background: wilson disease (wd) is caused by numerous pathogenic mutations of the atp7b gene. there are several mutation screening methods that can be used for the diagnosis and carrier detection of wd, however such methods are costly and time-consuming. therefore, other diagnostic methods should be used for urgent situations such as prenatal diagnosis. objective: to report common polymorphisms...

genetic improvement programs may improve disease resistance in animal production. the best-characterized genetic control of disease resistance and immune response in animals is the one associated with the major histocompatibility complex (mhc). the ovine lymphocyte antigenof drb1 gene encodes cell surface glycoproteins that initiate immune responses by presenting processed antigenic peptides to...

the toll-like receptor 4 (tlr4) is an innate immune protein on cell surfaces that identifies lipopolysaccharide (lps) of gram-negative bacteria. genetic markers associated with innate responses during mastitis could help in selection of cattle to improve disease resistance. the objective of this study was to determine the association between tlr4 gene and clinical mastitis, using selective geno...

The exon junction complex (EJC) is deposited on mRNAs as a consequence of splicing and influences postsplicing mRNA metabolism. The Mago-Y14 heterodimer is a core component of the EJC. Recently, the protein PYM has been identified as an interacting partner of Mago-Y14. Here we show that PYM is a cytoplasmic RNA-binding protein that is excluded from the nucleus by Crm1. PYM interacts directly wi...

severe congenital neutropenia (scn) is a rare primary immunodeficiency. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr. also, recently g6pc3 as a rare gene in scn has been reported. patients with g6pc3 often have cardiac and/or urogenital malformations. two patients with   persistent   severe   neutropenia,   recurrent   infections   and   maturatio...

abstract objective ethylmalonic encephalopathy (ee) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs and vascular lesions including petechial purpura, orthostatic acrocyanosis and chronic hemorrhagic diarrhoea. biochemical hallmarks of the disease are persistently high levels of lactate, and c4–c5-ac...

Dysferlinopathies belong to a phenotypically heterogeneous group of neuromuscular diseases caused by mutations in the DYSF gene, which disrupt expression dysferlin protein human skeletal muscle cells. These pathologies are an autosomal recessive inheritance pattern, their prevalence is 1: 200000. include such as Miyoshi myopathy with primary lesion distal fragments lower extremities and limb-gr...

The major-histocompatibility-complex protein UAP56 (BAT1) is a DEAD-box helicase that is deposited on mRNA during splicing. UAP56 is retained on spliced mRNA in an exon junction complex (EJC) or, alternatively, with the TREX complex at the 5' end, where it might facilitate the export of the spliced mRNA to the cytoplasm. Using confocal microscopy, UAP56 was found to be concentrated in RNA-splic...

In genomic signal processing applications, digitization of these signals is needed to process and analyze DNA signals. the process, mapping technique be chosen greatly affects performance system for domain studied. The purpose this review how numerical techniques used in digitizing sequences affect studies. For purpose, all digital coding presented literature studies conducted last 10 years hav...