Abstract BACKGROUND: Mutations of NFkB1 are a known cause inborn errors immunity resulting in immunodeficiency due to the role as transcriptional regulator immunomodulating proteins. We present patient with diagnosis common variable (CVID), cytopenias massive splenomegaly, and nodular regenerative hyperplasia liver. Our proband, 22-year-old male, presents clinical picture immunodeficiency, has ...

Single-nucleotide polymorphisms (SNPs) are often linked to critical phenotypes such as diseases or responses to vaccines, medications and environmental factors. However, the specific molecular mechanisms by which a causal SNP acts is usually not obvious. Changes in RNA secondary structure emerge as a possible explanation necessitating the development of methods to measure the impact of single-n...

The cytogenetic hallmark of Chronic Myeloid Leukemia (CML) is the presence Philadelphia (Ph) chromosome, which results from a reciprocal translocation t(9;22)(q34;q11). In this report, we describe CML patient with no evidence Ph chromosome but trisomy 8 as single abnormality and typical e14a2 (b3a2) BCR-ABL1 fusion transcript. Fluorescence Situ Hybridization (FISH) analysis revealed an uncommon...

background: ghezel sheep are highly prolific and one of the local sheep breeds in iran and turkey. growth differentiation factor-9 (gdf9) gene has been found to be essential for growth and differentiation of early ovarian follicles. novel mutations in gdf9 have been associated with increased ovulation rates and high litter sizes in heterozygous carriers. therefore, fecundity gene for gdf9 (fecg...

Background: RNA plays key role in many aspects of biological processes and its tertiary structure is critical for its biological function. RNA secondary structure represents various significant portions of RNA tertiary structure. Since the biological function of RNA is concluded indirectly from its primary structure, it would be important to analyze the relations between the RNA sequences and t...