메뉴 건너뛰기




Volumn 9, Issue 6, 2005, Pages 1247-1265

Genetic variation in G-protein-coupled receptors - Consequences for G-protein-coupled receptors as drug targets

Author keywords

Classification; Desensitisation; Downregulation; G protein coupled receptors (GPCR); Ligand binding; Orphan receptor; Single nucleotide polymorphism (SNP)

Indexed keywords

ALPHA ADRENERGIC RECEPTOR; ANGIOTENSIN RECEPTOR; BETA ADRENERGIC RECEPTOR; BRADYKININ RECEPTOR; CALCIUM SENSING RECEPTOR; CHEMOKINE RECEPTOR; DOPAMINE RECEPTOR; ENDOTHELIN RECEPTOR; FOLLITROPIN RECEPTOR; G PROTEIN COUPLED RECEPTOR; LIGAND; MEMBRANE RECEPTOR; MUSCARINIC RECEPTOR; PROSTACYCLIN RECEPTOR; PROTEINASE ACTIVATED RECEPTOR; SEROTONIN RECEPTOR; VASOPRESSIN RECEPTOR;

EID: 28844478334     PISSN: 14728222     EISSN: None     Source Type: Journal    
DOI: 10.1517/14728222.9.6.1247     Document Type: Review
Times cited : (26)

References (156)
  • 1
    • 24644466927 scopus 로고    scopus 로고
    • Single nucleotide polymorphism in transcriptional regulatory regions and expression of environmentally responsive genes
    • WANG X, TOMSO DJ, LIU X, BELL DA: Single nucleotide polymorphism in transcriptional regulatory regions and expression of environmentally responsive genes. Toxicol. Appl. Pharmacol. (2005) 207(2 Suppl.):84-90.
    • (2005) Toxicol. Appl. Pharmacol. , vol.207 , Issue.2 SUPPL. , pp. 84-90
    • Wang, X.1    Tomso, D.J.2    Liu, X.3    Bell, D.A.4
  • 2
    • 4944256731 scopus 로고    scopus 로고
    • GPCR-GIP networks: A first step in the discovery of new therapeutic drugs?
    • BOCKAERT J, DUMUIS A, FAGNI L, MARIN P: GPCR-GIP networks: a first step in the discovery of new therapeutic drugs? Curr. Opin. Drug Discov. Devel. (2004) 7(5):649-657.
    • (2004) Curr. Opin. Drug Discov. Devel. , vol.7 , Issue.5 , pp. 649-657
    • Bockaert, J.1    Dumuis, A.2    Fagni, L.3    Marin, P.4
  • 3
    • 0035895505 scopus 로고    scopus 로고
    • The sequence of the human genome
    • VENTER JC, ADAMS MD, MYERS EW et al.: The sequence of the human genome. Science (2001) 291(5507):1304-1351.
    • (2001) Science , vol.291 , Issue.5507 , pp. 1304-1351
    • Venter, J.C.1    Adams, M.D.2    Myers, E.W.3
  • 4
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • International Human Genome Sequencing Consortium
    • INTERNATIONAL HUMAN GENOME SEQUENCING CONSORTIUM: Finishing the euchromatic sequence of the human genome. Nature (2004) 431(7011):931-945.
    • (2004) Nature , vol.431 , Issue.7011 , pp. 931-945
  • 5
    • 0037446894 scopus 로고    scopus 로고
    • The G protein-coupled receptor repertoires of human and mouse
    • VASSILATIS DK, HOHMANN JG, ZENG H et al.: The G protein-coupled receptor repertoires of human and mouse. Proc. Natl. Acad. Sci. USA (2003) 100(8):4903-4908.
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , Issue.8 , pp. 4903-4908
    • Vassilatis, D.K.1    Hohmann, J.G.2    Zeng, H.3
  • 6
    • 18244362033 scopus 로고    scopus 로고
    • The GRAFS classification system of G-protein coupled receptors in comparative perspective
    • SCHIOTH HB, FREDRIKSSON R, The GRAFS classification system of G-protein coupled receptors in comparative perspective. Gen. Comp. Endocrinol. (2005) 142(1-2):94-101.
    • (2005) Gen. Comp. Endocrinol. , vol.142 , Issue.1-2 , pp. 94-101
    • Schioth, H.B.1    Fredriksson, R.2
  • 7
    • 17844400914 scopus 로고    scopus 로고
    • The repertoire of G-protein-coupled receptors in fully sequenced genomes
    • FREDRIKSSON R, SCHIOTH HB: The repertoire of G-protein-coupled receptors in fully sequenced genomes. Mol. Pharmacol. (2005) 67(5):1414-1425.
    • (2005) Mol. Pharmacol. , vol.67 , Issue.5 , pp. 1414-1425
    • Fredriksson, R.1    Schioth, H.B.2
  • 8
    • 22944457221 scopus 로고    scopus 로고
    • International Union of Pharmacology. XLVI. G protein-coupled receptor list
    • FOORD SM, BONNER TI, NEUBIG RR et al.: International Union of Pharmacology. XLVI. G protein-coupled receptor list, Pharmacol. Rev. (2005) 57(2):279-288.
    • (2005) Pharmacol. Rev. , vol.57 , Issue.2 , pp. 279-288
    • Foord, S.M.1    Bonner, T.I.2    Neubig, R.R.3
  • 9
    • 11144246968 scopus 로고    scopus 로고
    • GPCR deorphanizations: The novel, the known and the unexpected transmitters
    • CIVELLI O: GPCR deorphanizations: the novel, the known and the unexpected transmitters. Trends Pharmacol. Sci. (2005) 26(1):15-19.
    • (2005) Trends Pharmacol. Sci. , vol.26 , Issue.1 , pp. 15-19
    • Civelli, O.1
  • 11
    • 0035101820 scopus 로고    scopus 로고
    • Evolving concepts in G protein-coupled receptor endocytosis: The role in receptor desensitization and signaling
    • FERGUSON SS: Evolving concepts in G protein-coupled receptor endocytosis: the role in receptor desensitization and signaling. Pharmacol. Rev. (2001) 53(1):1-24.
    • (2001) Pharmacol. Rev. , vol.53 , Issue.1 , pp. 1-24
    • Ferguson, S.S.1
  • 12
    • 3042798261 scopus 로고    scopus 로고
    • Molecular mechanisms of ligand binding, signaling, and regulation within the superfamily of G-protein-coupled receptors: Molecular modeling and mutagenesis approaches to receptor structure and function
    • KRISTIANSEN K: Molecular mechanisms of ligand binding, signaling, and regulation within the superfamily of G-protein-coupled receptors: molecular modeling and mutagenesis approaches to receptor structure and function. Pharmacol. Ther. (2004) 103(1):21-80.
    • (2004) Pharmacol. Ther. , vol.103 , Issue.1 , pp. 21-80
    • Kristiansen, K.1
  • 13
    • 3242793327 scopus 로고    scopus 로고
    • Historical review: A brief history and personal retrospective of seven-transmembrane receptors
    • LEFKOWITZ RJ: Historical review: a brief history and personal retrospective of seven-transmembrane receptors. Trends Pharmacol. Sci. (2004) 25(8):413-422.
    • (2004) Trends Pharmacol. Sci. , vol.25 , Issue.8 , pp. 413-422
    • Lefkowitz, R.J.1
  • 14
    • 22944452140 scopus 로고    scopus 로고
    • The origins of diversity and specificity in g protein-coupled receptor signaling
    • MAUDSLEY S, MARTIN B, LUTTRELL LM: The origins of diversity and specificity in g protein-coupled receptor signaling. J. Pharmacol. Exp. Ther. (2005) 314(2):495-494.
    • (2005) J. Pharmacol. Exp. Ther. , vol.314 , Issue.2 , pp. 485-494
    • Maudsley, S.1    Martin, B.2    Luttrell, L.M.3
  • 15
    • 13444261019 scopus 로고    scopus 로고
    • G protein-coupled receptors: A count of 1001 conformations
    • VAUQUELIN G, VAN LIEFDE I: G protein-coupled receptors: a count of 1001 conformations. Fundam. Ciin. Pharmacol. (2005) 19(1):45-56.
    • (2005) Fundam. Clin. Pharmacol. , vol.19 , Issue.1 , pp. 45-56
    • Vauquelin, G.1    Van Liefde, I.2
  • 17
    • 14844343100 scopus 로고    scopus 로고
    • Multi-tasking RGS proteins in the heart: The next therapeutic target?
    • RIDDLE EL, SCHWARTZMAN RA, BOND M, INSEL PA: Multi-tasking RGS proteins in the heart: the next therapeutic target? Circ. Res. (2005) 96(4):401-411.
    • (2005) Circ. Res. , vol.96 , Issue.4 , pp. 401-411
    • Riddle, E.L.1    Schwartzman, R.A.2    Bond, M.3    Insel, P.A.4
  • 18
    • 0037205055 scopus 로고    scopus 로고
    • G protein pathways
    • NEVES SR, RAM PT, IYENGAR R: G protein pathways. Science (2002) 296(5573):1636-1639.
    • (2002) Science , vol.296 , Issue.5573 , pp. 1636-1639
    • Neves, S.R.1    Ram, P.T.2    Iyengar, R.3
  • 19
    • 0242289621 scopus 로고    scopus 로고
    • Galpha12 and Galpha13 as key regulatory mediator in signal transduction
    • KUROSE H: Galpha12 and Galpha13 as key regulatory mediator in signal transduction. Life Sci. (2003) 74(2-3):155-16L
    • (2003) Life Sci. , vol.74 , Issue.2-3 , pp. 155-161
    • Kurose, H.1
  • 20
    • 14644426000 scopus 로고    scopus 로고
    • Receptors coupled to heterotrimeric G proteins of the G12 family
    • RIOBO NA, MANNING DR: Receptors coupled to heterotrimeric G proteins of the G12 family. Trends Pharmacol. Sci. (2005) 26(3):146-154.
