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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 (zeige CMTM7 Proteine), 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.
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.
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
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 (zeige TH Proteine)) 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 (zeige PDE10A Proteine) 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 (zeige UBA52 Proteine) and Ywhaz (zeige YWHAZ Proteine) were best correlated for cB cells and lymphocytes, whereas Ubc (zeige UBA52 Proteine) and Gapdh (zeige GAPDH Proteine) were the best combination for non-B cells, and Actb (zeige ACTB Proteine) and Hprt1 were the least stably expressed genes for B cells and non-B cell.
Data indicate that Hprt, Rpl13a (zeige RPL13A Proteine) and Tpt1 (zeige TPT1 Proteine) are a set of stably expressed reference genes for accurate gene expression normalization in myocardial infarction studies in mice.
These results demonstrate that PRTFDC1 (zeige PRTFDC1 Proteine) is a genetic modifier of HPRT-deficiency in the mouse.
ionizing radiation-induced mutant phenotype plasticity is not dependent on DNA methylation (zeige HELLS Proteine) of the hypoxanthine phosphoribosyl transferase gene in mouse FM3A cells
the characterization of Hprt mutations in vivo in Blm (zeige BLM Proteine) hypomorphic mice
levels of G6PD (zeige G6PD Proteine) 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