32 research outputs found
Synthesis of 2-[(4-amino or 2,4-diaminophenyl)sulfonyl] derivatives of benzimidazole, benzothiazole and 6-methyluracil as potential antimicrobial agents
904-91
Medicinal plants – prophylactic and therapeutic options for gastrointestinal and respiratory diseases in calves and piglets? A systematic review
Crystal structure of bis(triphenylmethylphosphonium) iodide thiocyanate semihydrate, ((C 6
Resonance Raman spectrum of triiodide complex formed in the reaction of iodine with 1,4,8, 11-tetraazacyclotetradecane
73-74The resonance Raman spectrum of the solid complex formed in the reaction of 1,4,8,11-tetraazacyclotetradecane (TACTD) with iodine exhibits characteristic bands of the triiodide ion, (I) at 147, 108 and 85 cm-1 assignable to vas(I- I), vs(I - I) and δ(I) modes, respectively. The formed complex is best described as [(TACTD)]+. I.</strong
Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome
Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be caused by missense mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene, which encodes src homology region 2 domain containing tyrosine phosphatase-2 (SHP-2), a protein tyrosine phosphatase that acts in signal transduction downstream to growth factors and cytokines. The current study aimed to study the molecular characterization of the PTPN11 gene among Egyptian patients with Noonan syndrome.
Methods: Eleven exons of the PTPN11 gene were amplified and screened by single stranded conformational polymorphism (SSCP). DNA samples showing band shift in SSCP were subjected to sequencing.
Results: Mutational analysis of the PTPN11 gene revealed T→C transition at position 854 in exon 8, predicting Phe285Ser substitution within PTP domain of SHP-2 protein, in one NS patient and –21C→T polymorphism in intron 7 in four other cases.
Conclusion: Knowing that NS is phenotypically heterogeneous, molecular characterization of the PTPN11 gene should serve to establish NS diagnosis in patients with atypical features, although lack of a mutation does not exclude the possibility of NS