1. Absence of family history and phenotype-genotype correlation in pediatric Brugada syndrome: more burden to bear in clinical and genetic diagnosis.

    Pediatric Cardiology 36(5):1090 (2015) PMID 25758664

    Brugada syndrome (BrS) is an autosomal-dominant genetic cardiac disorder caused in 18-30 % of the cases by SCN5A gene mutations and manifested by an atypical right bundle block pattern with ST segment elevation and T wave inversion in the right precordial leads. The syndrome is usually detected ...
  2. Regulation of SCN5A by microRNAs: miR-219 modulates SCN5A transcript expression and the effects of flecainide intoxication in mice.

    Heart Rhythm 12(6):1333 (2015) PMID 25701775

    The human cardiac action potential in atrial and ventricular cells is initiated by a fast-activating, fast-inactivating sodium current generated by the SCN5A/Nav1.5 channel in association with its β1/SCN1B subunit. The role of Nav1.5 in the etiology of many cardiac diseases strongly suggests tha...
  3. Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.

    Clinical Nephrology 81(2):142 (2014) PMID 22854161

    Few data regarding molecular diagnosis of primary distal renal tubular acidosis (DRTA) in Tunisian population are available. 25-day-old male patient from consanguineous parents of Tunisian origin diagnosed with DRTA and without hearing impairment observed later in life. ATP6V0A4 gene sequencing ...
  4. Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.

    Clinical Nephrology 81(2):142 (2014) PMID 22854161

    Few data regarding molecular diagnosis of primary distal renal tubular acidosis (DRTA) in Tunisian population are available. 25-day-old male patient from consanguineous parents of Tunisian origin diagnosed with DRTA and without hearing impairment observed later in life. ATP6V0A4 gene sequencing ...
  5. PCR-based screening for the most prevalent alpha 1 antitrypsin deficiency mutations (PI S, Z, and Mmalton) in COPD patients from Eastern Tunisia.

    Biochemical Genetics 51(9-10):677 (2013) PMID 23666394

    It is generally agreed that the protease inhibitor (PI) alleles PI*S (Val264Glu) and PI*Z (Lys342Glu) are the most common alpha 1 antitrypsin deficiency variants worldwide, but the PI*Mmalton allele (ΔPhe52) prevails over these variants in some Mediterranean regions. In eastern Tunisia (Mahdia),...
  6. PCR-based screening for the most prevalent alpha 1 antitrypsin deficiency mutations (PI S, Z, and Mmalton) in COPD patients from Eastern Tunisia.

    Biochemical Genetics 51(9-10):677 (2013) PMID 23666394

    It is generally agreed that the protease inhibitor (PI) alleles PI*S (Val264Glu) and PI*Z (Lys342Glu) are the most common alpha 1 antitrypsin deficiency variants worldwide, but the PI*Mmalton allele (ΔPhe52) prevails over these variants in some Mediterranean regions. In eastern Tunisia (Mahdia),...
  7. Relationship betweenGSTM1andGSTT1polymorphisms and schizophrenia: A case–control study in a Tunisian population

    Gene 512(2):282 (2013)

    There is substantial evidence found in the literature that supports the fact that the presence of oxidative stress may play an important role in the pathophysiology of schizophrenia. The glutathione S-transferases (GSTs) forms one of the major detoxifying groups of enzymes responsible ...
  8. Relationship between GSTM1 and GSTT1 polymorphisms and schizophrenia: a case-control study in a Tunisian population.

    Gene 512(2):282 (2013) PMID 23107768

    There is substantial evidence found in the literature that supports the fact that the presence of oxidative stress may play an important role in the pathophysiology of schizophrenia. The glutathione S-transferases (GSTs) forms one of the major detoxifying groups of enzymes responsible for elimin...
  9. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.

    BMC Medical Genetics 14:119 (2013) PMID 24252324 PMCID PMC4225572

    Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may ...
  10. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.

    BMC Medical Genetics 14:119 (2013) PMID 24252324 PMCID PMC4225572

    Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may ...
  11. Polymorphism of C3 complement in association with myocardial infarction in a sample of central Tunisia.

