8 Result(s)
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Article
Open AccessHeterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA dama...
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Article
Open AccessDysregulated PDGFR alpha expression and novel somatic mutations in colorectal cancer: association to RAS wild type status and tumor size
Platelet derived growth factor receptor alpha (PDGFRα) has been considered as a relevant factor in tumor proliferation, angiogenesis and metastatic dissemination. It was a target of tyrosine kinase (TK) inhibi...
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Open AccessIdentification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome, characterized by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. Despite several genetic ...
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Article
Open AccessA genome wide SNP genoty** study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci
Breast cancer is the most common cancer in women worldwide. Around 50% of breast cancer familial risk has been so far explained by known susceptibility alleles with variable levels of risk and prevalence. The ...
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Open AccessFamily specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases
A family history of breast cancer has long been thought to indicate the presence of inherited genetic events that predispose to this disease. In North Africa, many specific epidemio-genetic characteristics hav...
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Article
Open AccessFounder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogeni...
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Systems medicine and integrated care to combat chronic noncommunicable diseases
We propose an innovative, integrated, cost-effective health system to combat major non-communicable diseases (NCDs), including cardiovascular, chronic respiratory, metabolic, rheumatologic and neurologic disor...
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Article
Open AccessCoexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports
Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the AR...
