{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T04:12:21Z","timestamp":1770351141239,"version":"3.49.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2008,1,18]],"date-time":"2008-01-18T00:00:00Z","timestamp":1200614400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2008,3]]},"DOI":"10.1007\/s12031-007-9030-x","type":"journal-article","created":{"date-parts":[[2008,1,17]],"date-time":"2008-01-17T15:58:42Z","timestamp":1200585522000},"page":"211-223","source":"Crossref","is-referenced-by-count":26,"title":["Pharmacological Analysis of Human D1 and D2 Dopamine Receptor Missense Variants"],"prefix":"10.1007","volume":"34","author":[{"given":"Munya A.","family":"Al-Fulaij","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Ren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Beinborn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan S.","family":"Kopin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,1,18]]},"reference":[{"key":"9030_CR1","first-page":"4","volume":"4","author":"M. A. Al-Fulaij","year":"2007","unstructured":"Al-Fulaij, M. A., Ren, Y., Beinborn, M., & Kopin, A. S. (2007). Identification of amino acid determinants of dopamine 2 receptor synthetic agonist function. Journal of Pharmacology and Experimental Therapeutics, 4, 4.","journal-title":"Journal of Pharmacology and Experimental Therapeutics"},{"key":"9030_CR2","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/s002100000299","volume":"363","author":"T. Bach","year":"2001","unstructured":"Bach, T., Syversveen, T., Kvingedal, A. M., Krobert, K. A., Brattelid, T., Kaumann, A. J., et al. (2001). 5HT4(a) and 5-HT4(b) receptors have nearly identical pharmacology and are both expressed in human atrium and ventricle. Naunyn Schmiedebergs Archives of Pharmacology, 363, 146\u2013160.","journal-title":"Naunyn Schmiedebergs Archives of Pharmacology"},{"key":"9030_CR3","doi-asserted-by":"crossref","first-page":"19537","DOI":"10.1074\/jbc.271.32.19537","volume":"271","author":"M. Bai","year":"1996","unstructured":"Bai, M., Quinn, S., Trivedi, S., Kifor, O., Pearce, S. H., Pollak, M. R., et al. (1996). Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. Journal of Biological Chemistry, 271, 19537\u201319545.","journal-title":"Journal of Biological Chemistry"},{"key":"9030_CR4","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/362348a0","volume":"362","author":"M. Beinborn","year":"1993","unstructured":"Beinborn, M., Lee, Y. M., McBride, E. W., Quinn, S. M., & Kopin, A. S. (1993). A single amino acid of the cholecystokinin-B\/gastrin receptor determines specificity for non-peptide antagonists. Nature, 362, 348\u2013350.","journal-title":"Nature"},{"key":"9030_CR5","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1124\/mol.65.3.753","volume":"65","author":"M. Beinborn","year":"2004","unstructured":"Beinborn, M., Ren, Y., Blaker, M., Chen, C., & Kopin, A. S. (2004). Ligand function at constitutively active receptor mutants is affected by two distinct yet interacting mechanisms. Molecular Pharmacology, 65, 753\u2013760.","journal-title":"Molecular Pharmacology"},{"key":"9030_CR6","first-page":"886","volume":"8","author":"M. Birnbaumer","year":"1994","unstructured":"Birnbaumer, M., Gilbert, S., & Rosenthal, W. (1994). 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. Molecular Endocrinology, 8, 886\u2013894.","journal-title":"Molecular Endocrinology"},{"key":"9030_CR7","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.tips.2005.12.007","volume":"27","author":"R. A. Bond","year":"2006","unstructured":"Bond, R. A., & Ijzerman, A. P. (2006). Recent developments in constitutive receptor activity and inverse agonism, and their potential for GPCR drug discovery. Trends in Pharmacological Sciences, 27, 92\u201396.","journal-title":"Trends in Pharmacological Sciences"},{"key":"9030_CR8","doi-asserted-by":"crossref","first-page":"9608","DOI":"10.1073\/pnas.95.16.9608","volume":"95","author":"C. Bond","year":"1998","unstructured":"Bond, C., LaForge, K. S., Tian, M., Melia, D., Zhang, S., Borg, L., et al. (1998). Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction. Proceedings of the National Academy of Sciences of the United States of America, 95, 9608\u20139613.