1 | DBH, ORTHYP1
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| Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.
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| Wassenberg T, Deinum J, van Ittersum FJ, Kamsteeg EJ, Pennings M, Verbeek MM, Wevers RA, van Albada ME, Kema IP, Versmissen J, van den Meiracker T, Lenders JWM, Monnens L, Willemsen MA.
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| J Inherit Metab Dis. May;44(3):554-565. doi: 10.1002/jimd.12321. Epub 2020 Oct 15. 2021
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2 | DBH
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| Dopamine β hydroxylase as a potential drug target to combat hypertension
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| Dey SK, Saini M, Prabhakar P, Kundu S.
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| Expert Opin Investig Drugs Sep;29(9):1043-1057. doi: 10.1080/13543784.2020.1795830. Epub 2020 Aug 4. 2020
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3 | ATP7A, ATP7B, DBH
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| ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase
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| Schmidt K, Ralle M, Schaffer T, Jayakanthan S, Bari B, Muchenditsi A, Lutsenko S.
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| J Biol Chem. Dec 28;293(52):20085-20098. doi: 10.1074/jbc.RA118.004889. Epub 2018 Oct 19. 2018
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4 | DBH, ORTHYP1
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| Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency.
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| Arnold AC, Garland EM, Celedonio JE, Raj SR, Abumrad NN, Biaggioni I, Robertson D, Luther JM, Shibao CA.
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| J Clin Endocrinol Metab. Jan 1;102(1):10-14. doi: 10.1210/jc.2016-3274. 2017
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5 | DBH
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| Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity.
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| Barrie ES, Weinshenker D, Verma A, Pendergrass SA, Lange LA, Ritchie MD, Wilson JG, Kuivaniemi H, Tromp G, Carey DJ, Gerhard GS, Brilliant MH, Hebbring SJ, Cubells JF, Pinsonneault JK, Norman GJ, Sadee W.
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| Circ Res. Dec 5;115(12):1017-25. doi: 10.1161/CIRCRESAHA.116.304398. Epub 2014 Oct 17 2014
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6 | DBH, FOXO1
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| Foxo1 regulates Dbh expression and the activity of the sympathetic nervous system in vivo
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| Kajimura D, Paone R, Mann JJ, Karsenty G.
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| Mol Metab. Jul 29;3(7):770-7. doi: 10.1016/j.molmet.2014.07.006. 2014
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7 | ASCL1, DBH, HAND2, PHOX2B, TCF3
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| Interaction of Hand2 and E2a is important for transcription of Phox2b in sympathetic nervous system neuron differentiation.
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| Hashimoto Y, Tsutsumi M, Myojin R, Maruta K, Onoda F, Tashiro F, Ohtsu M, Murakami Y.
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| Biochem Biophys Res Commun 408(1):38-44. Epub 2011 Mar 29.
2011
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8 | DBH, SLC6A3
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| New genetic evidence for involvement of the dopamine system in migraine with aura.
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| Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C.
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| Hum Genet 125(3):265-79. Epub 2009 Jan 17.
2009
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9 | DBH
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| Dopamine beta hydroxylase (DBH) plasma activity in childhood mental disorders.
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| Paclt I, Koudelová J, Pacltova D, Kopeckova M.
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| Neuro Endocrinol Lett 30(5):604-9.
2009
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10 | DBH
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| Examination of association to autism of common genetic variationin genes related to dopamine.
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| Anderson BM, Schnetz-Boutaud N, Bartlett J, Wright HH, Abramson RK, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Haines JL.
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| Autism Res 1(6):364-9.
2008
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11 | DBH
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| Genes controlling affiliative behavior as candidate genes for autism.
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| Yrigollen CM, Han SS, Kochetkova A, Babitz T, Chang JT, Volkmar FR, Leckman JF, Grigorenko EL.
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| Biol Psychiatry 63(10):911-6. Epub 2008 Jan 22.
2008
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12 | DBH
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| Impaired temporal resolution of visual attention and dopamine beta hydroxylase genotype in attention-deficit/hyperactivity disorder.
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| Bellgrove MA, Mattingley JB, Hawi Z, Mullins C, Kirley A, Gill M, Robertson IH.
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| Biol Psychiatry 60(10):1039-45. Epub 2006 Jul 28. 2006
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13 | DBH
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| DBH*444G/A polymorphism of the dopamine-beta-hydroxylase gene is associated with alcoholism but not with severe alcohol withdrawal symptoms.
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| Kohnke MD, Kolb W, Kohnke AM, Lutz U, Schick S, Batra A.
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| J Neural Transm 113(7):869-76. Epub 2005 Oct 27. 2006
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14 | ADHD, DBH, DRD4, DRD5, HTR1B, SLC6A3, SNAP25, TPH2
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| Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder.
