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75% of Hypoxanthine-guanine phosphoribosyltransferase (HPRT)-deficiency carrier females presented skewed X chromosome inactivation (XCI) . Moreover, skewed XCI is significantly more frequent in Lesch-Nyhan disease (LND) carriers (83%) than in Lesch-Nyhan variant (LNV, 0-50%, depending on the phenotype severity).
mutation in the human HPRT1 gene and the Lesch-Nyhan disease
Lesch-Nyhan disease in two families from Chiloe Island with mutations in the HPRT1 gene
The results suggest that no singular distal regulatory element is required for HPRT1 expression and that distal mutations are unlikely to contribute substantially to Lesch-Nyhan syndrome burden.
product release from these HsHGPRT and PfHGXPRT
A missense mutation in exon 6 of the coding region of the HPRT1 gene contributes to Lesch-Nyhan Syndrome.
A novel duplication mutation (c.372dupT, c.372_374 TTT > c.372_375 TTTT) was identified in exon 4 of the HPRT1, which causes aberrant splicing.
Three novel independent mutations in the coding region of the HPRT1 gene are responsible for the HPRT1 deficiency.
HPRTYale variant was identified as pathogenic in a family affected with Lesch-Nyhan syndrome.
Pseudogene-free amplification of HPRT1 in quantitative reverse transcriptase polymerase chain reaction.
HPRT gene mutation assay demonstrated that surface chemical composition plays a significant role in silver nanoparticle toxicity.
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene
A highly significant correlation between six metabolites and the HGprt deficiency was established, each of them providing an easily measurable marker of the disease.
HPRT mutations are not increased by systemic depleted uranium exposure.
13 novel mutations in Saudi Arabian HPRT-related hyperuricemia patients manifesting different levels of uric acid.
HPRT1 mutations in new Japanese families and PRPP concentration
Our studies suggest that the p.Leu68Pro mutation has a strong impact on PRPP binding and on stability of the active conformation.
In the study presented here, for the first time T-705/favipiravir absolutely depends on the cellular HGPRT enzyme to exert its anti-influenza virus activity in mammalian cells.
Molecular genetic testing revealed a new frameshift mutation in the HPRT1 gene causing Lesch-Nyhan syndrome in an Indian family.
study reports three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three Lesch-Nyhan syndrome affected male patients
The HGprt deficiency in mice is associated with a decrease in colon contractility.
This study showed that in HPRT knockout mouse brain did not find any abnormalities change Neurotransmitter and their metabolite concentrations.
six metabolites with significantly different contents in wild-type and HPRT-deficient mice, were found.
In the HGprt-deficient mouse model, stains for tyrosine hydroxylase (TH) reveal no obvious loss of midbrain dopamine neurons, but quantitative immunoblots reveal reduced TH expression in the striatum.
HPRT-deficiency alters cAMP/PKA signaling pathway, which is in part due to the increased of PDE10A expression and activi
Hprt is proposed as a reference gene for analysis of gene expression in neural developmental issues of the murine neocortex.
Data indicate that Ubc and Ywhaz were best correlated for cB cells and lymphocytes, whereas Ubc and Gapdh were the best combination for non-B cells, and Actb and Hprt1 were the least stably expressed genes for B cells and non-B cell.
Data indicate that Hprt, Rpl13a and Tpt1 are a set of stably expressed reference genes for accurate gene expression normalization in myocardial infarction studies in mice.
These results demonstrate that PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
ionizing radiation-induced mutant phenotype plasticity is not dependent on DNA methylation of the hypoxanthine phosphoribosyl transferase gene in mouse FM3A cells
the characterization of Hprt mutations in vivo in Blm hypomorphic mice
Hprt mutant frequencies were determined in aging male rats on caloric restriction diets.
Study suggests that mice chronically treated with azathioprine have elevated Hprt mutations due to clonal amplification of Hprt mutants.
In order to determine the effect of Pms2-deficiency on mutation, mutant frequencies in the endogenous Hprt gene of lymphocytes from male Pms2(-/-), Pms2(+/-), and Pms2(+/+) mice, was measured.
These results suggest that dopamine loss in HPRT deficiency has a biochemical rather than anatomical basis and imply that purine recycling to be a biochemical process of particular importance to the function of dopaminergic neurons.
genetic consequences of a primary HPRT knockout in the mouse produces transcriptional aberrations in a number of other genes that may play a role in the disease phenotype
Purine recycling is an intrinsic metabolic process crucial to the molecular phenotype of dopaminergic neurons independent of previously established mechanisms involving energy failure, oxidative stress, or proteasome dysfunction.
NAD concentration and enzyme activities were found to be significantly increased in liver, but not in brain or blood of HPRT knockout mice.
HPRT deficiency influences the development of dopamine neurons and their neurochemical phenotype.
levels of G6PD and HPRT RNA were higher in female morulae and blastocysts than in males
The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.
, hypoxanthine-guanine phosphoribosyltransferase
, HPRT B
, hypoxanthine guanine phosphoribosyl transferase 1
, hypoxanthine phosphoribosyl transferase
, hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
, hypoxanthine phosphoribosyltransferase 1 [(Lesch-Nyhan syndrome)
, hypoxanthine guanine phosphoribosyl transferase
, phosphoribosyl transferase domain containing 1
, hypoxanthine-guanine phosphoribosyltransferase 1
, hypoxanthine guanine phosphoribosyltransferase 1
, hypoxanthine-guanine phosphoribosyltransferas-like protein