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"9030_CR9","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1124\/mol.56.5.989","volume":"56","author":"G. Cai","year":"1999","unstructured":"Cai, G., Gurdal, H., Smith, C., Wang, H. Y., & Friedman, E. (1999). Inverse agonist properties of dopaminergic antagonists at the D(1A) dopamine receptor: uncoupling of the D(1A) dopamine receptor from G(s) protein. Molecular Pharmacology, 56, 989\u2013996.","journal-title":"Molecular Pharmacology"},{"key":"9030_CR10","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1074\/jbc.C200588200","volume":"278","author":"S. Claeysen","year":"2003","unstructured":"Claeysen, S., Joubert, L., Sebben, M., Bockaert, J., & Dumuis, A. (2003). A single mutation in the 5-HT4 receptor (5-HT4-R D100(3.32)A) generates a Gs-coupled receptor activated exclusively by synthetic ligands (RASSL). Journal of Biological Chemistry, 278, 699\u2013702.","journal-title":"Journal of Biological Chemistry"},{"key":"9030_CR11","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/363274a0","volume":"363","author":"B. R. Conklin","year":"1993","unstructured":"Conklin, B. R., Farfel, Z., Lustig, K. D., Julius, D., & Bourne, H. R. (1993). Substitution of three amino acids switches receptor specificity of Gq alpha to that of Gi alpha. Nature, 363, 274\u2013276.","journal-title":"Nature"},{"key":"9030_CR12","doi-asserted-by":"crossref","first-page":"26013","DOI":"10.1074\/jbc.271.42.26013","volume":"271","author":"A. Cravchik","year":"1996","unstructured":"Cravchik, A., Sibley, D. R., & Gejman, P. V. (1996). Functional analysis of the human D2 dopamine receptor missense variants. Journal of Biological Chemistry, 271, 26013\u201326017.","journal-title":"Journal of Biological Chemistry"},{"key":"9030_CR13","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1111\/j.1472-8206.2000.tb00395.x","volume":"14","author":"L. Daeffler","year":"2000","unstructured":"Daeffler, L., & Landry, Y. (2000). Inverse agonism at heptahelical receptors: concept, experimental approach and therapeutic potential. Fundamental and Clinical Pharmacology, 14, 73\u201387.","journal-title":"Fundamental and Clinical Pharmacology"},{"key":"9030_CR14","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0163-7258(99)00029-7","volume":"84","author":"G. Emilien","year":"1999","unstructured":"Emilien, G., Maloteaux, J. M., Geurts, M., Hoogenberg, K., & Cragg, S. (1999). Dopamine receptors\u2013physiological understanding to therapeutic intervention potential. Pharmacology and Therapeutics, 84, 133\u2013156.","journal-title":"Pharmacology and Therapeutics"},{"key":"9030_CR15","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1016\/S0028-3908(00)00063-0","volume":"39","author":"D. Feuerbach","year":"2000","unstructured":"Feuerbach, D., Fehlmann, D., Nunn, C., Siehler, S., Langenegger, D., Bouhelal, R., et al. (2000). Cloning, expression and pharmacological characterisation of the mouse somatostatin sst(5) receptor. Neuropharmacology, 39, 1451\u20131462.","journal-title":"Neuropharmacology"},{"key":"9030_CR16","doi-asserted-by":"crossref","first-page":"9762","DOI":"10.1073\/pnas.86.24.9762","volume":"86","author":"D. K. Grandy","year":"1989","unstructured":"Grandy, D. K., Marchionni, M. A., Makam, H., Stofko, R. E., Alfano, M., Frothingham, L., et al. (1989). Cloning of the cDNA and gene for a human D2 dopamine receptor. Proceedings of the National Academy of Sciences of the United States of America, 86, 9762\u20139766.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"9030_CR17","doi-asserted-by":"crossref","first-page":"14604","DOI":"10.1074\/jbc.M511610200","volume":"281","author":"S. R. Hawtin","year":"2006","unstructured":"Hawtin, S. R. (2006). Pharmacological chaperone activity of SR49059 to functionally recover misfolded mutations of the vasopressin V1a receptor. Journal of Biological Chemistry, 281, 14604\u201314614.","journal-title":"Journal of Biological Chemistry"},{"key":"9030_CR18","doi-asserted-by":"crossref","first-page":"14554","DOI":"10.1073\/pnas.202498299","volume":"99","author":"M. G. Hearn","year":"2002","unstructured":"Hearn, M. G., Ren, Y., McBride, E. W., Reveillaud, I., Beinborn, M., & Kopin, A. S. (2002). A Drosophila dopamine 2-like receptor: Molecular characterization and identification of multiple alternatively spliced variants. Proceedings of the National Academy of Sciences of the United States of America, 99, 14554\u201314559.