    • (2005) Trends Pharmacol. Sci. , vol.26 , Issue.3 , pp. 146-154
    • Riobo, N.A.1    Manning, D.R.2
  • 21
    • 0038387872 scopus 로고    scopus 로고
    • Crosstalk between Rap1 and Rac regulates secretion of sAPPalpha
    • MAILLET M, ROBERT SJ, CACQUEVEL M et al.: Crosstalk between Rap1 and Rac regulates secretion of sAPPalpha. Nat. Cell. Biol. (2003) 5(7):633-639.
    • (2003) Nat. Cell. Biol. , vol.5 , Issue.7 , pp. 633-639
    • Maillet, M.1    Robert, S.J.2    Cacquevel, M.3
  • 22
    • 0037450725 scopus 로고    scopus 로고
    • Cyclic AMP induces integrin-mediated cell adhesion through Epac and Rap1 upon stimulation of the beta 2-adrenergic receptor
    • RANGARAJAN S, ENSERINK JM. KUIPERIJ HB et al.: Cyclic AMP induces integrin-mediated cell adhesion through Epac and Rap1 upon stimulation of the beta 2-adrenergic receptor. J. Cell Biol. (2003) 160(4):487-493.
    • (2003) J. Cell Biol. , vol.160 , Issue.4 , pp. 487-493
    • Rangarajan, S.1    Enserink, J.M.2    Kuiperij, H.B.3
  • 23
    • 0036793527 scopus 로고    scopus 로고
    • Genetic and pharmacological dissection of pathways involved in the angiotensin II-mediated depression of baroreflex function
    • WONG LF, POLSON JW, MURPHY D, PATON JF, KASPAROV S: Genetic and pharmacological dissection of pathways involved in the angiotensin II-mediated depression of baroreflex function. FASEB J. (2002) 16(12):1595-1601.
    • (2002) FASEB J. , vol.16 , Issue.12 , pp. 1595-1601
    • Wong, L.F.1    Polson, J.W.2    Murphy, D.3    Paton, J.F.4    Kasparov, S.5
  • 24
    • 0028338534 scopus 로고
    • GCRDb: A G-protein-coupled receptor database
    • KOLAKOWSKI LF, JR.: GCRDb: a G-protein-coupled receptor database. Receptors Channels (1994) 2(1):1-7.
    • (1994) Receptors Channels , vol.2 , Issue.1 , pp. 1-7
    • Kolakowski Jr., L.F.1
  • 25
    • 12744280744 scopus 로고    scopus 로고
    • Structure of human follicle-stimulating hormone in complex with its receptor
    • FAN QR, HENDRICKSON WA: Structure of human follicle-stimulating hormone in complex with its receptor. Nature (2005) 433(7023):269-277.
    • (2005) Nature , vol.433 , Issue.7023 , pp. 269-277
    • Fan, Q.R.1    Hendrickson, W.A.2
  • 26
    • 0033118334 scopus 로고    scopus 로고
    • Molecular tinkering of G protein-coupled receptors: An evolutionary success
    • BOCKAERT J, PIN JP: Molecular tinkering of G protein-coupled receptors: an evolutionary success. EMBO J. (1999) 18(7):1723-1729.
    • (1999) EMBO J. , vol.18 , Issue.7 , pp. 1723-1729
    • Bockaert, J.1    Pin, J.P.2
  • 27
    • 0038024615 scopus 로고    scopus 로고
    • The G-protein-coupled receptors in the human genome form five main families. Phylogenetic analysis, paralogon groups, and fingerprints
    • FREDRIKSSON R, LAGERSTROM MC, LUNDIN LG, SCHIOTH HB: The G-protein-coupled receptors in the human genome form five main families. Phylogenetic analysis, paralogon groups, and fingerprints. Mol. Pharmacol. (2003) 63(6):1256-1272.
    • (2003) Mol. Pharmacol. , vol.63 , Issue.6 , pp. 1256-1272
    • Fredriksson, R.1    Lagerstrom, M.C.2    Lundin, L.G.3    Schioth, H.B.4
  • 28
    • 0036179423 scopus 로고    scopus 로고
    • Hypertension genetics, single nucleotide polymorphisms, and the common disease: Common variant hypothesis
    • DORIS PA: Hypertension genetics, single nucleotide polymorphisms, and the common disease:common variant hypothesis. Hypertension (2002) 39(2 Pt 2):323-331.
    • (2002) Hypertension , vol.39 , Issue.2 PART 2 , pp. 323-331
    • Doris, P.A.1
  • 29
    • 0041506933 scopus 로고    scopus 로고
    • Pharmacology and physiology of human adrenergic receptor polymorphisms
    • SMALL KM, MCGRAW DW, LIGGETT SB: Pharmacology and physiology of human adrenergic receptor polymorphisms. Ann. Rev. Pharmacol. Toxicol. (2003) 43:381-411.
    • (2003) Ann. Rev. Pharmacol. Toxicol. , vol.43 , pp. 381-411
    • Small, K.M.1    Mcgraw, D.W.2    Liggett, S.B.3
  • 30
    • 0035783156 scopus 로고    scopus 로고
    • Genetic variations in human G protein-coupled receptors: Implications for drug therapy
    • SADEE W, HOEG E, LUCAS J, WANG D: Genetic variations in human G protein-coupled receptors: implications for drug therapy. AAPS PharmSci. (2001) 3(3):E22.
    • (2001) AAPS PharmSci. , vol.3 , Issue.3
    • Sadee, W.1    Hoeg, E.2    Lucas, J.3    Wang, D.4
  • 31
    • 1542347133 scopus 로고    scopus 로고
    • Autonomic nervous system pharmacogenomics: A progress report
    • KIRSTEIN SL, INSEL PA: Autonomic nervous system pharmacogenomics: a progress report. Pharmacol. Rev. (2004) 56(1):31-52.
    • (2004) Pharmacol. Rev. , vol.56 , Issue.1 , pp. 31-52
    • Kirstein, S.L.1    Insel, P.A.2
  • 32
    • 22944487986 scopus 로고    scopus 로고
    • Multiple signaling states of G-protein-coupled receptors
    • PEREZ DM, KARNIK SS: Multiple signaling states of G-protein-coupled receptors. Pharmacol. Rev. (2005) 57(2):147-161.
    • (2005) Pharmacol. Rev. , vol.57 , Issue.2 , pp. 147-161
    • Perez, D.M.1    Karnik, S.S.2
  • 33
    • 14644387575 scopus 로고    scopus 로고
    • Emerging role of homo- and heterodimerization in G-protein-coupled receptor biosynthesis and maturation
    • BULENGER S, MARULLO S, BOUVIER M: Emerging role of homo- and heterodimerization in G-protein-coupled receptor biosynthesis and maturation. Trends Pharmacol. Sci. (2005) 26(3):131-137.
    • (2005) Trends Pharmacol. Sci. , vol.26 , Issue.3 , pp. 131-137
    • Bulenger, S.1    Marullo, S.2    Bouvier, M.3
  • 34
    • 0035040530 scopus 로고    scopus 로고
    • Genetic variations and polymorphisms of G protein-coupled receptors: Functional and therapeutic implications
    • RANA BK, SHIINA T, INSEL PA. Genetic variations and polymorphisms of G protein-coupled receptors: functional and therapeutic implications. Ann. Rev. Pharmacol. Toxicol. (2001) 41:593-624.
    • (2001) Ann. Rev. Pharmacol. Toxicol. , vol.41 , pp. 593-624
    • Rana, B.K.1    Shiina, T.2    Insel, P.A.3
  • 35
    • 2642563503 scopus 로고    scopus 로고
    • Human genes that limit AIDS
    • O'BRIEN SJ, NELSON GW: Human genes that limit AIDS. Nat. Genet. (2004) 36(6):565-574.
    • (2004) Nat. Genet. , vol.36 , Issue.6 , pp. 565-574
    • O'Brien, S.J.1    Nelson, G.W.2
  • 36
    • 1842579451 scopus 로고    scopus 로고
    • Patterns of ethnic diversity among the genes that influence AIDS
    • (Spec No. 1)
    • WINKLER C, AN P, O'BRIEN SJ: Patterns of ethnic diversity among the genes that influence AIDS. Hum. Mol. Genet. (2004) 13(Spec. No. 1):R9-R19.
    • (2004) Hum. Mol. Genet. , vol.13
    • Winkler, C.1    An, P.2    O'Brien, S.J.3
  • 38
    • 0032511573 scopus 로고    scopus 로고
    • CCR5 promoter polymorphism and HIV-1 disease progression. Multicenter AIDS Cohort Study (MACS)
    • MCDERMOTT DH, ZIMMERMAN PA, GUIGNARD F, KLEEBERGER CA, LEITMAN SF, MURPHY PM: CCR5 promoter polymorphism and HIV-1 disease progression. Multicenter AIDS Cohort Study (MACS). Lancet (1998) 352(9131):866-870.
    • (1998) Lancet , vol.352 , Issue.9131 , pp. 866-870
    • Mcdermott, D.H.1    Zimmerman, P.A.2    Guignard, F.3    Kleeberger, C.A.4    Leitman, S.F.5    Murphy, P.M.6
  • 39
    • 0032545205 scopus 로고    scopus 로고
    • Screening the human bradykinin B2 receptor gene in patients with cardiovascular diseases: Identification of a functional mutation in the promoter and a new coding variant (T21M)
    • ERDMANN J, HEGEMANN N, WEIDEMANN A et al.: Screening the human bradykinin B2 receptor gene in patients with cardiovascular diseases: identification of a functional mutation in the promoter and a new coding variant (T21M). Am. J. Med. Genet. (1998) 80(5):521-525.
    • (1998) Am. J. Med. Genet. , vol.80 , Issue.5 , pp. 521-525
    • Erdmann, J.1    Hegemann, N.2    Weidemann, A.3
  • 40
    • 0242473901 scopus 로고    scopus 로고
    • Angiotensin II Type 2 receptor gene polymorphisms and essential hypertension
    • ZHANG Y, ZHANG KX, WANG GL, HUANG W, ZHU DL: Angiotensin II Type 2 receptor gene polymorphisms and essential hypertension. Acta Pharmacol. Sin. (2003) 24(11):1089-1093.
