …
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