| 1 | HPRT1
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| CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
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| Gasperini M, Findlay GM, McKenna A, Milbank JH, Lee C, Zhang MD, Cusanovich DA, Shendure J.
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| Am J Hum Genet 101(2):192-205. doi: 10.1016/j.ajhg.2017.06.010. Epub 2017 Jul 14.
2017
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| 2 | HPRT1, PRPS1
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| Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.
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| Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Fukushi D, Wakamatsu N, Taniguchi A, Yamaoka N, Kaneko K, Fujimori S.
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| Nucleosides Nucleotides Nucleic Acids 30(12):1272-5. doi: 10.1080/15257770.2011.597369.
2011
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| 3 | HPRT1, HPRT1D
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| Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.
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| Cristini S, Navone S, Canzi L, Acerbi F, Ciusani E, Hladnik U, de Gemmis P, Alessandri G, Colombo A, Parati E, Invernici G.
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| Hum Mol Genet 19(10):1939-50. Epub 2010 Feb 16. 2010
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| 4 | HPRT1, HPRT1D
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| Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
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| Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA.
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| Hum Mol Genet 18(13):2317-27. Epub 2009 Apr 2.
2009
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| 5 | HPRT1
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| Radiation-induced HPRT mutations resulting from misrejoined DNA double-strand breaks.
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| Rothkamm K, Gunasekara K, Warda SA, Krempler A, Lbrich M.
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| Radiat Res 169(6):639-48. 2008
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| 6 | GHPR, HPRT1, HPRT1D
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| Normal HPRT coding region in complete and partial HPRT deficiency.
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| Garca MG, Torres RJ, Prior C, Puig JG.
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| Mol Genet Metab 94(2):167-72. Epub 2008 Mar 7. 2008
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| 7 | HPRT1, GHPR
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| HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
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| Cossu A, Orr S, Jacomelli G, Carcassi C, Contu L, Sestini S, Corradi MR, Pompucci G, Carcassi A, Micheli V.
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| Biochim Biophys Acta 1762(1):29-33. Epub 2005 Apr 13. 2006
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| 8 | HPRT1, PRTFDC1
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| Pseudogenes of the human HPRT1 gene.
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| Nicklas JA.
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| Environ Mol Mutagen 47(3):212-8.
2006
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| 9 | HPRT1, HPRT1D
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| A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
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| Mizunuma M, Fujimori S, Ogino H, Ueno T, Inoue H, Kamatani N.
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| Hum Mutat 18(5):435-43. 2001
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| 10 | GHPR, HPRT1
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| Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.
|
| Zoref-Shani E, Feinstein S, Frishberg Y, Bromberg Y, Sperling O.
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| Biochim Biophys Acta 1500(2):197-203. 2000
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| 11 | HPRT1
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| An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans.
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| Fujimori S, et al.
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| Hum Genet 99 : 8-10. 1997
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| 12 | HPRT1
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| Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency: HPRT Heidelberg.
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| Gathof BS, et al.
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| Hum Mutat 7 : 184. 1996
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| 13 | ADFN, CD40LG, F9, GPC3, HPRT1, HPT1, HTX1, MCF2, THAS
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| YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers.
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| Pilia G, et al.
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| Genomics 34 : 55-62. 1996
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| 14 | MAFD2, HPRT1
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| Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree.
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| Pekkarinen P, et al.
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| Genome Res 5 : 105-115. 1995
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| 15 | HPRT1
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| Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency : identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
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| Tohyama J, et al.
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| Hum Genet 93 : 175-181. 1994
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| 16 | HPRT1, HPRT1D
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| A 13 base pair deletion in exon 1 of HPRT Illinois forms a functional GUG initiation codon.
|
| Davidson BL, et al.
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| Hum Genet 93 : 300-304. 1994
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| 17 | HPRT1
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| Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome.
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| Fuscoe JC, et al.
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| Hum Mol Genet 3 : 199-200. 1994
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| 18 | HPRT1
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| Sequence, expression and characterization of HPRT Moose Jaw : a point mutation resulting in cooperativity and decreased substrate affinities.