    • (2003) Acta Pharmacol. Sin. , vol.24 , Issue.11 , pp. 1089-1093
    • Zhang, Y.1    Zhang, K.X.2    Wang, G.L.3    Huang, W.4    Zhu, D.L.5
  • 41
    • 4444293419 scopus 로고    scopus 로고
    • Polymorphisms of cardiac presynaptic alpha2C adrenergic receptors: Diverse intragenic variability with haplotype-specific functional effects
    • SMALL KM, MIALET-PEREZ J, SEMAN CA, THEISS CT, BROWN KM, LIGGETT SB: Polymorphisms of cardiac presynaptic alpha2C adrenergic receptors: Diverse intragenic variability with haplotype-specific functional effects. Proc. Natl. Acad, Sci. USA (2004) 101(35):13020-13025.
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , Issue.35 , pp. 13020-13025
    • Small, K.M.1    Mialet-Perez, J.2    Seman, C.A.3    Theiss, C.T.4    Brown, K.M.5    Liggett, S.B.6
  • 42
    • 0037057235 scopus 로고    scopus 로고
    • Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure
    • SMALL KM, WAGONER LE, LEVIN AM, KARDIA SL, LIGGETT SB: Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure. N. Engl. J. Med. (2002) 347(15):1135-1142.
    • (2002) N. Engl. J. Med. , vol.347 , Issue.15 , pp. 1135-1142
    • Small, K.M.1    Wagoner, L.E.2    Levin, A.M.3    Kardia, S.L.4    Liggett, S.B.5
  • 43
    • 0030933979 scopus 로고    scopus 로고
    • A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia
    • ARINAMI T, GAO M, HAMAGUCHI H, TORU M: A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum. Mol. Genet. (1997) 6(4):577-582.
    • (1997) Hum. Mol. Genet. , vol.6 , Issue.4 , pp. 577-582
    • Arinami, T.1    Gao, M.2    Hamaguchi, H.3    Toru, M.4
  • 44
    • 0033588110 scopus 로고    scopus 로고
    • -141 C del/ins polymorphism of the dopamine receptor 2 gene is associated with schizophrenia in a British population
    • BREEN G, BROWN J, MAUDE S et al: -141 C del/ins polymorphism of the dopamine receptor 2 gene is associated with schizophrenia in a British population. Am. J. Med. Genet. (1999) 88(4):407-410.
    • (1999) Am. J. Med. Genet. , vol.88 , Issue.4 , pp. 407-410
    • Breen, G.1    Brown, J.2    Maude, S.3
  • 45
    • 0033542110 scopus 로고    scopus 로고
    • A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia
    • OKUYAMA Y, ISHIGURO H, TORU M, ARINAMI T. A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia. Biochem. Biophys. Res. Commun. (1999) 258(2):292-295.
    • (1999) Biochem. Biophys. Res. Commun. , vol.258 , Issue.2 , pp. 292-295
    • Okuyama, Y.1    Ishiguro, H.2    Toru, M.3    Arinami, T.4
  • 47
    • 0028145741 scopus 로고
    • The peptide product of a 5′ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis
    • PAROLA AL, KOBILKA BK: The peptide product of a 5′ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis. J. Biol. Chem. (1994) 269(6):4497-4505.
    • (1994) J. Biol. Chem. , vol.269 , Issue.6 , pp. 4497-4505
    • Parola, A.L.1    Kobilka, B.K.2
  • 48
    • 0032442150 scopus 로고    scopus 로고
    • Polymorphisms of the 5′ leader cistron of the human beta2-adrenergic receptor regulate receptor expression
    • MCGRAW DW, FORBES SL, KRAMER LA, LIGGETT SB: Polymorphisms of the 5′ leader cistron of the human beta2-adrenergic receptor regulate receptor expression. J. Clin. Invest. (1998) 102(11):1927-1932.
    • (1998) J. Clin. Invest. , vol.102 , Issue.11 , pp. 1927-1932
    • Mcgraw, D.W.1    Forbes, S.L.2    Kramer, L.A.3    Liggett, S.B.4
  • 49
    • 0033971099 scopus 로고    scopus 로고
    • A cluster of single nucleotide polymorphisms in the 5′-leader of the human dopamine D3 receptor gene (DRD3) and its relationship to schizophrenia
    • SIVAGNANASUNDARAM S, MORRIS AG, GAITONDE EJ, MCKENNA PJ, MOLLON JD, HUNT DM: A cluster of single nucleotide polymorphisms in the 5′-leader of the human dopamine D3 receptor gene (DRD3) and its relationship to schizophrenia. Neurosci. Lett. (2000) 279(1):13-16.
    • (2000) Neurosci. Lett. , vol.279 , Issue.1 , pp. 13-16
    • Sivagnanasundaram, S.1    Morris, A.G.2    Gaitonde, E.J.3    Mckenna, P.J.4    Mollon, J.D.5    Hunt, D.M.6
  • 50
    • 0034641736 scopus 로고    scopus 로고
    • Complex promoter and coding region beta 2-adrenergic receptor haplotypes after receptor expression and predict in vivo responsiveness
    • DRYSDALE CM, MCGRAW DW, STACK CB et al.: Complex promoter and coding region beta 2-adrenergic receptor haplotypes after receptor expression and predict in vivo responsiveness. Proc. Natl. Acad. Sci. USA (2000) 97(19):10483-10488.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , Issue.19 , pp. 10483-10488
    • Drysdale, C.M.1    Mcgraw, D.W.2    Stack, C.B.3
  • 51
    • 0033311157 scopus 로고    scopus 로고
    • Polymorphism in the 5′-leader cistron of the beta2-adrenergic receptor gene associated with obesity and Type 2 diabetes
    • YAMADA K, ISHIYAMA-SHIGEMOTO S, ICHIKAWA F et al.: Polymorphism in the 5′-leader cistron of the beta2-adrenergic receptor gene associated with obesity and Type 2 diabetes. J. Clin. Endocrinol. Metab. (1999) 84(5):1754-1757.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , Issue.5 , pp. 1754-1757
    • Yamada, K.1    Ishiyama-Shigemoto, S.2    Ichikawa, F.3
  • 52
    • 0034101197 scopus 로고    scopus 로고
    • The 3′ untfanslated region of messenger RNA: A molecular 'hotspot' for pathology?
    • CONNE B, STUTZ A, VASSALLI JD: The 3′ untfanslated region of messenger RNA: A molecular 'hotspot' for pathology? Nat. Med, (2000) 6(6):637-641.
    • (2000) Nat. Med. , vol.6 , Issue.6 , pp. 637-641
    • Conne, B.1    Stutz, A.2    Vassalli, J.D.3
  • 53
    • 0032509857 scopus 로고    scopus 로고
    • Association of angiotensin II Type 1 receptor polymorphism with resistant essential hypertension
    • SZOMBATHY T, SZALAI C, KATALIN B, PALICZ T, ROMICS L, CSASZAR A. Association of angiotensin II Type 1 receptor polymorphism with resistant essential hypertension. Clin. Chim. Acta. (1998) 269(1):91-100.
    • (1998) Clin. Chim. Acta. , vol.269 , Issue.1 , pp. 91-100
    • Szombathy, T.1    Szalai, C.2    Katalin, B.3    Palicz, T.4    Romics, L.5    Csaszar, A.6
  • 54
    • 0028290165 scopus 로고
    • Angiotensin II Type 1 receptor gene polymorphisms in human essential hypertension
    • BONNARDEAUX A, DAVIES E, JEUNEMAITRE X et al.: Angiotensin II Type 1 receptor gene polymorphisms in human essential hypertension. Hypertension (1994) 24(1):63-69.
    • (1994) Hypertension , vol.24 , Issue.1 , pp. 63-69
    • Bonnardeaux, A.1    Davies, E.2    Jeunemaitre, X.3
  • 55
    • 0031044981 scopus 로고    scopus 로고
    • Association of angiotensin II Type 1 receptor gene polymorphism with essential hypertension
    • WANG WY, ZEE RY, MORRIS BJ: Association of angiotensin II Type 1 receptor gene polymorphism with essential hypertension. Clin. Genet. (1997) 51001-34.
    • (1997) Clin. Genet. , vol.51 , Issue.1 , pp. 31-34
    • Wang, W.Y.1    Zee, R.Y.2    Morris, B.J.3
  • 56
    • 0033406766 scopus 로고    scopus 로고
    • Angiotensin II Type 1 receptor gene polymorphism predicts response to losartan and angiotensin II
    • MILLER JA, THAI K, SCHOLEY JW- Angiotensin II Type 1 receptor gene polymorphism predicts response to losartan and angiotensin II. Kidney Int. (1999) 56(6):2173-2180.
    • (1999) Kidney Int. , vol.56 , Issue.6 , pp. 2173-2180
    • Miller, J.A.1    Thai, K.2    Scholey, J.W.3
  • 57
    • 0032212736 scopus 로고    scopus 로고
    • Angiotensin-converting enzyme and angiotensin II receptor 1 polymorphisms: Association with early coronary disease
    • ALVAREZ R, REGUERO JR, BATALLA A et al.: Angiotensin-converting enzyme and angiotensin II receptor 1 polymorphisms: association with early coronary disease. Cardiovasc. Res. (1998) 40(2):375-379.
    • (1998) Cardiovasc. Res. , vol.40 , Issue.2 , pp. 375-379
    • Alvarez, R.1    Reguero, J.R.2    Batalla, A.3
  • 58
    • 8544279584 scopus 로고    scopus 로고
    • Influence of the dopamine D2 receptor (DRD2) genotype on neuroadaptive effects of alcohol and the clinical outcome of alcoholism
    • FINCKH U, ROMMELSPACHER H, KUHN S et al.: Influence of the dopamine D2 receptor (DRD2) genotype on neuroadaptive effects of alcohol and the clinical outcome of alcoholism. Pharmacogenetics. (1997) 7(4):271-281.