    Diagnostic Pathology 8:93 (2013) PMID 23764154 PMCID PMC3931526

    Myocardial infarction (MI) is a major clinical problem because of its large contribution to mortality. The genetic bases of this disease have been widely studied in recent years to find a clear association with some genetic markers that increase the risk of its occurrence. In the present investi...
  12. Polymorphism of C3 complement in association with myocardial infarction in a sample of central Tunisia.

    Diagnostic Pathology 8:93 (2013) PMID 23764154 PMCID PMC3931526

    Myocardial infarction (MI) is a major clinical problem because of its large contribution to mortality. The genetic bases of this disease have been widely studied in recent years to find a clear association with some genetic markers that increase the risk of its occurrence. In the present investi...
  13. Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis.

    Blood Cells, Molecules, and Diseases 47(3):158 (2011) PMID 21839655

    Complete loss of protein 4.1R in red blood cell membrane is a very rare condition in humans. We here explore the third case. The morphological and biochemical observations suggested that the proband suffers from homozygous hereditary elliptocytosis. Both parents, who are consanguineous, have an ...
  14. Update in chronic obstructive pulmonary disease: role of antioxidant and metabolizing gene polymorphisms.

    Experimental Lung Research 37(6):364 (2011) PMID 21721950

    Chronic obstructive pulmonary disease (COPD) is characterized by systemic and local chronic inflammation and oxidative stress. The sources of the increased oxidative stress in COPD patients derive from the increased burden of inhaled oxidants such as cigarette smoke and other forms of particulat...
  15. Update in chronic obstructive pulmonary disease: role of antioxidant and metabolizing gene polymorphisms.

    Experimental Lung Research 37(6):364 (2011) PMID 21721950

    Chronic obstructive pulmonary disease (COPD) is characterized by systemic and local chronic inflammation and oxidative stress. The sources of the increased oxidative stress in COPD patients derive from the increased burden of inhaled oxidants such as cigarette smoke and other forms of particulat...
  16. Atypical hemolytic uremic syndrome in the Tunisian population.

    International Urology and Nephrology 43(2):559 (2011) PMID 20499172

    Hemolytic uremic syndrome consists of a triad of acquired hemolytic anemia, thrombocytopenia and renal failure. Our objectives were to determine epidemiology, clinical and laboratory characteristics of patients with atypical hemolytic uremic syndrome (aHUS) to determine the relationship between ...
  17. Atypical hemolytic uremic syndrome in the Tunisian population.

    International Urology and Nephrology 43(2):559 (2011) PMID 20499172

    Hemolytic uremic syndrome consists of a triad of acquired hemolytic anemia, thrombocytopenia and renal failure. Our objectives were to determine epidemiology, clinical and laboratory characteristics of patients with atypical hemolytic uremic syndrome (aHUS) to determine the relationship between ...
  18. Correlation of EPHX1, GSTP1, GSTM1, and GSTT1 genetic polymorphisms with antioxidative stress markers in chronic obstructive pulmonary disease.

    Experimental Lung Research 37(4):195 (2011) PMID 21309732

    This study was undertaken to ascertain if a relationship existed between oxidative status and polymorphisms of microsomal epoxide hydrolase X1 (EPHX1), glutathione S-transferase P1 (GSTP1), GSTM1, and GSTT1 in chronic obstructive pulmonary disease (COPD). Erythrocyte glutathione peroxidase (GSH-...
  19. Correlation of EPHX1, GSTP1, GSTM1, and GSTT1 genetic polymorphisms with antioxidative stress markers in chronic obstructive pulmonary disease.

    Experimental Lung Research 37(4):195 (2011) PMID 21309732

    This study was undertaken to ascertain if a relationship existed between oxidative status and polymorphisms of microsomal epoxide hydrolase X1 (EPHX1), glutathione S-transferase P1 (GSTP1), GSTM1, and GSTT1 in chronic obstructive pulmonary disease (COPD). Erythrocyte glutathione peroxidase (GSH-...
  20. Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a β0-thalassemia chromosome.

    Blood Cells, Molecules, and Diseases 46(2):133 (2011) PMID 21144779

    The -158 (C→T) nucleotide change, known as Xmn I polymorphism, occurs in (G)γ-globin gene promoter, and results in elevated fetal hemoglobin (HbF). We found this mutation in cis of a β(0)-thalassemia splicing mutation. Despite the complete absence of adult HbA, the phenotype was only moderately ...