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"9030_CR19","doi-asserted-by":"crossref","first-page":"21558","DOI":"10.1074\/jbc.M603682200","volume":"281","author":"J. Hu","year":"2006","unstructured":"Hu, J., Jiang, J., Costanzi, S., Thomas, C., Yang, W., Feyen, J. H., et al. (2006). A missense mutation in the seven-transmembrane domain of the human Ca2+receptor converts a negative allosteric modulator into a positive allosteric modulator. Journal of Biological Chemistry, 281, 21558\u201321565.","journal-title":"Journal of Biological Chemistry"},{"key":"9030_CR20","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/0014-2999(83)90381-3","volume":"91","author":"J. Hyttel","year":"1983","unstructured":"Hyttel, J. (1983). SCH 23390 - the first selective dopamine D-1 antagonist. European Journal of Pharmacology, 91, 153\u2013154.","journal-title":"European Journal of Pharmacology"},{"key":"9030_CR21","first-page":"5","volume":"5","author":"P. A. Insel","year":"2006","unstructured":"Insel, P. A., Tang, C. M., Hahntow, I., & Michel, M. C. (2006). Impact of GPCRs in clinical medicine: Monogenic diseases, genetic variants and drug targets. Biochimica et Biophysica Acta, 5, 5.","journal-title":"Biochimica et Biophysica Acta"},{"key":"9030_CR22","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1006\/bbrc.1993.2404","volume":"196","author":"M. Itokawa","year":"1993","unstructured":"Itokawa, M., Arinami, T., Futamura, N., Hamaguchi, H., & Toru, M. (1993). A structural polymorphism of human dopamine D2 receptor, D2(Ser311\u2013>Cys). Biochemical and Biophysical Research Communications, 196, 1369\u20131375.","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"9030_CR23","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/0922-4106(93)90007-V","volume":"246","author":"S. Izenwasser","year":"1993","unstructured":"Izenwasser, S., & Katz, J. L. (1993). Differential efficacies of dopamine D1 receptor agonists for stimulating adenylyl cyclase in squirrel monkey and rat. European Journal of Pharmacology, 246, 39\u201344.","journal-title":"European Journal of Pharmacology"},{"key":"9030_CR24","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1096\/fj.00-0438rev","volume":"15","author":"T. Kenakin","year":"2001","unstructured":"Kenakin, T. (2001). Inverse, protean, and ligand-selective agonism: matters of receptor conformation. FASEB Journal, 15, 598\u2013611.","journal-title":"FASEB Journal"},{"key":"9030_CR25","doi-asserted-by":"crossref","first-page":"5525","DOI":"10.1073\/pnas.0831223100","volume":"100","author":"A. S. Kopin","year":"2003","unstructured":"Kopin, A. S., McBride, E. W., Chen, C., Freidinger, R. M., Chen, D., Zhao, C. M., et al. (2003). Identification of a series of CCK-2 receptor nonpeptide agonists: sensitivity to stereochemistry and a receptor point mutation. Proceedings of the National Academy of Sciences of the United States of America, 100, 5525\u20135530.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"Suppl 1","key":"9030_CR26","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1080\/17431380410032544","volume":"36","author":"K. Leineweber","year":"2004","unstructured":"Leineweber, K. (2004). Beta-adrenergic receptor polymorphism in human cardiovascular disease. Annals of Medicine, 36(Suppl 1), 64\u201369.","journal-title":"Annals of Medicine"},{"key":"9030_CR27","first-page":"131","volume":"47","author":"C. W. Lin","year":"1995","unstructured":"Lin, C. W., Miller, T. R., Witte, D. G., Bianchi, B. R., Stashko, M., Manelli, A. M., et al. (1995). Characterization of cloned human dopamine D1 receptor-mediated calcium release in 293 cells. Molecular Pharmacology, 47, 131\u2013139.","journal-title":"Molecular Pharmacology"},{"key":"9030_CR28","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1038\/sj.bjp.0703400","volume":"130","author":"C. Maack","year":"2000","unstructured":"Maack, C., Cremers, B., Flesch, M., Hoper, A., Sudkamp, M., & Bohm, M. (2000). Different intrinsic activities of bucindolol, carvedilol and metoprolol in human failing myocardium. British Journal of Pharmacology, 130, 1131\u20131139.","journal-title":"British Journal of Pharmacology"},{"key":"9030_CR29","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/S0165-6147(97)01139-5","volume":"18","author":"G. Milligan","year":"1997","unstructured":"Milligan, G., & Bond, R. A. (1997). Inverse agonism and the regulation of receptor number. Trends in Pharmacological Sciences, 18, 468\u2013474.","journal-title":"Trends in Pharmacological Sciences"},{"key":"9030_CR30","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1152\/physrev.1998.78.1.189","volume":"78","author":"C. Missale","year":"1998","unstructured":"Missale, C., Nash, S. R., Robinson, S. W., Jaber, M., & Caron, M. G. (1998). Dopamine receptors: From structure to function. Physiological Reviews, 78, 189\u2013225.","journal-title":"Physiological Reviews"},{"key":"9030_CR31","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1007\/s001090050224","volume":"76","author":"A. Oksche","year":"1998","unstructured":"Oksche, A., & Rosenthal, W. (1998). The molecular basis of nephrogenic diabetes insipidus. Journal of Molecular Medicine, 76, 326\u2013337.","journal-title":"Journal of Molecular Medicine"},{"key":"9030_CR32","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1530\/eje.1.02279","volume":"155","author":"R. P. Peeters","year":"2006","unstructured":"Peeters, R. P., van der Deure, W. M., & Visser, T. J. (2006). Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases. European Journal of Endocrinology, 155, 655\u2013662.","journal-title":"European Journal of Endocrinology"},{"key":"9030_CR33","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/ajmg.1320600311","volume":"60","author":"A. Ram","year":"1995","unstructured":"Ram, A., Cao, Q., Keck, P. E., Jr., Pope, H. G., Jr., Otani, K., Addonizio, G., et al. (1995). Structural change in dopamine D2 receptor gene in a patient with neuroleptic malignant syndrome. American Journal Medical Genetics, 60, 228\u2013230.","journal-title":"American Journal Medical Genetics"},{"key":"9030_CR34","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1016\/0024-3205(85)90443-6","volume":"36","author":"D. W. Schulz","year":"1985","unstructured":"Schulz, D. W., Staples, L., & Mailman, R. B. (1985). SCH23390 causes persistent antidopaminergic effects in vivo: evidence for longterm occupation of receptors. Life Sciences, 36, 1941\u20131948.","journal-title":"Life Sciences"},{"key":"9030_CR35","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s00210-002-0588-0","volume":"366","author":"R. Seifert","year":"2002","unstructured":"Seifert, R., & Wenzel-Seifert, K. (2002). Constitutive activity of G-protein-coupled receptors: cause of disease and common property of wild type receptors. Naunyn Schmiedebergs Archives of Pharmacology, 366, 381\u2013416.","journal-title":"Naunyn Schmiedebergs Archives of Pharmacology"},{"key":"9030_CR36","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1210\/en.2002-220931","volume":"144","author":"H. Shinyama","year":"2003","unstructured":"Shinyama, H., Masuzaki, H., Fang, H., & Flier, J. S. (2003). Regulation of melanocortin-4 receptor signaling: agonist-mediated desensitization and internalization. Endocrinology, 144, 1301\u20131314.","journal-title":"Endocrinology"},{"key":"9030_CR37","doi-asserted-by":"crossref","first-page":"11378","DOI":"10.1074\/jbc.273.18.11378","volume":"273","author":"H. Tanaka","year":"1998","unstructured":"Tanaka, H., Moroi, K., Iwai, J., Takahashi, H., Ohnuma, N., Hori, S., et al. (1998). Novel mutations of the endothelin B receptor gene in patients with Hirschsprung\u2019s disease and their characterization. Journal of Biological Chemistry, 273, 11378\u201311383.","journal-title":"Journal of Biological Chemistry"},{"key":"9030_CR38","doi-asserted-by":"crossref","first-page":"27925","DOI":"10.1016\/S0021-9258(18)46876-7","volume":"269","author":"M. Tiberi","year":"1994","unstructured":"Tiberi, M., & Caron, M. G. (1994). High agonist-independent activity is a distinguishing feature of the dopamine D1B receptor subtype. Journal of Biological Chemistry, 269, 27925\u201327931.","journal-title":"Journal of Biological Chemistry"},{"key":"9030_CR39","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1172\/JCI9238","volume":"106","author":"C. Vaisse","year":"2000","unstructured":"Vaisse, C., Clement, K., Durand, E., Hercberg, S., Guy-Grand, B., & Froguel, P. (2000). Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. Journal of Clinical Investigation, 106, 253\u2013262.","journal-title":"Journal of Clinical Investigation"},{"key":"9030_CR40","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0149-7634(99)00063-9","volume":"24","author":"D. Vallone","year":"2000","unstructured":"Vallone, D., Picetti, R., & Borrelli, E. (2000). Structure and function of dopamine receptors. Neuroscience and Biobehavioral Reviews, 24, 125\u2013132.","journal-title":"Neuroscience and Biobehavioral Reviews"},{"key":"9030_CR41","first-page":"95","volume":"13","author":"R. I. Weiner","year":"1992","unstructured":"Weiner, R. I., Wetsel, W., Goldsmith, P., Martinez de la Escalera, G., Windle, J., Padula, C., et al. (1992). Gonadotropin-releasing hormone neuronal cell lines. Frontiers in Neuroendocrinology, 13, 95\u2013119.","journal-title":"Frontiers in Neuroendocrinology"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-007-9030-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12031-007-9030-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-007-9030-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T23:50:21Z","timestamp":1630540221000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12031-007-9030-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,18]]},"references-count":41,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["9030"],"URL":"https:\/\/doi.org\/10.1007\/s12031-007-9030-x","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,18]]}}}