Mutations in GPR101 as a potential cause of X-linked acrogigantism and acromegaly
Tài liệu tham khảo
Veldhuis, 2012, Lifetime regulation of growth hormone (GH) secretion, 237
Trivellin, 2018, An orphan G protein-coupled receptor causes human gigantism and/or acromegaly: molecular biology and clinical correlations, Best Pract Res Clin Endocrinol Metab, 32, 125, 10.1016/j.beem.2018.02.004
Iacovazzo, 2016, Gigantism: X-linked acrogigantism and GPR101 mutations, Growth Horm IGF Res, 30, 64, 10.1016/j.ghir.2016.09.007
Trivellin, 2014, Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation, N Engl J Med, 371, 2363, 10.1056/NEJMoa1408028
Beckers, 2015, X-linked acrogigantism syndrome: clinical profile and therapeutic responses, Endocr Relat Cancer, 22, 353, 10.1530/ERC-15-0038
Iacovazzo, 2016, Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study, Acta Neuropathol Commun, 4, 56, 10.1186/s40478-016-0328-1
Kakarala, 2014, Sequence-structure based phylogeny of GPCR class A rhodopsin receptors, Mol Phylogenet Evol, 74, 66, 10.1016/j.ympev.2014.01.022
Lee, 2001, Discovery and mapping of ten novel G protein-coupled receptor genes, Gene, 275, 83, 10.1016/S0378-1119(01)00651-5
Trivellin, 2016, Characterization of GPR101 transcript structure and expression patterns, J Mol Endocrinol, 57, 97, 10.1530/JME-16-0045
Bates, 2006, Characterization of Gpr101 expression and G-protein coupling selectivity, Brain Res, 1087, 1, 10.1016/j.brainres.2006.02.123
Nilaweera, 2007, G protein-coupled receptor 101 mRNA expression in the mouse brain: altered expression in the posterior hypothalamus and amygdala by energetic challenges, J Neuroendocrinol, 19, 34, 10.1111/j.1365-2826.2006.01502.x
Tao, 2010, The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology, Endocr Rev, 31, 506, 10.1210/er.2009-0037
Tao, 2010, Mutations in the melanocortin-3 receptor (MC3R) gene: impact on human obesity or adiposity, Curr Opin Investig Drugs, 11, 1092
Bagnol D. Methods of using GPR101 receptors to identify modulators of hypothalamic proopiomelanocortin (POMC)-derived biologically active peptide secretion. Google Patents; 2012. WO2007/142979.
Kalra, 1999, Interacting appetite-regulating pathways in the hypothalamic regulation of body weight, Endocr Rev, 20, 68
Cheung, 1997, Proopiomelanocortin neurons are direct targets for leptin in the hypothalamus, Endocrinology, 138, 4489, 10.1210/endo.138.10.5570
Mercer, 1996, Coexpression of leptin receptor and preproneuropeptide Y mRNA in arcuate nucleus of mouse hypothalamus, J Neuroendocrinol, 8, 733, 10.1046/j.1365-2826.1996.05161.x
Powers, 1972, Sexual receptivity: facilitation by medial preoptic lesions in female rats, Science, 175, 1003, 10.1126/science.175.4025.1003
Maeda, 2007, Metastin/kisspeptin and control of estrous cycle in rats, Rev Endocr Metab Disord, 8, 21, 10.1007/s11154-007-9032-6
Goodman, 2013, Kisspeptin, neurokinin B, and dynorphin act in the arcuate nucleus to control activity of the GnRH pulse generator in ewes, Endocrinology, 154, 4259, 10.1210/en.2013-1331
Bauman, 2017, Regulation of GnRH-(1-5) signaling genes by estradiol is age-dependent, Front Endocrinol (Lausanne), 8, 282, 10.3389/fendo.2017.00282
Cho-Clark, 2014, GnRH-(1-5) transactivates EGFR in Ishikawa human endometrial cells via an orphan G protein-coupled receptor, Mol Endocrinol, 28, 80, 10.1210/me.2013-1203
Cho-Clark, 2015, GnRH-(1-5) activates matrix metallopeptidase-9 to release epidermal growth factor and promote cellular invasion, Mol Cell Endocrinol, 415, 114, 10.1016/j.mce.2015.08.010
Larco, 2013, The novel actions of the metabolite GnRH-(1-5) are mediated by a G protein-coupled receptor, Front Endocrinol (Lausanne), 4, 83, 10.3389/fendo.2013.00083
Wu, 2005, Stimulation of luteinizing hormone-releasing hormone (LHRH) gene expression in GT1-7 cells by its metabolite, LHRH-(1-5), Endocrinology, 146, 280, 10.1210/en.2004-0560
Treen, 2016, Phoenixin activates immortalized GnRH and kisspeptin neurons through the novel receptor GPR173, Mol Endocrinol, 30, 872, 10.1210/me.2016-1039
Woitowich, 2015, EP24.15 as a potential regulator of kisspeptin within the neuroendocrine hypothalamus, Endocrinology, 157, 820, 10.1210/en.2015-1580