    • (1997) Pharmacogenetics , vol.7 , Issue.4 , pp. 271-281
    • Finckh, U.1    Rommelspacher, H.2    Kuhn, S.3
  • 59
    • 20144383702 scopus 로고    scopus 로고
    • Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment
    • DE LUCA V, VINCENT JB, MULLER DJ et al.: Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment. Pharmacol. Res. (2005) 51(4):381-384.
    • (2005) Pharmacol. Res. , vol.51 , Issue.4 , pp. 381-384
    • De Luca, V.1    Vincent, J.B.2    Muller, D.J.3
  • 60
    • 0029817927 scopus 로고    scopus 로고
    • Molecular characterization of a novel human endothelin receptor splice variant
    • ELSHOURBAGY NA, ADAMOU JE, GAGNON AW, WU HL, PULLEN M, NAMBI P: Molecular characterization of a novel human endothelin receptor splice variant. J. Biol. Chem. (1996) 271(41):25300-25307.
    • (1996) J. Biol. Chem. , vol.271 , Issue.41 , pp. 25300-25307
    • Elshourbagy, N.A.1    Adamou, J.E.2    Gagnon, A.W.3    Wu, H.L.4    Pullen, M.5    Nambi, P.6
  • 61
    • 15444340724 scopus 로고    scopus 로고
    • The calcium sensing receptor and its alternatively spliced form in keratinocyte differentiation
    • ODA Y, TU CL, PILLAI S, BIKLE DD: The calcium sensing receptor and its alternatively spliced form in keratinocyte differentiation. J. Biol. Chem. (1998) 273(36):23344-23352.
    • (1998) J. Biol. Chem. , vol.273 , Issue.36 , pp. 23344-23352
    • Oda, Y.1    Tu, C.L.2    Pillai, S.3    Bikle, D.D.4
  • 62
    • 0032938367 scopus 로고    scopus 로고
    • Novel brain-specific 5-HT4 receptor splice variants show marked constitutive activity: Role of the C-terminal intracellular domain
    • CLAEYSEN S, SEBBEN M, BECAMEL C, BOCKAERT J, DUMUIS A. Novel brain-specific 5-HT4 receptor splice variants show marked constitutive activity: role of the C-terminal intracellular domain. Mol. Pharmacol. (1999) 55(5):910-920.
    • (1999) Mol. Pharmacol. , vol.55 , Issue.5 , pp. 910-920
    • Claeysen, S.1    Sebben, M.2    Becamel, C.3    Bockaert, J.4    Dumuis, A.5
  • 63
    • 0032216590 scopus 로고    scopus 로고
    • 5-HT4 receptors: Gene, transduction and effects on olfactory memory
    • BOCKAERT J, CLAEYSEN S, SEBBEN M, DUMUIS A: 5-HT4 receptors; gene, transduction and effects on olfactory memory. Ann. NY Acad Sci. (1998) 861:1-15.
    • (1998) Ann. NY Acad. Sci. , vol.861 , pp. 1-15
    • Bockaert, J.1    Claeysen, S.2    Sebben, M.3    Dumuis, A.4
  • 64
    • 17844384227 scopus 로고    scopus 로고
    • Regulation of serotonin 2C receptor pre-mRNA editing by serotonin
    • SCHMAUSS C: Regulation of serotonin 2C receptor pre-mRNA editing by serotonin. Int. Rev. Neurobiol. (2005) 63:83-100.
    • (2005) Int. Rev. Neurobiol. , vol.63 , pp. 83-100
    • Schmauss, C.1
  • 65
    • 0030916712 scopus 로고    scopus 로고
    • Regulation of serotonin-2C receptor G-protein coupling by RNA editing
    • BURNS CM, CHU H, RUETER SM et al.: Regulation of serotonin-2C receptor G-protein coupling by RNA editing. Nature (1997) 387(6630):303-308.
    • (1997) Nature , vol.387 , Issue.6630 , pp. 303-308
    • Burns, C.M.1    Chu, H.2    Rueter, S.M.3
  • 66
    • 0033515573 scopus 로고    scopus 로고
    • RNA editing of the human serotonin 5-hydroxytryptamine 2C receptor silences constitutive activity
    • NISWENDER CM, COPELAND SC, HERRICK-DAVIS K, EMESON RB, SANDERS-BUSH E: RNA editing of the human serotonin 5-hydroxytryptamine 2C receptor silences constitutive activity. J. Biol. Chem. (1999) 274(14):9472-9478.
    • (1999) J. Biol. Chem. , vol.274 , Issue.14 , pp. 9472-9478
    • Niswender, C.M.1    Copeland, S.C.2    Herrick-Davis, K.3    Emeson, R.B.4    Sanders-Bush, E.5
  • 67
    • 1642495621 scopus 로고    scopus 로고
    • RNA editing of the human serotonin 5-HT2C receptor disrupts transactivation of the small G-protein RhoA
    • MCGREW L, PRICE RD, RACKLER E, CHANG MS, SANDERS-BUSH E: RNA editing of the human serotonin 5-HT2C receptor disrupts transactivation of the small G-protein RhoA. Mol. Pharmacol. (2004) 65(1):252-256.
    • (2004) Mol. Pharmacol. , vol.65 , Issue.1 , pp. 252-256
    • McGrew, L.1    Price, R.D.2    Rackler, E.3    Chang, M.S.4    Sanders-Bush, E.5
  • 68
    • 24344487961 scopus 로고    scopus 로고
    • The regulatory mechanisms of export trafficking of G protein-coupled receptors
    • DUVERNAY MT, FILIPEANU CM, WU G: The regulatory mechanisms of export trafficking of G protein-coupled receptors. Cell. Signal. (2005) 17(12):1457-1465.
    • (2005) Cell. Signal. , vol.17 , Issue.12 , pp. 1457-1465
    • Duvernay, M.T.1    Filipeanu, C.M.2    Wu, G.3
  • 69
    • 0027254790 scopus 로고
    • Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa
    • BUNGE S, WEDEMANN H, DAVID D et al.: Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. Genomics (1993) 17(1):230-233.
    • (1993) Genomics , vol.17 , Issue.1 , pp. 230-233
    • Bunge, S.1    Wedemann, H.2    David, D.3
  • 70
    • 0027452380 scopus 로고
    • A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease
    • SULLIVAN LJ, MAKRIS GS, DICKINSON P et al.: A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease. Arch. Ophthalmol. (1993) 111(11):1512-1517.
    • (1993) Arch. Ophthalmol. , vol.111 , Issue.11 , pp. 1512-1517
    • Sullivan, L.J.1    Makris, G.S.2    Dickinson, P.3
  • 71
    • 13144261678 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: Possible implications for opiate addiction
    • BOND C, LAFORGE KS, TIAN M et al.: Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction. Proc. Natl. Acad. Sci. USA (1998) 95(16):9608-9613.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , Issue.16 , pp. 9608-9613
    • Bond, C.1    Laforge, K.S.2    Tian, M.3
  • 72
    • 0031972413 scopus 로고    scopus 로고
    • The molecular basis of nephrogenic diabetes insipidus
    • OKSCHE A, ROSENTHAL W: The molecular basis of nephrogenic diabetes insipidus. J. Mol. Med. (1998) 76(5):326-337.
    • (1998) J. Mol. Med. , vol.76 , Issue.5 , pp. 326-337
    • Oksche, A.1    Rosenthal, W.2
  • 73
    • 0028866929 scopus 로고
    • Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin Type 2 receptor in patients with X-linked nephrogenic diabetes insipidus
    • TSUKAGUCHI H, MATSUBARA H, TAKETANUI S, MORI Y, SEIDO T, INADA M: Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin Type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J. Clin. Invest. (1995) 96(4):2043-2050.
    • (1995) J. Clin. Invest. , vol.96 , Issue.4 , pp. 2043-2050
    • Tsukaguchi, H.1    Matsubara, H.2    Taketanui, S.3    Mori, Y.4    Seido, T.5    Inada, M.6
  • 74
    • 0029666267 scopus 로고    scopus 로고
    • A peptide derived from a beta2-adrenergic receptor transmembrane domain inhibits both receptor dimerization and activation
    • HEBERT TE, MOFFETT S, MORELLO JP et al.: A peptide derived from a beta2-adrenergic receptor transmembrane domain inhibits both receptor dimerization and activation. J. Biol. Chem. (1996) 271(27):16384-16392.
    • (1996) J. Biol. Chem. , vol.271 , Issue.27 , pp. 16384-16392
    • Hebert, T.E.1    Moffett, S.2    Morello, J.P.3
  • 75
    • 0032483541 scopus 로고    scopus 로고
    • Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of CaR-transfectcd HEK293 cells
    • BAI M, TRIVEDI S, BROWN EM: Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of CaR-transfectcd HEK293 cells. J. Biol. Chem. (1998) 273(36):23605-23610.
    • (1998) J. Biol. Chem. , vol.273 , Issue.36 , pp. 23605-23610
    • Bai, M.1    Trivedi, S.2    Brown, E.M.3
  • 76
    • 0030838449 scopus 로고    scopus 로고
    • Sporadic hypoparathyroidism caused by de novo gain-of-function mutations of the Ca(2+)-sensing receptor
    • DE LUCA F, RAY K, MANCILLA EE et al.: Sporadic hypoparathyroidism caused by de novo gain-of-function mutations of the Ca(2+)-sensing receptor. J. Clin. Endocrinol. Metab. (1997) 82(8):2710-2715.
    • (1997) J. Clin. Endocrinol. Metab. , vol.82 , Issue.8 , pp. 2710-2715
    • De Luca, F.1    Ray, K.2    Mancilla, E.E.3
  • 77
    • 0031727918 scopus 로고    scopus 로고
    • Familial hypoparathyroidism: Identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor
    • WATANABE T, BAI M, LANE CR et al.: Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J. Clin. Endocrinol. Metab. (1998) 83(7):2497-2502.
