Genomes and Genes
Experts and Doctors on base sequence in Sfax, Şafāqis, Tunisia
Locale: Sfax, Şafāqis, Tunisia
Topic: base sequence
- Fendri A, Frikha F, Mosbah H, Miled N, Zouari N, Bacha A, et al. Biochemical characterization, cloning, and molecular modelling of chicken pancreatic lipase. Arch Biochem Biophys. 2006;451:149-59 pubmed
- Mnif B, Boujelbène I, Mahjoubi F, Gdoura R, Trabelsi I, Moalla S, et al. Endocarditis due to Kytococcus schroeteri: case report and review of the literature. J Clin Microbiol. 2006;44:1187-9 pubmed..Three cases of K. schroeteri endocarditis described within a short period of time might indicate a specific pathogenicity of this new species. The isolation of kytococci from normally sterile sites should not be overlooked...
- Louhichi N, Medhaffar M, Hadjsalem I, Mkaouar Rebai E, Fendri Kriaa N, Kanoun H, et al. Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect. Ann Hematol. 2010;89:499-504 pubmed publisher..The identification of the founder mutation and polymorphisms allowed a genetic counseling in relatives of these families, and the antenatal diagnosis is now available. ..
- Hadj Salem I, Kamoun F, Louhichi N, Rouis S, Mziou M, Fendri Kriaa N, et al. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies. Biosci Rep. 2011;31:125-35 pubmed publisher..Our results indicate that mRNA analysis is necessary to clarify the primary effect of genomic mutations on splicing efficiency that alters mRNA processing and expression level. ..
- Karray A, Frikha F, Ben Ali Y, Gargouri Y, Bezzine S. Purification and biochemical characterization of a secreted group IIA chicken intestinal phospholipase A?. Lipids Health Dis. 2011;10:27 pubmed publisher..Sequence analysis of the cloned cDNA indicates that the enzyme is highly basic with a pI of 9.0 and has a high degree of homology with mammalian intestinal PLA?-IIA...
- Driss F, Kallassy Awad M, Zouari N, Jaoua S. Molecular characterization of a novel chitinase from Bacillus thuringiensis subsp. kurstaki. J Appl Microbiol. 2005;99:945-53 pubmed..coli. The addition of the sequence of chi255 to the few sequenced B. thuringiensis chi genes might contribute to a better investigation of the chitinase 'structure-function' relation. ..
- Brini F, Gaxiola R, Berkowitz G, Masmoudi K. Cloning and characterization of a wheat vacuolar cation/proton antiporter and pyrophosphatase proton pump. Plant Physiol Biochem. 2005;43:347-54 pubmed
- Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, et al. Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol. 2003;120:351-5 pubmed..Four ancestral haplotypes were observed in 69 patients from countries around the Mediterranean basin, and an additional haplotype was found in the German and Scottish patients. ..
- Trifa F, Karray Chouayekh S, Jmaa Z, Jmal E, Khabir A, Sellami Boudawara T, et al. Frequent CpG methylation of ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) in sporadic and hereditary Tunisian breast cancer patients: clinical significance. Med Oncol. 2013;30:418 pubmed publisher..001). On the other hand, the UCHL1 unmethylated pattern correlated with P53 positivity in primary sporadic tumors (P = 0.032), supporting the functional link between the two tumor suppressors in breast tumorigenesis. ..
- Kallabi F, Ellouz E, Tabebi M, Ben Salah G, Kaabechi N, Keskes L, et al. Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation. Clin Chim Acta. 2016;453:141-6 pubmed publisher..947A>C in both siblings, they present different clinical signs. Based on the disease's progress, the clinical signs and biochemical aspects between the two siblings, we demonstrate that there is no correlation genotype-phenotype. ..