Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.

[1]  A. IJzerman,et al.  G protein‐coupled receptors of the hypothalamic–pituitary–gonadal axis: A case for gnrh, LH, FSH, and GPR54 receptor ligands , 2008, Medicinal research reviews.

[2]  Patrick Scheerer,et al.  Crystal structure of the ligand-free G-protein-coupled receptor opsin , 2008, Nature.

[3]  G. Guerra‐Júnior,et al.  Long‐term treatment of familial male‐limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole , 2008, Clinical endocrinology.

[4]  Gebhard F. X. Schertler,et al.  Structure of a β1-adrenergic G-protein-coupled receptor , 2008, Nature.

[5]  Zhen‐Chuan Fan,et al.  Pharmacological analyses of two naturally occurring porcine melanocortin-4 receptor mutations in domestic pigs. , 2008, Domestic animal endocrinology.

[6]  K. Dezaki,et al.  Ghrelin is a physiological regulator of insulin release in pancreatic islets and glucose homeostasis. , 2008, Pharmacology & therapeutics.

[7]  Francesca Fanelli,et al.  An intracellular loop (IL2) residue confers different basal constitutive activities to the human lutropin receptor and human thyrotropin receptor through structural communication between IL2 and helix 6, via helix 3. , 2008, Endocrinology.

[8]  T. Horvath,et al.  Simultaneous deletion of ghrelin and its receptor increases motor activity and energy expenditure. , 2008, American journal of physiology. Gastrointestinal and liver physiology.

[9]  C. H. Cheng,et al.  A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism , 2008, Journal of Human Genetics.

[10]  V. Locatelli,et al.  New trisubstituted 1,2,4-triazole derivatives as potent ghrelin receptor antagonists. 3. Synthesis and pharmacological in vitro and in vivo evaluations. , 2008, Journal of medicinal chemistry.

[11]  L. Pardo,et al.  Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome , 2008, Human mutation.

[12]  A. Moulin,et al.  Trisubstituted 1,2,4-triazoles as ligands for the ghrelin receptor: on the significance of the orientation and substitution at position 3. , 2008, Bioorganic & medicinal chemistry letters.

[13]  S. Ellard,et al.  A family with a novel TSH receptor activating germline mutation (p.Ala485Val) , 2008, European Journal of Pediatrics.

[14]  R. Stevens,et al.  High-Resolution Crystal Structure of an Engineered Human β2-Adrenergic G Protein–Coupled Receptor , 2007, Science.

[15]  R. Stevens,et al.  GPCR Engineering Yields High-Resolution Structural Insights into β2-Adrenergic Receptor Function , 2007, Science.

[16]  T. Takano,et al.  A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism. , 2007, Endocrine journal.

[17]  M. Burghammer,et al.  Crystal structure of the human β2 adrenergic G-protein-coupled receptor , 2007, Nature.

[18]  J. Livingston,et al.  Small-molecule ghrelin receptor antagonists improve glucose tolerance, suppress appetite, and promote weight loss. , 2007, Endocrinology.

[19]  D. Fairlie,et al.  Nonpeptidic Ligands for Peptide-Activated G Protein-Coupled Receptors , 2007 .

[20]  V. Locatelli,et al.  Toward potent ghrelin receptor ligands based on trisubstituted 1,2,4-triazole structure. 2. Synthesis and pharmacological in vitro and in vivo evaluations. , 2007, Journal of medicinal chemistry.

[21]  S. Hoare,et al.  Discovery of 1-[2-[(1S)-(3-dimethylaminopropionyl)amino-2-methylpropyl]-4-methylphenyl]-4-[(2R)-methyl-3-(4-chlorophenyl)-propionyl]piperazine as an orally active antagonist of the melanocortin-4 receptor for the potential treatment of cachexia. , 2007, Journal of medicinal chemistry.

[22]  Y. Tao Functional characterization of novel melanocortin-3 receptor mutations identified from obese subjects. , 2007, Biochimica et biophysica acta.