    • (1998) J. Clin. Endocrinol. Metab. , vol.83 , Issue.7 , pp. 2497-2502
    • Watanabe, T.1    Bai, M.2    Lane, C.R.3
  • 79
    • 6944226330 scopus 로고    scopus 로고
    • His452Tyr polymorphism in the human 5-HT2A receptor destabilizes the signaling conformation
    • HAZELWOOD LA, SANDERS-BUSH E: His452Tyr polymorphism in the human 5-HT2A receptor destabilizes the signaling conformation. Mol. Pharmacol. (2004) 66(5):1293-1300.
    • (2004) Mol. Pharmacol. , vol.66 , Issue.5 , pp. 1293-1300
    • Hazelwood, L.A.1    Sanders-Bush, E.2
  • 80
    • 0035895936 scopus 로고    scopus 로고
    • Polymorphic deletion of three intracellular acidic residues of the alpha 2B-adrenergic receptor decreases G protein-coupled receptor kinase-mediated phosphorylation and desensitization
    • SMALL KM, BROWN KM, FORBES SL, LIGGETT SB: Polymorphic deletion of three intracellular acidic residues of the alpha 2B-adrenergic receptor decreases G protein-coupled receptor kinase-mediated phosphorylation and desensitization. J. Biol. Chem. (2001) 276(7):4917-4922.
    • (2001) J. Biol. Chem. , vol.276 , Issue.7 , pp. 4917-4922
    • Small, K.M.1    Brown, K.M.2    Forbes, S.L.3    Liggett, S.B.4
  • 81
    • 0037330909 scopus 로고    scopus 로고
    • The Gln27Glu beta2-adrenoceptor polymorphism slows the onset of desensitization of cardiac functional responses in vivo
    • BRUCK H, LEINEWEBER K, BUSCHER R et al.: The Gln27Glu beta2-adrenoceptor polymorphism slows the onset of desensitization of cardiac functional responses in vivo. Pharmacogeneties (2003) 13(2):59-66.
    • (2003) Pharmacogenetics , vol.13 , Issue.2 , pp. 59-66
    • Bruck, H.1    Leineweber, K.2    Buscher, R.3
  • 82
    • 0142232036 scopus 로고    scopus 로고
    • Thr164Ile polymorphism of the human beta2-adrenoceptor exhibits blunted desensitization of cardiac functional responses in vivo
    • BRUCK H, LEINEWEBER K, ULRICH A et al.: Thr164Ile polymorphism of the human beta2-adrenoceptor exhibits blunted desensitization of cardiac functional responses in vivo. Am. J. Pbysiol, Heart Circ. Physiol. (2003) 285(5):H2034-H2038.
    • (2003) Am. J. Physiol. Heart Circ. Physiol. , vol.285 , Issue.5
    • Bruck, H.1    Leineweber, K.2    Ulrich, A.3
  • 83
    • 0030947520 scopus 로고    scopus 로고
    • Agonist-promoted down-regulation and functional desensitization in two naturally occurring variants of the human serotonin1A receptor
    • ROTONDO A, NIELSEN DA, NAKHAI B, HULIHAN-GIBLIN B, BOLOS A, GOLDMAN D: Agonist-promoted down-regulation and functional desensitization in two naturally occurring variants of the human serotonin1A receptor. Neuropsychopharmacology (1997) 17(1):18-26.
    • (1997) Neuropsychopharmacology , vol.17 , Issue.1 , pp. 18-26
    • Rotondo, A.1    Nielsen, D.A.2    Nakhai, B.3    Hulihan-Giblin, B.4    Bolos, A.5    Goldman, D.6
  • 84
    • 0029339086 scopus 로고
    • Influence of beta 2-adrenergic receptor genotypes on signal transduction in human airway smooth muscle cells
    • GREEN SA, TURKI J, BEJARANO P, HALL IP, LIGGETT SB: Influence of beta 2-adrenergic receptor genotypes on signal transduction in human airway smooth muscle cells. Am. J. Respir. Cell Mol. Biol. (1995) 13(1):25-33.
    • (1995) Am. J. Respir. Cell Mol. Biol. , vol.13 , Issue.1 , pp. 25-33
    • Green, S.A.1    Turki, J.2    Bejarano, P.3    Hall, I.P.4    Liggett, S.B.5
  • 85
    • 0028068550 scopus 로고
    • Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties
    • GREEN SA, TURKI J, INNIS M, LIGGETT SB: Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry (1994) 33(32):9414-9419.
    • (1994) Biochemistry , vol.33 , Issue.32 , pp. 9414-9419
    • Green, S.A.1    Turki, J.2    Innis, M.3    Liggett, S.B.4
  • 86
    • 0036020992 scopus 로고    scopus 로고
    • beta2 adrenoceptor gene polymorphisms in cystic fibrosis lung disease
    • BUSCHER R, EILMES KJ, GRASEMANN H et al.: beta2 adrenoceptor gene polymorphisms in cystic fibrosis lung disease. Pharmacogenetics (2002) 12(5):347-353.
    • (2002) Pharmacogenetics , vol.12 , Issue.5 , pp. 347-353
    • Buscher, R.1    Eilmes, K.J.2    Grasemann, H.3
  • 87
    • 18744398747 scopus 로고    scopus 로고
    • Beta2-adrenoceptor gene polymorphisms
    • BRODDE OE, LEINEWEBER K: Beta2-adrenoceptor gene polymorphisms. Pharmacogenet. Genomics (2005) 15(5):267-275.
    • (2005) Pharmacogenet. Genomics , vol.15 , Issue.5 , pp. 267-275
    • Brodde, O.E.1    Leineweber, K.2
  • 88
    • 6944232728 scopus 로고    scopus 로고
    • Use of regularly scheduled albuterol treatment in asthma: Genotype-stratified, randomised, placebo-controlled cross-over trial
    • ISRAEL E, CHINCHILLI VM, FORD JG et al.: Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial. Lancet (2004) 364(9444):1505-1512.
    • (2004) Lancet , vol.364 , Issue.9444 , pp. 1505-1512
    • Israel, E.1    Chinchilli, V.M.2    Ford, J.G.3
  • 89
    • 1642495639 scopus 로고    scopus 로고
    • Efficacy as a vector: The relative prevalence and paucity of inverse agonism
    • KENAKIN T: Efficacy as a vector: the relative prevalence and paucity of inverse agonism. Mol. Pharmacol. (2004) 65(1):2-11.
    • (2004) Mol. Pharmacol. , vol.65 , Issue.1 , pp. 2-11
    • Kenakin, T.1
  • 90
    • 0028891649 scopus 로고
    • Brief report: Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene
    • KOPP P, VAN SANDE J, PARMA J et al.: Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N. Engl. J. Med. (1995) 332(3):150-154.
    • (1995) N. Engl. J. Med. , vol.332 , Issue.3 , pp. 150-154
    • Kopp, P.1    Van Sande, J.2    Parma, J.3
  • 91
    • 0030735543 scopus 로고    scopus 로고
    • Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters
    • HOLZAPFEL HP, FUHRER D, WONEROW P, WEINLAND G, SCHERBAUM VA, PASCHKE R: Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters. J. Clin. Endocrinol. Metab. (1997) 82(12):4229-4233.
    • (1997) J. Clin. Endocrinol. Metab. , vol.82 , Issue.12 , pp. 4229-4233
    • Holzapfel, H.P.1    Fuhrer, D.2    Wonerow, P.3    Weinland, G.4    Scherbaum, V.A.5    Paschke, R.6
  • 92
    • 0842329750 scopus 로고    scopus 로고
    • Modification of human 5-HT(2C) receptor function by Cys23Ser, an abundant, naturally occurring aminoacid substitution
    • OKADA M, NORTHUP JK, OZAKI N, RUSSELL JT, LINNOILA M, GOLDMAN D: Modification of human 5-HT(2C) receptor function by Cys23Ser, an abundant, naturally occurring aminoacid substitution. Mol. Psychiatry (2004) 9(1):55-64.
    • (2004) Mol. Psychiatry , vol.9 , Issue.1 , pp. 55-64
    • Okada, M.1    Northup, J.K.2    Ozaki, N.3    Russell, J.T.4    Linnoila, M.5    Goldman, D.6
  • 93
    • 0029551796 scopus 로고
    • Association between clozapine response and allelic variation in the 5-HT2C receptor gene
    • SODHI MS, ARRANZ MJ, CURTIS D et al.: Association between clozapine response and allelic variation in the 5-HT2C receptor gene. Neuroreport (1995) 7(1):169-172.
    • (1995) Neuroreport , vol.7 , Issue.1 , pp. 169-172
    • Sodhi, M.S.1    Arranz, M.J.2    Curtis, D.3
  • 94
    • 0030060811 scopus 로고    scopus 로고
    • Dopamine D4 receptor variant in Africans, D4valine194glycine, is insensitive to dopamine and clozapine: Report of a homozygous individual
    • LIU IS, SEEMAN P, SANYAL S et al.: Dopamine D4 receptor variant in Africans, D4valine194glycine, is insensitive to dopamine and clozapine: report of a homozygous individual. Am. J. Med. Genet. (1996) 61(3):277-282.
    • (1996) Am. J. Med. Genet. , vol.61 , Issue.3 , pp. 277-282
    • Liu, I.S.1    Seeman, P.2    Sanyal, S.3
  • 95
    • 0032906973 scopus 로고    scopus 로고
    • A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia
    • OKAZAKI R, CHIKATSU N, NAKATSU M et al.: A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J. Clin. Endocrinol. Metab. (1999) 84(1):363-366.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , Issue.1 , pp. 363-366
    • Okazaki, R.1    Chikatsu, N.2    Nakatsu, M.3
  • 96
    • 0028618372 scopus 로고
    • A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
    • PUFFENBERGER EG, HOSODA K, WASHINGTON SS et al.: A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell (1994) 79(7):1257-1266.
    • (1994) Cell , vol.79 , Issue.7 , pp. 1257-1266
    • Puffenberger, E.G.1    Hosoda, K.2    Washington, S.S.3
  • 97
    • 0028438726 scopus 로고
    • Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant
    • ROSENTHAL W, SEIBOLD A, ANTARAMMN A et al.: Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant. Celll. Mol. Biol. (Noisy-le-grand). (1994) 40(3):429-436.
