PURPOSE To explore the etiologic role of genetic variants in telomere pathway genes and breast cancer risk. METHODS A population-based case-control study, the Long Island Breast Cancer Study Project, was conducted, and 1,067 cases and 1,110 controls were included in the present study. Fifty-two genetic variants of nine telomere-related genes were genotyped. RESULTS Seven single nucleotide p...

Robust analytical methods were developed for the determination of eight emerging synthetic phenolic antioxidants (SPAs) and three metabolites in sewage sludge, effluent and river water matrices. Accelerated solvent extraction was employed for the extraction of the target analytes from sludge, dichloromethane/hexane=3:1 (extraction solvent) and 90°C (extraction temperature) were used after optim...

Human telomeres are maintained by the enzyme telomerase, which uses a template within its integral RNA subunit (hTR) and telomerase reverse transcriptase protein (TERT) to accomplish the synthesis of single-stranded DNA repeats. Many questions remain unresolved about the cellular regulation of telomerase subunits and the fully assembled telomerase holoenzyme, including the basis for the specifi...

The reactions of [(thf)2TiCl4] with sodiated 2,2’-bis[2-hydroxy-3,5-di(tert-butyl)benzylideneamino]-1,1’-biphenyl (1 a) and 2,2’-bis[2-hydroxy-3,5-di(tert-butyl)benzylideneamino]-4,4’-dimethyl-1,1’-biphenyl b) yield the corresponding Ti complexes 2 a b. Similarly, 1 reacts [(thf)2ZrCl4] to Zr derivative 3. For a, mixture cis-β trans isomers were observed in solution whereas congener exclusively...

In this work, the fast remediation of tert-butyl mercaptan from the polluted soil via a bimetallic Fenton treatment that included Fe2+/Fe3+/Fe0/Cu2+ in the presence of gasoline was studied. The analysis of variance and the Pareto analysis resulting from the central composite design (CCD) showed that the H2O2, CuSO4<...

Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased predisposition to malignancy. X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) have been found in autosomal dominant DC. Many patients with DC remain ...

Telomerase, which maintains the ends of chromosomes, consists of two core components, the telomerase reverse transcriptase (TERT) and the telomerase RNA (TERC). Haploinsufficiency for TERC or TERT leads to progressive telomere shortening and autosomal dominant dyskeratosis congenita (DC). The clinical manifestations of autosomal dominant DC are thought to occur when telomeres become critically ...

O-tert-Butyltyrosine (Tby) is an unnatural amino acid that can be site-specifically incorporated into proteins using established orthogonal aminoacyl-tRNA synthetase/tRNA systems. Here we show that the tert-butyl group presents an outstanding NMR tag that can readily be observed in one-dimensional (1)H NMR spectra without any isotope labeling. Owing to rapid bond rotations and the chemical equi...

Telomerase reverse transcriptase gene (TERT) promoter mutations are identified in many malignancies but not in hematological malignancies. Here we analyzed TERT and protection of telomeres 1 gene (POT1) mutations, and four different TERT SNVs in 226 acute myeloid leukemia (AML) patients and 806 healthy individuals in a case referent design, where also overall survival was assessed. A significan...