Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although different studies were conducted on LNS, information on codon usage bias (CUB) of HPRT1 gene is limited.
|
30818063 |
2020 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Missense mutations in hypoxanthine phosphoribosyl transferase 1 (HPRT1) are associated with deficiencies such as Lesch-Nyhan disease and chronic gout, which have manifestations such as arthritis, neurodegeneration, and cognitive disorders.
|
30831305 |
2019 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lesch-Nyhan disease (LND) is a rare X-linked genetic disorder, with complete hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, uric acid (UA), hypoxanthine and xanthine accumulation, and a devastating neurologic syndrome.
|
30740729 |
2019 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by mutations in the HPRT1 gene.
|
31129767 |
2019 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HGPRT1 gene, which encodes hypoxanthine-guanine phosphoribosyltransferase (HGprt), housekeeping enzyme responsible for recycling purines, lead to Lesch-Nyhan disease (LND).
|
29305058 |
2018 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
|
30001695 |
2018 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The neurological manifestations of Lesch-Nyhan disease (LND) have been attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on nervous system development.
|
29634397 |
2018 |
Lesch-Nyhan Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Patients with HPRT deficiency present low or undetectable HPRT activity in hemolysates, with increased adenine phosphoribosyltransferase (APRT) activity.
|
28782500 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis reveals the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency.
|
28045594 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis has revealed the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency.
|
28524722 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We applied ScanDel to HPRT1, the housekeeping gene underlying Lesch-Nyhan syndrome, an X-linked recessive disorder.
|
28712454 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
|
28045594 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular diagnosis is consistent with the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency.
|
29185864 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Application of this kinetic method to the Lesch-Nyhan disease (LND) was performed and results indicated an epistasis between mutated hypoxanthine phosphoribosyltransferase1 (HPRT1) and APP genes.
|
28192196 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A subcellular map of the human proteome.
|
28495876 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
27754763 |
2017 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the case of a family with 4 affected males and several female obligate carriers.In 1989, Fujimori et al. reported on a patient diagnosed with LNS who had an HPRT variant thereafter codenamed HPRTYale.
|
27420966 |
2016 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis revealed a deletion of exon 2 and 3 of the HPRT gene confirming the diagnosis of Lesch-Nyhan Disease (LND).
|
27185581 |
2016 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation: c.65T>C, who both developed nephrocalcinosis and renal failure, findings not been previously published in children with HPRT deficiency.
|
27079129 |
2016 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular diagnosis discloses the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency.
|
27379977 |
2016 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation: c.65T>C, who both developed nephrocalcinosis and renal failure, findings not been previously published in children with HPRT deficiency.
|
27079129 |
2016 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the current review, we highlight the role of miRNAs in Lesch-Nyhan disease (LND), a rare neurogenetic syndrome caused by mutations in the purine metabolic gene encoding the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme.
|
26296934 |
2015 |
Lesch-Nyhan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Neurological manifestations in Lesch-Nyhan disease (LND) are attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on the nervous system development.
|
25940910 |
2015 |
Lesch-Nyhan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular diagnosis discloses the genetic heterogeneity of HPRT1 gene responsible for HGprt deficiency.
|
25965333 |
2015 |