    • (1994) Cell. Mol. Biol. (Noisy-le-grand) , vol.40 , Issue.3 , pp. 429-436
    • Rosenthal, W.1    Seibold, A.2    Antarammn, A.3
  • 99
    • 0033943654 scopus 로고    scopus 로고
    • Stoichiometry and compartmentation in G protein-coupled receptor signaling: Implications for therapeutic interventions involving G(s)
    • OSTROM RS, POST SR, INSEL PA: Stoichiometry and compartmentation in G protein-coupled receptor signaling: implications for therapeutic interventions involving G(s). J. Pharmacol. Exp. Ther. (2000) 294(2):407-412.
    • (2000) J. Pharmacol. Exp. Ther. , vol.294 , Issue.2 , pp. 407-412
    • Ostrom, R.S.1    Post, S.R.2    Insel, P.A.3
  • 100
    • 17644402459 scopus 로고    scopus 로고
    • Transduction of receptor signals by beta-arrestins
    • LEFKOWITZ RJ, SHENOY SK: Transduction of receptor signals by beta-arrestins. Science (2005) 308(5721):512-517.
    • (2005) Science , vol.308 , Issue.5721 , pp. 512-517
    • Lefkowitz, R.J.1    Shenoy, S.K.2
  • 101
    • 11144357144 scopus 로고    scopus 로고
    • Characterization of a common susceptibility locus for asthma-related traits
    • LAITINEN T, POLVI A, RYDMAN P et al.: Characterization of a common susceptibility locus for asthma-related traits. Science (2004) 304(5668):300-304.
    • (2004) Science , vol.304 , Issue.5668 , pp. 300-304
    • Laitinen, T.1    Polvi, A.2    Rydman, P.3
  • 102
    • 20844448390 scopus 로고    scopus 로고
    • Haplorypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma
    • MELEN E, BRUCE S, DOEKES G et al.: Haplorypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma. Am. J. Respir. Crit. Care Med. (2005) 171(10):1089-1095.
    • (2005) Am. J. Respir. Crit. Care Med. , vol.171 , Issue.10 , pp. 1089-1095
    • Melen, E.1    Bruce, S.2    Doekes, G.3
  • 103
    • 0037434991 scopus 로고    scopus 로고
    • Free fatty acids regulate insulin secretion from pancreatic beta cells through GPR40
    • ITOH Y, KAWAMATA Y, HARADA M et al.: Free fatty acids regulate insulin secretion from pancreatic beta cells through GPR40. Nature (2003) 422(6928):173-176.
    • (2003) Nature , vol.422 , Issue.6928 , pp. 173-176
    • Itoh, Y.1    Kawamata, Y.2    Harada, M.3
  • 104
    • 19944434042 scopus 로고    scopus 로고
    • Studies of relationships between variation of the human G protein-coupled receptor 40 Gene and Type 2 diabetes and insulin release
    • HAMID YH, VISSING H, HOLST B et al.: Studies of relationships between variation of the human G protein-coupled receptor 40 Gene and Type 2 diabetes and insulin release. Diabet. Med. (2005) 22(1):74-80.
    • (2005) Diabet. Med. , vol.22 , Issue.1 , pp. 74-80
    • Hamid, Y.H.1    Vissing, H.2    Holst, B.3
  • 105
    • 13844266013 scopus 로고    scopus 로고
    • GPR40 gene Arg211His polymorphism may contribute to the variation of insulin secretory capacity in Japanese men
    • OGAWA T, HIROSE H, MIYASHITA K, SAITO I, SARUTA T: GPR40 gene Arg211His polymorphism may contribute to the variation of insulin secretory capacity in Japanese men. Metabolism (2005) 54(3):296-299.
    • (2005) Metabolism , vol.54 , Issue.3 , pp. 296-299
    • Ogawa, T.1    Hirose, H.2    Miyashita, K.3    Saito, I.4    Saruta, T.5
  • 106
    • 20844451579 scopus 로고    scopus 로고
    • Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor
    • THOMSON PA, WRAY NR, THOMSON AM et al.: Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor. Mol. Psychiatry (2005) 10(5):470-478.
    • (2005) Mol. Psychiatry , vol.10 , Issue.5 , pp. 470-478
    • Thomson, P.A.1    Wray, N.R.2    Thomson, A.M.3
  • 107
    • 0141814637 scopus 로고    scopus 로고
    • Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
    • DE ROUX N, GENIN E, CAREL JC, MATSUDA F, CHAUSSAIN JL, MILGROM E: Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc. Natl. Acad. Sci. USA (2003) 100(19):10972-10976.
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , Issue.19 , pp. 10972-10976
    • De Roux, N.1    Genin, E.2    Carel, J.C.3    Matsuda, F.4    Chaussain, J.L.5    Milgrom, E.6
  • 109
    • 15944368215 scopus 로고    scopus 로고
    • Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism
    • SEMPLE RK, ACHERMANN JC, ELLERY J et al.: Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. (2005) 90(3):1849-1855.
    • (2005) J. Clin. Endocrinol. Metab. , vol.90 , Issue.3 , pp. 1849-1855
    • Semple, R.K.1    Achermann, J.C.2    Ellery, J.3
  • 110
    • 6944228197 scopus 로고    scopus 로고
    • Are beta2-adrenoceptor polymorphisms important in asthma-an unravelling story
    • TATTERSFIELD AE, HALL IP: Are beta2-adrenoceptor polymorphisms important in asthma-an unravelling story. Lancet (2004) 364(9444):1464-1466.
    • (2004) Lancet , vol.364 , Issue.9444 , pp. 1464-1466
    • Tattersfield, A.E.1    Hall, I.P.2
  • 111
    • 13944250330 scopus 로고    scopus 로고
    • Pharmacogenetics and response to beta-adrenergic receptor antagonists in heart failure
    • MUSZKAT M, STEIN CM: Pharmacogenetics and response to beta-adrenergic receptor antagonists in heart failure. Clin. Pharmacol. Ther. (2005) 77(3):123-126.
    • (2005) Clin. Pharmacol. Ther. , vol.77 , Issue.3 , pp. 123-126
    • Muszkat, M.1    Stein, C.M.2
  • 112
    • 18744365191 scopus 로고    scopus 로고
    • Human adenosine 2B receptor: SNP discovery and evaluation of expression in patients with cystic fibrosis
    • TANG CM, HOERNING A, BUSCHER R et al.: Human adenosine 2B receptor: SNP discovery and evaluation of expression in patients with cystic fibrosis. Pharmacogenet. Genomics (2005) 15(5):321-327.
    • (2005) Pharmacogenet. Genomics , vol.15 , Issue.5 , pp. 321-327
    • Tang, C.M.1    Hoerning, A.2    Buscher, R.3
  • 113
  • 114
    • 0742321905 scopus 로고    scopus 로고
    • The nature of dominant mutations of rhodopsin and implications for gene therapy
    • WILSON JH, WENSEL TG: The nature of dominant mutations of rhodopsin and implications for gene therapy. Mol. Neurobiol, (2003) 28(2):149-158.
    • (2003) Mol. Neurobiol, , vol.28 , Issue.2 , pp. 149-158
    • Wilson, J.H.1    Wensel, T.G.2
  • 115
    • 2342576807 scopus 로고    scopus 로고
    • GPCR expression in the heart; 'new' receptors in myocytes and fibroblasts
    • TANG CM, INSEL PA: GPCR expression in the heart; 'new' receptors in myocytes and fibroblasts. Trends Cardiovasc. Med. (2004) 14(3):94-99.
    • (2004) Trends Cardiovasc. Med. , vol.14 , Issue.3 , pp. 94-99
    • Tang, C.M.1    Insel, P.A.2
  • 116
    • 10644242682 scopus 로고    scopus 로고
    • Association of the C(-1019)G 5-HT1A functional promoter polymorphism with antidepressant response
    • LEMONDE S, DU L, BAKISH D, HRDINA P, ALBERT PR: Association of the C(-1019)G 5-HT1A functional promoter polymorphism with antidepressant response. Int. J. Neuropsychopharmacol. (2004) 7(4):501-506.
    • (2004) Int. J. Neuropsychopharmacol. , vol.7 , Issue.4 , pp. 501-506
    • Lemonde, S.1    Du, L.2    Bakish, D.3    Hrdina, P.4    Albert, P.R.5
  • 117
    • 0032891794 scopus 로고    scopus 로고
    • Modified ligand binding to the naturally occurring Cys-124 variant of the human serotonin 5-HT1B receptor
    • BRUSS M, BONISCH H, BUHLEN M, NOTHEN MM, PROPPING P, GOTHERT M: Modified ligand binding to the naturally occurring Cys-124 variant of the human serotonin 5-HT1B receptor. Pharmacogenetics (1999) 9(1):95-102.
    • (1999) Pharmacogenetics , vol.9 , Issue.1 , pp. 95-102
    • Bruss, M.1    Bonisch, H.2    Buhlen, M.3    Nothen, M.M.4    Propping, P.5    Gothert, M.6
  • 118
    • 0030911906 scopus 로고    scopus 로고
    • A naturally occurring amino acid substitution of the human serotonin 5-HT2A receptor influences amplitude and timing of intracellular calcium mobilization
    • OZAKI N, MANJI H, LUBIERMAN V et al.: A naturally occurring amino acid substitution of the human serotonin 5-HT2A receptor influences amplitude and timing of intracellular calcium mobilization. J. Neurochem. (1997) 68(5):2186-2193.
    • (1997) J. Neurochem. , vol.68 , Issue.5 , pp. 2186-2193
    • Ozaki, N.1    Manji, H.2    Lubierman, V.3
  • 119
    • 0034612110 scopus 로고    scopus 로고
    • Pharmacogenetic prediction of clozapine response
    • ARRANZ MJ, MUNRO J, BIRKETT J et al.: Pharmacogenetic prediction of clozapine response. Lancet (2000) 355(9215):1615-1616.