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| Hawi Z, Segurado R, Conroy J, Sheehan K, Lowe N, Kirley A, Shields D, Fitzgerald M, Gallagher L, Gill M.
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| Am J Hum Genet 77(6):958-65. Epub 2005 Oct 26. 2005
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15 | PHOX2A, DBH
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| The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status.
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| Adachi M, Lewis EJ.
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| J Biol Chem 277(25):22915-24. 2002
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16 | CYB561, DBH
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| Domain homologues of dopamine beta-hydroxylase and ferric reductase: roles for iron metabolism in neurodegenerative disorders?
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| Ponting CP.
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| Hum Mol Genet 10(17):1853-8. 2001
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17 | DBH
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| A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus.
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| Zabetian CP, Anderson GM, Buxbaum SG, Elston RC, Ichinose H, Nagatsu T, Kim KS, Kim CH, Malison RT, Gelernter J, Cubells JF.
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| Am J Hum Genet 68(2):515-22. 2001
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18 | DBH
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| Physical and cDNA mapping in the DBH region of human chromosome 9q34.
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| Gilbert JR, Kumar A, Newey S, Rao N, Ioannou P, Qiu H, Lin D, Xu P, Pettenati MJ, Pericak-Vance MA.
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| Hum Hered 50(3):151-7. 2000
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19 | DBH
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| No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH).
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| Williams HJ, et al.
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| Am J Med Genet 88(5):557-559 1999
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20 | DBH
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| Identification and characterization of a novel phorbol ester-responsive DNA sequence in the 5'-flanking region of the human dopamine beta-hydroxylase gene.
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| Ishiguro H, et al.
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| J Biol Chem 273 : 21941-21949. 1998
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21 | DBH
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| AP1 proteins mediate the cAMP response of the dopamine beta-hydroxylase gene.
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| Swanson DJ, et al.
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| J Biol Chem 273 : 24065-24074. 1998
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22 | DBH
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| Dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase (DBH) locus.
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| Porter CJ, et al.
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| Nucleic Acids Res 20 : 1429. 1992
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23 | DBH
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| A 19bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase locus.
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| Nahmias J, et al.
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| Hum Mol Genet 1 : 286. 1992
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24 | DBH
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| Sequence tagged site (STS) TaqI RFLP at dopamine beta-hydroxylase (DBH).
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| Gelernter J, et al.
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| Nucleic Acids Res 19 : 1957. 1991
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25 | DBH
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| Linkage analysis of the human dopamine beta-hydroxylase gene.
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| Perry SE, et al.
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| Genomics 10 : 493-495. 1991
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26 | DBH
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| Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.
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| Schuback D, et al.
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| Hum Genet 87 : 311-316. 1991
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27 | DBH
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| FnuD II RFLP at the human dopamine-beta-hydroxylase (D-beta-H) locus.
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| Perry SE, et al.
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| Nucleic Acids Res 19 : 1162. 1991
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28 | DBH
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| A BamHI polymorphism at the DBH locus.
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| Porter CJ, et al.
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| Nucleic Acids Res 18 : 5581. 1990
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29 | DBH
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| Dopamine-beta-hydroxylase activity in familial Mediterranean fever.
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| Ben-Chetrit E, et al.
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| Lancet I : 176. 1990
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30 | DBH
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| RFLP for human DBH (dopamine beta-hydroxylase).
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| Schuback DE, et al.
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| Nucleic Acids Res 18 : 387. 1990
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31 | DBH
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| Two TaqI dimorphic sites at the human beta-hydroxylase locus.
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| D'Amato T, et al.
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| Nucleic Acids Res 17 : 5871. 1989
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32 | DBH
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| Plasma dopamine beta-hydroxylase : rapid diagnostic test for recurrent hereditary polyserositis.
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| Barakat MH, Gumaa KA, Malhas LN, el-Sobki NI, Moussa MA, Fenech FF.
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| Lancet II : 1280-1283. 1988
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33 | DBH
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| Localization of the human dopamine beta hydroxylase (DBH) gene to chromosome 9q34.
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| Craig SP, Buckle VJ, Lamouroux A, Mallet J, Craig IW.
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| Cytogenet Cell Genet 48 : 48-50. 1988
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34 | DBH, ABO
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| Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus.
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| Wilson AF, et al.
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| Am J Hum Genet 42 : 160-166. 1988
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35 | DBH
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| A locus regulating dopamine-beta-hydroxylase activity is located in the ABO-AK1-ORM linkage group.
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| Keats BJB, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 637. 1987
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36 | DBH
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| Segregation and linkage analyses of dopamine-beta-hydroxylase activity in a six-generation pedigree.
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| Asamoah A, et al.
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| Am J Med Genet 27 : 613-621. 1987
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37 | DBH
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| Segregation and linkage analyses of dopamine-beta-hydroxylase activity.
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| Elston RC, et al.
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| Hum Hered 29 : 284-292. 1979
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