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| Lightfoot T, et al.
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| Hum Mol Genet 3 : 1377-1381. 1994
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| 19 | HPRT1
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| Detection of deletion mutations extending beyond the HPRT gene by multiplex PCR analysis.
|
| Fuscoe JC, et al.
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| Somat Cell Mol Genet 20 : 39-46. 1994
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| 20 | HPRT1
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| Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
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| Marcus S, et al.
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| Hum Mutat 2 : 473-477. 1993
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| 21 | HPRT1
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| High-resolution cytogenetic analysis of X-ray induced mutations of the HPRT gene of primary human fibroblasts.
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| Simpson P, et al.
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| Cytogenet Cell Genet 64 : 39-45. 1993
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| 22 | HPRT1
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| Identification of two new nucleotide mutations (HPRT-Utrecht and HPRT-Madrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
|
| Bouwens-Rombouts AGM, et al.
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| Hum Genet 91 : 451-454. 1993
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| 23 | HPRT1
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| Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome.
|
| Marcus S, et al.
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| Hum Genet 90 : 477-482. 1993
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| 24 | HPRT1, F9
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| Yeast artificial chromosomes spanning 8 megabases and 10-15 centimorgans of human cytogenetic band Xq26.
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| Little RD, et al.
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| Proc Natl Acad Sci U S A 89 : 177-181. 1992
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| 25 | HPRT1
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| Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene.
|
| Steingrimsdottir H, et al.
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| Nucleic Acids Res 20 : 1201-1208. 1992
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| 26 | HPRT1
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| The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRT-Edinburg) and detection by allele-specific polymerase chain reaction.
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| Lightfoot T, et al.
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| Hum Genet 88 : 695-696. 1992
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| 27 | HPRT1
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| Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.
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| Marcus S, et al.
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| Hum Genet 89 : 395-400. 1992
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| 28 | HPRT1
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| Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions.
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| Monnat RJ, et al.
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| Genomics 13 : 777-787. 1992
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| 29 | HPRT1
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| Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications.
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| Monnat RJ, et al.
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| Genomics 13 : 788-796. 1992
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| 30 | HPRT1
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| Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
|
| Sege-Peterson K, et al.
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| Hum Mol Genet 1 : 427-432. 1992
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| 31 | HPRT1
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| A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
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| Sculley DG, et al.
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| Hum Genet 90 : 195-207. 1992
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| 32 | HPRT1
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| A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient : missense mutations within a functionally important region probably cause disease.
|
| Fujimori S, et al.
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| Hum Genet 90 : 385-388. 1992
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| 33 | HPRT1
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| Mutations causing defective splicing in the human hprt gene.
|
| Andersson B, et al.
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| Environ Mol Mutagen 20 : 89-95. 1992
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| 34 | HPRT1
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| Screening for mutations in human HPRT cDNA using the polymerase chain reaction (PCR) in combination with constant denaturant gel electrophoresis (CDGE).
|
| Smith-Srensen B, et al.
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| Mutat Res 269 : 41-53. 1992
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| 35 | HPRT1, PGK1
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| Clonal involvement of granulocytes and monocytes, but not of T and B lymphocytes and natural killer cells in patients with myelodysplasia : analysis by X-linked restriction fragment length polymorphisms and polymerase chain reaction of the phosphoglycerate kinase gene.
|
| van Kamp H, et al.
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| Blood 80 : 1774-1780. 1992
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| 36 | FABP2, AR, TH, REN, HPRT1
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| Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups.
|
| Edwards A, et al.
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| Genomics 12 : 241-253. 1992
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| 37 | HPRT1
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| Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
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| Tarl SA, et al.
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| Genomics 10 : 499-501. 1991
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| 38 | HPRT1
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| Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
|
| Davidson BL, et al.
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| Am J Hum Genet 48 : 951-958. 1991
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| 39 | HPRT1
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| Fine structure mappping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26).
|
| Nicklas JA, et al.
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| Am J Hum Genet 49 : 267-278. 1991
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| 40 | HPRT1
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| A Taql RFLP in the region of the HPRT locus.
|
| Renwick P, et al.