    • (2000) Lancet , vol.355 , Issue.9215 , pp. 1615-1616
    • Arranz, M.J.1    Munro, J.2    Birkett, J.3
  • 120
    • 0033918457 scopus 로고    scopus 로고
    • 5-HT2A receptor gene polymorphism is associated with food and alcohol intake in obese people
    • AUBERT R, BETOULLE D, HERBETH B, SIEST G, FUMERON F: 5-HT2A receptor gene polymorphism is associated with food and alcohol intake in obese people. Int. J. Obes. (2000) 24(7):920-924.
    • (2000) Int. J. Obes. , vol.24 , Issue.7 , pp. 920-924
    • Aubert, R.1    Betoulle, D.2    Herbeth, B.3    Siest, G.4    Fumeron, F.5
  • 121
    • 24044529474 scopus 로고    scopus 로고
    • Polymorphism of the 5-HT2A receptor gene and food intakes in children and adolescents: The Stanislas Family Study
    • HERBETH B, AUBRY E, FUMERON F et al.: Polymorphism of the 5-HT2A receptor gene and food intakes in children and adolescents: the Stanislas Family Study. Am. J. Clin. Nutr. (2005) 82(2):467-470.
    • (2005) Am. J. Clin. Nutr. , vol.82 , Issue.2 , pp. 467-470
    • Herbeth, B.1    Aubry, E.2    Fumeron, F.3
  • 122
    • 0031596301 scopus 로고    scopus 로고
    • 5-HT2A and 5-HT2C receptor polymorphisms and psychopathology in late onset Alzheimer's disease
    • HOLMES C, ARRANZ MJ, POWELL JF, COLLIER DA, LOVESTONE S: 5-HT2A and 5-HT2C receptor polymorphisms and psychopathology in late onset Alzheimer's disease. Hum. Mol. Genet. (1998) 7(9):1507-1509.
    • (1998) Hum. Mol. Genet. , vol.7 , Issue.9 , pp. 1507-1509
    • Holmes, C.1    Arranz, M.J.2    Powell, J.F.3    Collier, D.A.4    Lovestone, S.5
  • 123
    • 0034103054 scopus 로고    scopus 로고
    • Identification of polymorphic loci in the promoter region of the serotonin 5-HT2C receptor gene and their association with obesity and Type II diabetes
    • YUAN X, YAMADA K, ISHIYAMA-SHIGEMOTO S, KOYAMA W, NONAKA K. Identification of polymorphic loci in the promoter region of the serotonin 5-HT2C receptor gene and their association with obesity and Type II diabetes. Diabetologia (2000) 43(3):373-376.
    • (2000) Diabetologia , vol.43 , Issue.3 , pp. 373-376
    • Yuan, X.1    Yamada, K.2    Ishiyama-Shigemoto, S.3    Koyama, W.4    Nonaka, K.5
  • 124
    • 0034623951 scopus 로고    scopus 로고
    • An asn to lys polymorphism in the third intracellular loop of the human alpha 2A-adrenergic receptor imparts enhanced agonist-promoted Gi coupling
    • SMALL KM, FORBES SL, BROWN KM, LIGGETT SB: An asn to lys polymorphism in the third intracellular loop of the human alpha 2A-adrenergic receptor imparts enhanced agonist-promoted Gi coupling. J. Biol. Chem. (2000) 275(49):38518-38523.
    • (2000) J. Biol. Chem. , vol.275 , Issue.49 , pp. 38518-38523
    • Small, K.M.1    Forbes, S.L.2    Brown, K.M.3    Liggett, S.B.4
  • 125
    • 0034725616 scopus 로고    scopus 로고
    • A four amino acid deletion polymorphisin in the third intracellular loop of the human alpha 2C-adrenergic receptor confers impaired coupling to multiple effectors
    • SMALL KM, FORBES SL, RAHMAN FF, BRIDGES KM, LIGGETT SB: A four amino acid deletion polymorphisin in the third intracellular loop of the human alpha 2C-adrenergic receptor confers impaired coupling to multiple effectors. J. Biol. Chem. (2000) 275(30);23059-23064.
    • (2000) J. Biol. Chem. , vol.275 , Issue.30 , pp. 23059-23064
    • Small, K.M.1    Forbes, S.L.2    Rahman, F.F.3    Bridges, K.M.4    Liggett, S.B.5
  • 126
    • 0036146859 scopus 로고    scopus 로고
    • Amino acid 49 polymorphisms of the human beta1-adrenergic receptor affect agonist-promoted trafficking
    • RATHZ DA, BROWN KM, KRAMER LA, LIGGETT SB: Amino acid 49 polymorphisms of the human beta1-adrenergic receptor affect agonist-promoted trafficking. J. Cardiovasc. Pharmacol. (2002) 39(2):155-160.
    • (2002) J. Cardiovasc. Pharmacol. , vol.39 , Issue.2 , pp. 155-160
    • Rathz, D.A.1    Brown, K.M.2    Kramer, L.A.3    Liggett, S.B.4
  • 127
    • 0033617342 scopus 로고    scopus 로고
    • A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor
    • MASON DA, MOORE JD, GREEN SA, LIGGETT SB: A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor. J. Biol. Chem. (1999) 274(18):12670-12674.
    • (1999) J. Biol. Chem. , vol.274 , Issue.18 , pp. 12670-12674
    • Mason, D.A.1    Moore, J.D.2    Green, S.A.3    Liggett, S.B.4
  • 128
    • 0031466866 scopus 로고    scopus 로고
    • Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing
    • MARTINEZ FD, GRAVES PE, BALDINI M, SOLOMON S, ERICKSON R: Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J. Clin. Invest. (1997) 100(12):3184-3188.
    • (1997) J. Clin. Invest. , vol.100 , Issue.12 , pp. 3184-3188
    • Martinez, F.D.1    Graves, P.E.2    Baldini, M.3    Solomon, S.4    Erickson, R.5
  • 129
    • 18744402754 scopus 로고    scopus 로고
    • Polymorphic variants of the beta2-adrenergic receptor (ADRB2) gene and ADRB2-related propanolol-induced dyslipidemia in the Colombian population
    • ISAZA C, HENAO J, RAMIREZ E, CUESTA F, CACABELOS R: Polymorphic variants of the beta2-adrenergic receptor (ADRB2) gene and ADRB2-related propanolol-induced dyslipidemia in the Colombian population. Meth. Find. Exp. Clin. Pharmacol. (2005) 27(4):237-244.
    • (2005) Meth. Find. Exp. Clin. Pharmacol. , vol.27 , Issue.4 , pp. 237-244
    • Isaza, C.1    Henao, J.2    Ramirez, E.3    Cuesta, F.4    Cacabelos, R.5
  • 130
    • 0027519404 scopus 로고
    • A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor
    • GREEN SA, COLE G, JACINTO M, INNIS M, LIGGETT SB: A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor. J. Biol. Chem. (1993) 268(31):23116-23121.
    • (1993) J. Biol. Chem. , vol.268 , Issue.31 , pp. 23116-23121
    • Green, S.A.1    Cole, G.2    Jacinto, M.3    Innis, M.4    Liggett, S.B.5
  • 131
    • 0032004989 scopus 로고    scopus 로고
    • A paired sibling analysis of the beta-3 adrenergic receptor and obesity in Mexican Americans
    • MITCHELL BD, BLANGERO J, COMUZZIE AG et al.: A paired sibling analysis of the beta-3 adrenergic receptor and obesity in Mexican Americans. J. Clin. Invest. (1998) 101(3):584-587.
    • (1998) J. Clin. Invest. , vol.101 , Issue.3 , pp. 584-587
    • Mitchell, B.D.1    Blangero, J.2    Comuzzie, A.G.3
  • 132
    • 0142182079 scopus 로고    scopus 로고
    • A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms
    • ALVAREZ-HERNANDEZ D, SANTAMARIA I, RODRIGUEZ-GARCIA M, IGLESIAS P, DELGADO-LILLO R, CANNATA-ANDIA JB: A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms. J. Mol. Endocrinol. (2003) 31(2):255-262.
    • (2003) J. Mol. Endocrinol. , vol.31 , Issue.2 , pp. 255-262
    • Alvarez-Hernandez, D.1    Santamaria, I.2    Rodriguez-Garcia, M.3    Iglesias, P.4    Delgado-Lillo, R.5    Cannata-Andia, J.B.6
  • 133
    • 11844269243 scopus 로고    scopus 로고
    • A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia
    • UCKUN-KITAPCI A, UNDERWOOD LE, ZHANG J, MOATS-STAATS B: A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia. Am. J. Med. Genet. A. (2005) 132(2):125-129,
    • (2005) Am. J. Med. Genet. A. , vol.132 , Issue.2 , pp. 125-129
    • Uckun-Kitapci, A.1    Underwood, L.E.2    Zhang, J.3    Moats-Staats, B.4
  • 134
    • 18244372491 scopus 로고    scopus 로고
    • Genetic, pharmacological and functional analysis of cholecystokinin-1 and cholecystokinin-2 receptor polymorphism in Type 2 diabetes and obese patients
    • MARCHAL-VICTORION S, VIONNET N, ESCRIEUT C et al.: Genetic, pharmacological and functional analysis of cholecystokinin-1 and cholecystokinin-2 receptor polymorphism in Type 2 diabetes and obese patients. Pharmacogenetics (2002) 12(1):23-30.
    • (2002) Pharmacogenetics , vol.12 , Issue.1 , pp. 23-30
    • Marchal-Victorion, S.1    Vionnet, N.2    Escrieut, C.3
  • 135
    • 0030861904 scopus 로고    scopus 로고
    • Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression. Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SFCC), ALIVE Study
    • SMITH MW, DEAN M, CARRINGTON M et al.: Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression. Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SFCC), ALIVE Study. Science (1997) 277(5328):959-965.
