Due to the genetic mutation (fa) in gene encoding for leptin receptor, homozygous Zucker rats (fa−/−) develop excessive adiposity and become an experimental animal model obesity metabolic-related diseases research. Based on tetra-primer amplification refractory system-polymerase chain reaction (ARMS-PCR), we developed a method quickly genotype with mutated fa allele from their wildtype litterma...

Additional sex combs-like 1 (ASXL1) is a well‑known tumor suppressor gene and epigenetic modifier. ASXL1 mutations are frequent in myeloid malignances; these mutations are risk factors for the development of myelodysplasia and also appear as small clones during normal aging. ASXL1 appears to act as an epigenetic regulator of cell survival and myeloid differentiation; however, the molecular mech...

Cystic fibrosis (CF) is an autosomal recessive disorder and caused by variants in the Fibrosis Transmembrane Conductance Regulator (CFTR) gene. We aimed to study frequency of F508del variant, most common variant worldwide, patients with CF from Paraguay. The Paraguayan a clinical diagnosis was assessed using polymerase chain reaction followed sequencing PCR products. 43 86 (50%) were homozygous...

UNLABELLED THE AIM of the study was to evaluate the frequency of IGHV3-21 gene usage and its clinical significance for patients with B-cell chronic lymphocytic leukemia (CLL) in Ukraine. PATIENTS AND METHODS Immunoglobulin variable heavy chain (IGHV) gene repertoire was studied in 189 CLL patients using reverse transcribed polymerase chain reaction and direct sequence of amplified products. ...

The small ubiquitin-related modifier (SUMO) conjugation apparatus usually attaches single SUMO moieties to its substrates, but SUMO chains have also been identified. To better define the biochemical requirements and characteristics of SUMO chain formation, mutations in surface-exposed Lys residues of Arabidopsis SUMO-conjugating enzyme (SCE) were tested for in vitro activity. Lys-to-Arg changes...

Patients with Sjögren's syndrome (SS) have characteristic lymphocytic infiltrates of the salivary glands. To determine whether the B cells accumulating in the salivary glands of SS patients represent a distinct population and to delineate their potential immunopathologic impact, individual B cells obtained from the parotid gland and from the peripheral blood were analyzed for immunoglobulin lig...

Kinetic parameters are reported for the reactions of whole substrates (kcat/Km, M(-1) s(-1)) (R)-glyceraldehyde 3-phosphate (GAP) and dihydroxyacetone phosphate (DHAP) and for the substrate pieces [(kcat/Km)E·HPi/Kd, M(-2) s(-1)] glycolaldehyde (GA) and phosphite dianion (HPi) catalyzed by the I172A/L232A mutant of triosephosphate isomerase from Trypanosoma brucei brucei (TbbTIM). A comparison ...

results the number of s. pneumoniae isolates resistant to benzylpenicillin, imipenem, oxacillin and ceftazidime were 94.5%, 100%, 100%, and 21.8%, respectively. analysis of mutation in the genes for pbp showed that 85% of isolates had mutations in pbp2x, pbp2b and pbp1a. susceptibility to benzylpenicillin was decreased once the number of mutated pbp genes in s. pneumonia increased. according to...