| 1 | CAV3, QDPR
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| Caveolin-3 is a direct molecular partner of the Cav1.1 subunit of the skeletal muscle L-type calcium channel.
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| Couchoux H, Bichraoui H, Chouabe C, Altafaj X, Bonvallet R, Allard B, Ronjat M, Berthier C.
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| Int J Biochem Cell Biol 43(5):713-20. Epub 2011 Jan 22.
2011
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| 2 | QDPR
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| Dihydropteridine reductase activity in the brainstem of intrauterine growth-restricted rats.
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| Manjarrez-Gutierrez G, Gonzalez-Ramirez M, Boyzo-Montes de Oca A, Hernandez-Rodriguez J.
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| Int J Dev Neurosci 28(7):621-4. Epub 2010 Jul 17.
2010
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| 3 | CBR4, DHRS1, DHRS1, DHRS11, DHRS12, DHRS7C, DHRSX, FAR1, FAR2, HSD17B11, HSD17B13, HSD17B14, HSD17B2, HSD17B3, HSD17B4, HSD17B6, HSD17B7P2, HSD17B8, HSD17BP1, HSD3B7, HSDL1, QDPR, RDH10, RDH12, RDH13, SDR16C6, SDR39U1, SDR42E1, TDH, TGDS, UXS1
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| The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
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| Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jörnvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U.
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| Chem Biol Interact 178(1-3):94-8. Epub 2008 Nov 5. 2009
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| 4 | QDPR
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| A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice.
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| Andronache Z, Hamilton SL, Dirksen RT, Melzer W.
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| Proc Natl Acad Sci U S A 106(11):4531-6. Epub 2009 Feb 25.
2009
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| 5 | HPABH4C, QDPR
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| Dihydropteridine reductase deficiency : physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
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| Dianzani I, de Sanctis L, Smooker PM, Gough TJ, Alliaudi C, Brusco A, Spada M, Blau N, Dobos M, Zhang HP, Yang N, Ponzone A, Armarego WL, Cotton RG.
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| Hum Mutat 12 : 267-273. 1998
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| 6 | HPABH4C, QDPR
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| Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.
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| Ikeda H, Matsubara Y, Mikami H, Kure S, Owada M, Gough T, Smooker PM, Dobbs M, Dahl HH, Cotton RG, Narisawa K.
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| Hum Genet 100(5-6):637-42. 1997
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| 7 | HPABH4C, QDPR
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| A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.
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| Smooker PM, et al.
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| J Med Genet 32 : 220-223. 1995
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| 8 | HPABH4C, QDPR
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| Molecular basis of dihydropteridine reductase deficiency.
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| Smooker PM, et al.
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| Hum Mutat 5 : 279-284. 1995
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| 9 | QDPR, DYT5, DDC
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| Abnormalities of biogenic amine metabolism.
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| Hyland K.
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| J Inherit Metab Dis 16 : 676-690. 1993
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| 10 | HPABH4C, QDPR
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| Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
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| Dianzani I, et al.
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| J Med Genet 30 : 465-469. 1993
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| 11 | HPABH4C, QDPR
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| Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.
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| Howells DW, et al.
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| Am J Hum Genet 47 : 279-285. 1990
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| 12 | HPABH4C, QDPR
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| Probable assignment of the dihydropteridine reductase gene to 4p15.31.
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| Sumi S, et al.
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| Tohoku J Exp Med 160 : 93-94. 1990
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| 13 | QDPR
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| NcoI and HinfI RFLPs detected with a dihydropteridine reductase cDNA probe.
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| Wake S, et al.
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| Nucleic Acids Res 16 : 3124. 1988
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| 14 | QDPR
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| Localisation of the gene for dihydropteridine reductase to human chromosome 4p15.3.
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| Brown RM, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 587. 1987
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| 15 | QDPR
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| Assignment of human dihydropteridine reductase locus to 4p16.1-15.1 : absence of close linkage with Huntington disease.
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| MacDonald M, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 654. 1987
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| 16 | HPABH4C, QDPR
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| Human dihydropteridine reductase : characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
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| Dahl HHM, et al.
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| Nucleic Acids Res 15 : 1921-1932. 1987
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| 17 | QDPR
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| Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization.
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| Brown RM, et al.
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| Genomics 1 : 67-70. 1987
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| 18 | QDPR, D4S10
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| Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4.
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| MacDonald ME, et al.
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| Somat Cell Mol Genet 13 : 569-574. 1987
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| 19 | HPABH4C, QDPR
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| Assignment of a gene for human quinoid-dihydropteridine reductase(QDPR Ec 1.6.5.1) to chromosome 4.
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| Kuhl P, et al.
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| Hum Genet 53 : 47-49. 1979
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| 20 | HPABH4C, QDPR
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| Les hyperphenylalaninemies avec activite normale de la phenylalanine-hydroxylase : le deficit en tetrahydrobiopterine et le deficit en dihydropteridine reductase.
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| Rey F, et al.
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| Arch Fr Pediatr 34 (S2) : 109-120. 1977
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| 21 | HPABH4C, QDPR
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| New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
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| Smith I, et al.
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| Lancet I : 1108-1111. 1975
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| 22 | HPABH4C, QDPR
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| Phenylketonuria due to a deficiency of dihydropteridine reductase.
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| Kaufman S, et al.
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| N Engl J Med 293 : 785-790. 1975
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