[23]  H. Schiöth,et al.  The G protein-coupled receptor subset of the rat genome , 2007, BMC Genomics.

[24]  Astrid A. Ortiz,et al.  Quinazolinone derivatives as orally available ghrelin receptor antagonists for the treatment of diabetes and obesity. , 2007, Journal of medicinal chemistry.

[25]  J. Fortin,et al.  Four Missense Mutations in the Ghrelin Receptor Result in Distinct Pharmacological Abnormalities , 2007, Journal of Pharmacology and Experimental Therapeutics.

[26]  F. Fanelli,et al.  Intrinsic Differences in the Response of the Human Lutropin Receptor Versus the Human Follitropin Receptor to Activating Mutations* , 2007, Journal of Biological Chemistry.

[27]  A. Spiegel,et al.  Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators , 2007, Journal of cellular and molecular medicine.

[28]  F. Horber,et al.  Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. , 2007, Human molecular genetics.

[29]  D. Fairlie,et al.  Nonpeptidic ligands for peptide-activated G protein-coupled receptors. , 2007, Chemical reviews.

[30]  S. Refetoff,et al.  A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis. , 2007, The Journal of clinical endocrinology and metabolism.

[31]  C. Chen,et al.  Melanocortin-4 receptor antagonists as potential therapeutics in the treatment of cachexia. , 2007, Current topics in medicinal chemistry.

[32]  V. Locatelli,et al.  Synthesis and pharmacological in vitro and in vivo evaluations of novel triazole derivatives as ligands of the ghrelin receptor. 1. , 2007, Journal of medicinal chemistry.

[33]  S. O’Rahilly,et al.  The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals , 2007, International Journal of Obesity.

[34]  A. Latronico,et al.  Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor , 2007, Molecular and Cellular Endocrinology.

[35]  G. Hagen,et al.  Constitutively-active human LH receptors are self-associated and located in rafts , 2007, Molecular and Cellular Endocrinology.

[36]  M. Ascoli Potential Leydig cell mitogenic signals generated by the wild-type and constitutively active mutants of the lutropin/choriogonadotropin receptor (LHR) , 2007, Molecular and Cellular Endocrinology.

[37]  S. Costagliola,et al.  Understanding ovarian hyperstimulation syndrome , 2005, Endocrine.

[38]  小野 法明 Constitutively active parathyroid hormone receptor signaling in cells in osteoblastic lineage suppresses mechanical unloading-induced bone resorption , 2007 .

[39]  A. Miyauchi,et al.  Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient. , 2006, Endocrine journal.

[40]  C. Galet,et al.  A constitutively active mutant of the human lutropin receptor (hLHR-L457R) escapes lysosomal targeting and degradation. , 2006, Molecular endocrinology.

[41]  Y. Tao Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications. , 2006, Pharmacology & therapeutics.

[42]  B. Cheung,et al.  Identification and functional characterization of three novel human melanocortin‐4 receptor gene variants in an obese Chinese population , 2006, Clinical endocrinology.

[43]  W. Chan,et al.  Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. , 2006, The Journal of pediatrics.

[44]  D. Marks,et al.  Therapy insight: use of melanocortin antagonists in the treatment of cachexia in chronic disease , 2006, Nature Clinical Practice Endocrinology &Metabolism.

[45]  E. Bush,et al.  Discovery and pharmacological evaluation of growth hormone secretagogue receptor antagonists. , 2006, Journal of medicinal chemistry.

[46]  D. Marks,et al.  Cachexia: lessons from melanocortin antagonism , 2006, Trends in Endocrinology & Metabolism.

[47]  Zhimin Xiang,et al.  Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist. , 2006, Biochemistry.

[48]  David Handelsman,et al.  Maintenance of Spermatogenesis by the Activated Human (Asp567Gly) FSH Receptor During Testicular Regression Due to Hormonal Withdrawal1 , 2006, Biology of reproduction.