George, 2013, Unravelling the molecular complexity of GPCR-mediated EGFR transactivation using functional genomics approaches, FEBS J, 280, 5258, 10.1111/febs.12509
Baldwin, 2007, Regulation of type II luteinizing hormone-releasing hormone (LHRH-II) gene expression by the processed peptide of LHRH-I, LHRH-(1-5) in endometrial cells, Exp Biol Med (Maywood), 232, 146
Poon, 2009, Epidermal growth factor-induced GnRH-II synthesis contributes to ovarian cancer cell invasion, Mol Endocrinol, 23, 1646, 10.1210/me.2009-0147
Poon, 2011, Gonadotropin-releasing hormone-II increases membrane type I metalloproteinase production via β-catenin signaling in ovarian cancer cells, Endocrinology, 152, 764, 10.1210/en.2010-0942
Poon, 2011, 37-kDa laminin receptor precursor mediates GnRH-II-induced MMP-2 expression and invasiveness in ovarian cancer cells, Mol Endocrinol, 25, 327, 10.1210/me.2010-0334
Wu, 2013, Gonadotropin-releasing hormone type II (GnRH-II) agonist regulates the invasiveness of endometrial cancer cells through the GnRH-I receptor and mitogen-activated protein kinase (MAPK)-dependent activation of matrix metalloproteinase (MMP)-2, BMC Cancer, 13, 300, 10.1186/1471-2407-13-300
Jones, 1986, DNA methylation and cancer, Cancer Res, 46, 461
Kober, 2011, Methyl-CpG binding column-based identification of nine genes hypermethylated in colorectal cancer, Mol Carcinog, 50, 846, 10.1002/mc.20763
Vassilatis, 2003, The G protein-coupled receptor repertoires of human and mouse, Proc Natl Acad Sci USA, 100, 4903, 10.1073/pnas.0230374100
Larco, 2013, The metabolite GnRH-(1-5) inhibits the migration of immortalized GnRH neurons, Endocrinology, 154, 783, 10.1210/en.2012-1746
Sreekumar, 2004, Predicting GPCR-G-protein coupling using hidden Markov models, Bioinformatics, 20, 3490, 10.1093/bioinformatics/bth434
Wong, 2003, G protein selectivity is regulated by multiple intracellular regions of GPCRs, Neurosignals, 12, 1, 10.1159/000068914
Erlenbach, 2001, Single amino acid substitutions and deletions that alter the G protein coupling properties of the V2 vasopressin receptor identified in yeast by receptor random mutagenesis, J Biol Chem, 276, 29382, 10.1074/jbc.M103203200
Martin, 2015, Constitutive activity among orphan class-A G protein coupled receptors, PLoS One, 10, 10.1371/journal.pone.0138463
Michal, 2001, Dual effects of muscarinic M2 acetylcholine receptors on the synthesis of cyclic AMP in CHO cells: dependence on time, receptor density and receptor agonists, Br J Pharmacol, 132, 1217, 10.1038/sj.bjp.0703931
Tao, 2014, Chaperoning G protein-coupled receptors: from cell biology to therapeutics, Endocr Rev, 35, 602, 10.1210/er.2013-1121
Luttrell, 2002, The role of β-arrestins in the termination and transduction of G protein-coupled receptor signals, J Cell Sci, 115, 455, 10.1242/jcs.115.3.455
New, 2007, Molecular mechanisms mediating the G protein-coupled receptor regulation of cell cycle progression, J Mol Signal, 2, 2, 10.1186/1750-2187-2-2
Rostomyan, 2015, Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients, Endocr Relat Cancer, 22, 745, 10.1530/ERC-15-0320
Rodd, 2016, Somatic GPR101 duplication causing X-linked acrogigantism (XLAG)—diagnosis and management, J Clin Endocrinol Metab, 101, 1927, 10.1210/jc.2015-4366
Moran, 1990, Gigantism due to pituitary mammosomatotroph hyperplasia, N Engl J Med, 323, 322, 10.1056/NEJM199008023230507
Daly, 2016, Growth hormone releasing hormone excess and blockade in X-LAG syndrome, Endocr Relat Cancer, 23, 161, 10.1530/ERC-15-0478
Ferrau, 2016, Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study, Endocrine, 54, 762, 10.1007/s12020-016-0862-4
Matsumoto, 2016, Genetic and clinical characteristics of Japanese patients with sporadic somatotropinoma, Endocr J, 63, 953, 10.1507/endocrj.EJ16-0075
Lecoq, 2016, Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas, Eur J Endocrinol, 174, 523, 10.1530/EJE-15-1044
Trivellin, 2016, Screening for GPR101 defects in pediatric pituitary corticotropinomas, Endocr Relat Cancer, 23, 357, 10.1530/ERC-16-0091
Castinetti, 2016, GPR101 mutations are not a frequent cause of congenital isolated growth hormone deficiency, Horm Metab Res, 48, 389, 10.1055/s-0042-100733