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| Nucleic Acids Res 19 : 4576. 1991
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| 41 | HPRT1
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| Tetranucleotide repeat polymorphism at the HPRT locus.
|
| Hearne CM, et al.
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| Nucleic Acids Res 19 : 5450. 1991
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| 42 | HPRT1
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| Hypoxanthine-guanine phosphoribosyltransferase deficiency : analysis of HPRT mutations by direct sequencing and allele-specific amplification.
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| Sculley DG, et al.
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| Hum Genet 87 : 688-692. 1991
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| 43 | HPRT1
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| The molecular characterisation of HPRT(CHERMSIDE) and HPRT(COORPAROO): two Lesch-Nyhan patients with reduced amounts of mRNA.
|
| Gordon RB, et al.
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| Gene 108 : 299-304. 1991
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| 44 | HPRT1
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| Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency.
|
| Gordon RB, et al.
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| J Inherit Metab Dis 13 : 692-700. 1990
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| 45 | HPRT1
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| Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
|
| Gibbs RA, et al.
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| Genomics 7 : 235-244. 1990
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| 46 | HPRT1
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| Hypoxanthine guanine phosphoribosyltransferase deficiency : nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.
|
| Fujimori S, et al.
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| Hum Genet 84 : 483-486. 1990
|
| 47 | HPRT1
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| Mutations induced at the hypoxanthine-guanine phosphoribosyltransferase locus of human T-lymphoblasts by perturbations of purine deoxyribonucleoside triphosphate pools.
|
| Mattano SS, et al.
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| Cancer Res 50 : 4566-4571. 1990
|
| 48 | HPRT1
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| Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRT).
|
| Davidson BL, et al.
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| J Biol Chem 264 : 520-525. 1989
|
| 49 | HPRT1
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| Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
|
| Gibbs RA, et al.
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| Proc Natl Acad Sci U S A 86 : 1919-1923. 1989
|
| 50 | HPRT1
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| Alu polymerase chain reaction : a method for rapid isolation of human-specific sequences from complex DNA sources.
|
| Nelson DL, et al.
|
| Proc Natl Acad Sci U S A 86 : 6686-6690. 1989
|
| 51 | HPRT1
|
| The Lesch-Nyhan syndrome : clinical, molecular and genetic aspects.
|
| Stout JT, et al.
|
| Trends Genet 4 : 175-178. 1988
|
| 52 | HPRT1
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| Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification : HPRT(Munich).
|
| Cariello NF, et al.
|
| Am J Hum Genet 42 : 726-734. 1988
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| 53 | FRAXA, HPRT1
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| Linkage of flanking probes in 40 fragile X families.
|
| Brown WT, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 587. 1987
|
| 54 | HPRT1
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| A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.
|
| Nussbaum RL, et al.
|
| Proc Natl Acad Sci U S A 80 : 4035-4039. 1983
|
| 55 | G6PD, HPRT1
|
| Localisation of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.
|
| Pai GS, et al.
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| Proc Natl Acad Sci U S A 77 : 2810-2813. 1980
|
| 56 | HPRT1
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| Identification of a de novo chromosome rearrangement in a man-mouse hybrid clone and its bearing on the cytological map of the human X chromosome.
|
| Grzeschik KH, et al.
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| Cytogenet Cell Genet 16 : 149-156. 1976
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| 57 | HPRT1
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| Further data on the cytologic mapping of the human X chromosome with man-mouse cell hybrids.
|
| Seravalli E, et al.
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| Cytogenet Cell Genet 16 : 219-222. 1976
|
| 58 | HPRT1, PGK1
|
| Localization of genes coding for PGK, HPRT, and G6PD on the long arm of the X chromosome in somatic cell hybrids.
|
| Shows TB, et al.
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| Cytogenet Cell Genet 14 : 256-259. 1975
|
| 59 | HPRT1, PGK1
|
| Localization of gene markers to regions of the human X chromosome by segregation of X-autosome translocations in somatic cell hybrids.
|
| Pearson PL, et al.
|
| Cytogenet Cell Genet 13 : 136-142. 1974
|