[49]  K. Hofbauer,et al.  Peripheral Administration of a Melanocortin 4-Receptor Inverse Agonist Prevents Loss of Lean Body Mass in Tumor-Bearing Mice , 2006, Journal of Pharmacology and Experimental Therapeutics.

[50]  T. Meitinger,et al.  Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany. , 2006, The Journal of clinical endocrinology and metabolism.

[51]  R. Adan Constitutive receptor activity series: endogenous inverse agonists and constitutive receptor activity in the melanocortin system. , 2006, Trends in pharmacological sciences.

[52]  H. Sham,et al.  Optimization of 2,4-diaminopyrimidines as GHS-R antagonists: side chain exploration. , 2006, Bioorganic & medicinal chemistry letters.

[53]  J. van Durme,et al.  Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I). , 2006, Molecular endocrinology.

[54]  E. Bush,et al.  2,4-diaminopyrimidine derivatives as potent growth hormone secretagogue receptor antagonists. , 2006, Journal of medicinal chemistry.

[55]  J. Pantel,et al.  Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. , 2006, The Journal of clinical investigation.

[56]  J. van Durme,et al.  Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. , 2006, The Journal of clinical endocrinology and metabolism.

[57]  T. Kenakin The physiological significance of constitutive receptor activity , 2005 .

[58]  T. Costa,et al.  Historical review: Negative efficacy and the constitutive activity of G-protein-coupled receptors. , 2005, Trends in pharmacological sciences.

[59]  B. Lowell,et al.  Mice lacking ghrelin receptors resist the development of diet-induced obesity. , 2005, The Journal of clinical investigation.

[60]  R. Neubig,et al.  International Union of Pharmacology. LVI. Ghrelin Receptor Nomenclature, Distribution, and Function , 2005, Pharmacological Reviews.

[61]  M. Sleeman,et al.  Absence of ghrelin protects against early-onset obesity. , 2005, The Journal of clinical investigation.

[62]  D. Segaloff,et al.  Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects. , 2005, The Journal of clinical endocrinology and metabolism.

[63]  A. Radford,et al.  Somatic mutations of the thyroid-stimulating hormone receptor gene in feline hyperthyroidism: parallels with human hyperthyroidism. , 2005, The Journal of endocrinology.

[64]  Rauf Latif,et al.  Thyrotropin receptor-associated diseases: from adenomata to Graves disease. , 2005, The Journal of clinical investigation.

[65]  Stuart Maudsley,et al.  The Origins of Diversity and Specificity in G Protein-Coupled Receptor Signaling , 2005, Journal of Pharmacology and Experimental Therapeutics.

[66]  F. Fanelli,et al.  The Formation of a Salt Bridge Between Helices 3 and 6 Is Responsible for the Constitutive Activity and Lack of Hormone Responsiveness of the Naturally Occurring L457R Mutation of the Human Lutropin Receptor* , 2005, Journal of Biological Chemistry.

[67]  Y. Tao Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity , 2005, Molecular and Cellular Endocrinology.

[68]  H. Sham,et al.  Synthesis and Structure—Activity Relationships of Isoxazole Carboxamides as Growth Hormone Secretagogue Receptor Antagonists. , 2005 .

[69]  Brock T Brown,et al.  The regulation of feeding and metabolic rate and the prevention of murine cancer cachexia with a small-molecule melanocortin-4 receptor antagonist. , 2005, Endocrinology.

[70]  R. Cone,et al.  Role of leptin and melanocortin signaling in uremia-associated cachexia. , 2005, The Journal of clinical investigation.

[71]  S. Swillens,et al.  Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity , 2005, The EMBO journal.

[72]  Jyoti R. Patel,et al.  Structure-activity relationship studies on tetralin carboxamide growth hormone secretagogue receptor antagonists. , 2005, Bioorganic & medicinal chemistry letters.

[73]  M. Olivier,et al.  Genetic linkage and association of the growth hormone secretagogue receptor (ghrelin receptor) gene in human obesity. , 2005, Diabetes.