    • (1997) Science , vol.277 , Issue.5328 , pp. 959-965
    • Smith, M.W.1    Dean, M.2    Carrington, M.3
  • 136
    • 0034122740 scopus 로고    scopus 로고
    • Effect of chemokine receptor gene polymorphisms on the response to potent antiretroviral therapy
    • O'BRIEN TR, MCDERMOTT DH, IOANNIDIS JP et al.: Effect of chemokine receptor gene polymorphisms on the response to potent antiretroviral therapy. AIDS (2000) 14(7):821-826.
    • (2000) AIDS , vol.14 , Issue.7 , pp. 821-826
    • O'Brien, T.R.1    McDermott, D.H.2    Ioannidis, J.P.3
  • 137
    • 0001676483 scopus 로고    scopus 로고
    • CCR5 promoter alleles and specific DNA binding factors
    • BREAM JH, YOUNG HA, RICE N et al.: CCR5 promoter alleles and specific DNA binding factors. Science (1999) 284(5412):223.
    • (1999) Science , vol.284 , Issue.5412 , pp. 223
    • Bream, J.H.1    Young, H.A.2    Rice, N.3
  • 138
    • 16044373004 scopus 로고    scopus 로고
    • Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene
    • SAMSON M, LIBERT F, DORANZ BJ et al.: Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature (1996) 382(6593):722-725.
    • (1996) Nature , vol.382 , Issue.6593 , pp. 722-725
    • Samson, M.1    Libert, F.2    Doranz, B.J.3
  • 139
    • 8444225971 scopus 로고    scopus 로고
    • Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability
    • HUANG JL, GAO PS, MATHIAS RA et al.: Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability. Hum. Mol. Genet. (2004) 13(21):2691-2697.
    • (2004) Hum. Mol. Genet. , vol.13 , Issue.21 , pp. 2691-2697
    • Huang, J.L.1    Gao, P.S.2    Mathias, R.A.3
  • 140
    • 0029860139 scopus 로고    scopus 로고
    • Functional analysis of the human D2 dopamine receptor missense variants
    • CRAVCHIK A, SIBLEY DR, GEJMAN PV: Functional analysis of the human D2 dopamine receptor missense variants. J. Biol. Chem. (1996) 271(42):26013-26017.
    • (1996) J. Biol. Chem. , vol.271 , Issue.42 , pp. 26013-26017
    • Cravchik, A.1    Sibley, D.R.2    Gejman, P.V.3
  • 141
    • 0032891646 scopus 로고    scopus 로고
    • Analysis of neuroleptic binding affinities and potencies for the different human D2 dopamine receptor missense variants
    • CRAVCHIK A, SIBLEY DR, GEJMAN PV: Analysis of neuroleptic binding affinities and potencies for the different human D2 dopamine receptor missense variants. Pharmacogenetics (1999) 9(1):17-23.
    • (1999) Pharmacogenetics , vol.9 , Issue.1 , pp. 17-23
    • Cravchik, A.1    Sibley, D.R.2    Gejman, P.V.3
  • 142
    • 0032079479 scopus 로고    scopus 로고
    • Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization
    • TANAKA H, MOROI K, IWAI J et al.: Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization. J. Biol. Chem. (1998) 273(18):11378-11383.
    • (1998) J. Biol. Chem. , vol.273 , Issue.18 , pp. 11378-11383
    • Tanaka, H.1    Moroi, K.2    Iwai, J.3
  • 144
    • 0036751501 scopus 로고    scopus 로고
    • Isoforms and single nucleotide polymorphisms of the FSH receptor gene: Implications for human reproduction
    • SIMONI M, NIESCHLAG E, GROMOLL J: Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Hum. Reprod. Update (2002) 8(5):413-421.
    • (2002) Hum. Reprod. Update , vol.8 , Issue.5 , pp. 413-421
    • Simoni, M.1    Nieschlag, E.2    Gromoll, J.3
  • 145
    • 22844441179 scopus 로고    scopus 로고
    • Follicle-stimulating hormone receptor polymorphisms in a population of infertile women
    • FALCONER H, ANDERSSON E, AANESEN A, FRIED G: Follicle-stimulating hormone receptor polymorphisms in a population of infertile women. Acta Obstet. Gynecol. Scand. (2005) 84(8):806-811.
    • (2005) Acta Obstet. Gynecol. Scand. , vol.84 , Issue.8 , pp. 806-811
    • Falconer, H.1    Andersson, E.2    Aanesen, A.3    Fried, G.4
  • 146
    • 0037013211 scopus 로고    scopus 로고
    • Impaired receptor binding and activation associated with a human prostacyclin receptor polymorphism
    • STITHAM J, STOJANOVIC A, HWA J: Impaired receptor binding and activation associated with a human prostacyclin receptor polymorphism. J. Biol. Chem. (2002) 277(18):15439-15444.
    • (2002) J. Biol. Chem. , vol.277 , Issue.18 , pp. 15439-15444
    • Stitham, J.1    Stojanovic, A.2    Hwa, J.3
  • 147
    • 0037338885 scopus 로고    scopus 로고
    • Sequence variation in the promoter region of the cholinergic receptor muscarinic 3 gene and asthma and atopy
    • DONFACK J, KOGUT P, FORSYTHE S, SOLWAYJ, OBER C: Sequence variation in the promoter region of the cholinergic receptor muscarinic 3 gene and asthma and atopy. J. Allergy Clin. Immunol. (2003) 111(3):527-532.
    • (2003) J. Allergy Clin. Immunol. , vol.111 , Issue.3 , pp. 527-532
    • Donfack, J.1    Kogut, P.2    Forsythe, S.3    Solway, J.4    Ober, C.5
  • 148
    • 0035860745 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in the human mu opioid receptor gene alter basal G protein coupling and calmodulin binding
    • WANG D, QUILLAN JM, WINANS K, LUCAS JL, SADEE W: Single nucleotide polymorphisms in the human mu opioid receptor gene alter basal G protein coupling and calmodulin binding. J. Biol. Chem. (2001) 276(37):34624-34630.
    • (2001) J. Biol. Chem. , vol.276 , Issue.37 , pp. 34624-34630
    • Wang, D.1    Quillan, J.M.2    Winans, K.3    Lucas, J.L.4    Sadee, W.5
  • 149
    • 0034671716 scopus 로고    scopus 로고
    • A polymorphic protease-activated receptor 2 (PAR2) displaying reduced sensitivity to trypsin and differential responses to PAR agonists
    • COMPTON SJ, CAIRNS JA, PALMER KJ, AL-ANI B, HOLLENBERG MD, WALLS AF: A polymorphic protease-activated receptor 2 (PAR2) displaying reduced sensitivity to trypsin and differential responses to PAR agonists. J. Biol. Chem. (2000) 275(50):39207-39212.
    • (2000) J. Biol. Chem. , vol.275 , Issue.50 , pp. 39207-39212
    • Compton, S.J.1    Cairns, J.A.2    Palmer, K.J.3    Al-Ani, B.4    Hollenberg, M.D.5    Walls, A.F.6
  • 150
    • 0033145709 scopus 로고    scopus 로고
    • Human P2Y2 receptor polymorphism: Identification and pharmacological characterization of two allelic variants
    • JANSSENS R, PAINDAVOINE P, PARMENTIER M, BOEYNAEMS JM: Human P2Y2 receptor polymorphism: identification and pharmacological characterization of two allelic variants. Br. J. Pharmacol. (1999) 127(3):709-716.
    • (1999) Br. J. Pharmacol. , vol.127 , Issue.3 , pp. 709-716
    • Janssens, R.1    Paindavoine, P.2    Parmentier, M.3    Boeynaems, J.M.4
  • 151
    • 0035843178 scopus 로고    scopus 로고
    • Identification of the platelet ADP receptor targeted by antithrombotic drugs
    • HOLLOPETER G, JANTZEN HM, VINCENT D et al.: Identification of the platelet ADP receptor targeted by antithrombotic drugs. Nature (2001) 409(6817):202-207.
    • (2001) Nature , vol.409 , Issue.6817 , pp. 202-207
    • Hollopeter, G.1    Jantzen, H.M.2    Vincent, D.3
  • 152
    • 0642316318 scopus 로고    scopus 로고
    • Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa
    • 253
    • TENG Y, TIAN H, WANG H et al.: Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa. J. Huazhong Univ. Sci. Technolog. Med. Sci. (2003) 23(3):242-244, 253.
    • (2003) J. Huazhong Univ. Sci. Technolog. Med. Sci. , vol.23 , Issue.3 , pp. 242-244
    • Teng, Y.1    Tian, H.2    Wang, H.3
  • 153
    • 0026209385 scopus 로고
    • Rhodopsin mutations in autosomal dominant retinitis pigmentosa
    • SUNG CH, DAVENPORT CM, HENNESSEY JC et al.: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA (1991) 88(15):6481-6485.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , Issue.15 , pp. 6481-6485
    • Sung, C.H.1    Davenport, C.M.2    Hennessey, J.C.3
  • 154
    • 15044352209 scopus 로고    scopus 로고
    • A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa
    • YONG RY, CHEE CK, YAP EP: A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa. Ann. Acad Med. Singapore (2005) 34(1):94-99.
    • (2005) Ann. Acad. Med. Singapore , vol.34 , Issue.1 , pp. 94-99
    • Yong, R.Y.1    Chee, C.K.2    Yap, E.P.3
  • 155
    • 0028226034 scopus 로고
    • An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system
    • BIRNBAUMER M, GILBERT S, ROSENTHAL W: An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. Mol. Endocrinol. (1994) 8(7):886-894.
    • (1994) Mol. Endocrinol. , vol.8 , Issue.7 , pp. 886-894
    • Birnbaumer, M.1    Gilbert, S.2    Rosenthal, W.3
  • 156
    • 0034900295 scopus 로고    scopus 로고
    • Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration
    • SAUER CG, WHITE K, STOHR H et al.: Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration. Br. J. Ophthalmol. (2001) 85(8):969-975.
    • (2001) Br. J. Ophthalmol. , vol.85 , Issue.8 , pp. 969-975
    • Sauer, C.G.1    White, K.2    Stohr, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.