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View Article and Find Full Text PDFIntroduction: Apoptosis deregulation have been associated to tumorigenesis process and was highlighted as a prominent hallmark of cancer. Several mutations have been reported in several forms of Blood cancer. However, it has never been investigated in familial aggregations of hematological malignancies.
View Article and Find Full Text PDFGenetic predisposition has been always noted in the context of familial hematological malignancies. Epidemiological studies have provided evidence consisting of an increased risk to develop blood cancer in relatives diagnosed with the same pathology and characterized by early age at diagnosis and higher severity compared to sporadic forms. With the emergence of new genomic testing approaches, the prevalence of familial aggregations of hematological malignancies seems to be under estimated.
View Article and Find Full Text PDFPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease caused by the structural abnormalities and dysfunction of motile cilia. The is the most frequently mutated gene in PCD patients and hot spot exons were reported in this gene. Here, we aim to screen mutations in a set of five hot spot exons of gene in a cohort of 10 clinically diagnosed Tunisian PCD patients using an optimized polymerase chain reaction-single-strand conformational polymorphism screening technique.
View Article and Find Full Text PDFPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients.
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