background: tumour suppressor genes such as tp53, brca1 and rad51 are involved in dna repair and their malfunctions result in genomic instability and cancer. wild type (wt) tp53 binds to brca1and rad51 in vivo and in vitro. however, mutated tp53 in tumours can interfere with wt tp53 function. we studied how mutation of tp53 in mda-mb-468 cell line could affect its binding capacity and interfere...

BACKGROUND AND OBJECTIVES Given the prognostic relevance that the identification of mutated and germline subgroups of chronic lymphocytic leukemia (CLL) has recently acquired we set out to analyze in depth individual VH gene usage rearrangements in patients with mutated and germline CLL. DESIGN AND METHODS Using sequence analysis of FR1/JH polymerase chain reaction products, the VH immunoglob...

Heteroplasmic mitochondrial DNA (mtDNA) mutations (mutations present only in a subset of cellular mtDNA copies) arise de novo during the normal ageing process or may be maternally inherited in pedigrees with mitochondrial disease syndromes. A pathogenic mtDNA mutation causes respiratory chain deficiency only if the fraction of mutated mtDNA exceeds a certain threshold level. These mutations oft...

Short-chain-length/medium-chain-length (SCL/MCL) polyhydroxyalkanoate (PHA) was produced in the plastids of Arabidopsis thaliana. Phe87Thr (F87T) mutated 3-ketoacyl-acyl carrier protein (ACP) synthase III (FabH) from Escherichia coli , and Ser325Thr/Gln481Lys (ST/QK) mutated polyhydroxyalkanoate (PHA) synthase (PhaC1) from Pseudomonas sp. 61-3, along with the beta-ketothiolase (PhaA) and acetoa...

Recent crystallographic studies have shown that both backbone and side-chain adjustments occur when different core-packing arrangements are accommodated in proteins. Thus, modeling methods, which have typically considered only side-chain adjustments, must now also account for backbone movements to accurately predict the energies and structures of mutated or designed proteins. The 'plasticity' o...

Introduction: Cataract is main cause of reversible blindness and visual impairment. Risk factors include anti-hyperlipidemic drugs such as statin. However, the mechanism statins a risk factor for cataracts not clear. The antioxidant effect statin reported in some studies while other showed negative results. This study was conducted to understand association cataract users with gene abnormalitie...

To clarify whether mantle cell lymphomas (MCLs) are related to naive pre-germinal center B cells (expressing nonmutated rearranged VH genes) or to germinal center-derived memory B cells (expressing mutated rearranged V” genes), clonal IgH gene rearrangements using DNA from six MCLs were polymerase chain reaction (PCR)-amplified and analyzed for the presence of somatic mutations. For comparison,...

Recent studies on the immunoglobulin variable heavy chain (IgV(H)) genes have revealed that B-cell chronic lymphocytic leukemia (B-CLL) consists of at least 2 clinical entities with either somatically mutated or unmutated V(H) genes. We have analyzed the V(H) gene mutation status and V(H) gene usage in 119 B-CLL cases and correlated them to overall survival. A novel finding was the preferential...

BACKGROUND AND OBJECTIVES The immunoglobulin VH gene mutation status is a strong prognostic indicator in B-cell chronic lymphocytic leukemia (CLL), since unmutated VH genes are correlated with short survival. However, the traditional cut-off level dividing mutated and unmutated cases, i.e. more or less than 2% mutations, has been questioned and other cut-offs have been suggested. We investigate...