Novel mutation in HPRT1 causing a splicing error with multiple variations
Sign Up to like & getrecommendations! Published in 2017 at "Nucleosides, Nucleotides and Nucleic Acids"
DOI: 10.1080/15257770.2016.1163381
Abstract: ABSTRACT Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine–guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported… read more here.
Keywords: splicing error; novel mutation; hprt1; mutation hprt1 ... See more keywords
Selection of Suitable Internal Control Genes for Accurate Normalization of Real-Time Quantitative PCR Data of Buffalo (Bubalus bubalis) Blastocysts Produced by SCNT and IVF.
Sign Up to like & getrecommendations! Published in 2017 at "Cellular reprogramming"
DOI: 10.1089/cell.2017.0010
Abstract: We evaluated the suitability of 10 candidate internal control genes (ICGs), belonging to different functional classes, namely ACTB, EEF1A1, GAPDH, HPRT1, HMBS, RPS15, RPS18, RPS23, SDHA, and UBC for normalizing the real-time quantitative polymerase chain… read more here.
Keywords: real time; ivf blastocysts; cloned ivf; control genes ... See more keywords
Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia
Sign Up to like & getrecommendations! Published in 2022 at "Brain"
DOI: 10.1093/brain/awac439
Abstract: Abstract There is a lack of imaging markers revealing the functional characteristics of different brain regions in paediatric dystonia. In this observational study, we assessed the utility of [18F]2-fluoro-2-deoxy-D-glucose (FDG)-PET in understanding dystonia pathophysiology by… read more here.
Keywords: paediatric dystonia; brain; glucose hypometabolism; hprt1 ... See more keywords
Metabolism-Related Bioinformatics Analysis Reveals That HPRT1 Facilitates the Progression of Oral Squamous Cell Carcinoma In Vitro
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Oncology"
DOI: 10.1155/2022/7453185
Abstract: Objectives Many studies have shown that dysregulation of metabolism contributes to oncogenesis. However, the exact roles of metabolism-related genes (MRGs) in oral squamous cell carcinoma (OSCC) remain unclear. Thus, we aimed to identify a prognostic… read more here.
Keywords: metabolism; oscc; metabolism related; hprt1 ... See more keywords