[74]  H. Sham,et al.  Discovery of tetralin carboxamide growth hormone secretagogue receptor antagonists via scaffold manipulation. , 2004, Journal of medicinal chemistry.

[75]  L. Calvi,et al.  The interplay of osteogenesis and hematopoiesis , 2004, The Journal of cell biology.

[76]  T. Schwartz,et al.  Common Structural Basis for Constitutive Activity of the Ghrelin Receptor Family* , 2004, Journal of Biological Chemistry.

[77]  Katrin Sangkuhl,et al.  Mutant G-protein-coupled receptors as a cause of human diseases. , 2004, Pharmacology & therapeutics.

[78]  H. Wise,et al.  Signal transduction mechanism of the seabream growth hormone secretagogue receptor , 2004, FEBS letters.

[79]  H. Sham,et al.  Novel isoxazole carboxamides as growth hormone secretagogue receptor (GHS-R) antagonists. , 2004, Bioorganic & medicinal chemistry letters.

[80]  B. Conklin,et al.  Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans. , 2004, The Journal of clinical investigation.

[81]  H Gobind Khorana,et al.  Structural origins of constitutive activation in rhodopsin: Role of the K296/E113 salt bridge. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[82]  L. Pardo,et al.  Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor. , 2004, Molecular endocrinology.

[83]  D. Segaloff,et al.  Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation. , 2004, The Journal of clinical endocrinology and metabolism.

[84]  S. Wientroub,et al.  A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. , 2004, The Journal of clinical endocrinology and metabolism.

[85]  J. Martens,et al.  Insight into mutation-induced activation of the luteinizing hormone receptor: molecular simulations predict the functional behavior of engineered mutants at M398. , 2004, Molecular endocrinology.

[86]  G. Fain,et al.  Constitutive opsin signaling: night blindness or retinal degeneration? , 2004, Trends in molecular medicine.

[87]  David Handelsman,et al.  Complete Sertoli cell proliferation induced by follicle-stimulating hormone (FSH) independently of luteinizing hormone activity: evidence from genetic models of isolated FSH action. , 2004, Endocrinology.

[88]  T. Schwartz,et al.  Constitutive ghrelin receptor activity as a signaling set-point in appetite regulation. , 2004, Trends in pharmacological sciences.

[89]  C. Nappi,et al.  A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. , 2004, The Journal of clinical endocrinology and metabolism.

[90]  Ping Li,et al.  Identification of 2-[2-[2-(5-bromo-2- methoxyphenyl)-ethyl]-3-fluorophenyl]-4,5-dihydro-1H-imidazole (ML00253764), a small molecule melanocortin 4 receptor antagonist that effectively reduces tumor-induced weight loss in a mouse model. , 2004, Journal of medicinal chemistry.

[91]  D. Segaloff,et al.  Constitutive and Agonist-dependent Self-association of the Cell Surface Human Lutropin Receptor* , 2004, Journal of Biological Chemistry.

[92]  C. Schalin-Jäntti,et al.  Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults. , 2004, The Journal of clinical endocrinology and metabolism.

[93]  L. Weinstein,et al.  Inherited diseases involving g proteins and g protein-coupled receptors. , 2004, Annual review of medicine.

[94]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[95]  K. Huse,et al.  Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature. , 2004, The Journal of clinical endocrinology and metabolism.

[96]  T. Kenakin Efficacy as a vector: the relative prevalence and paucity of inverse agonism. , 2004, Molecular pharmacology.

[97]  P. Santisteban,et al.  TSH-activated signaling pathways in thyroid tumorigenesis , 2003, Molecular and Cellular Endocrinology.

[98]  Darrell R. Abernethy,et al.  International Union of Pharmacology: Approaches to the Nomenclature of Voltage-Gated Ion Channels , 2003, Pharmacological Reviews.

[99]  P. Donohoue,et al.  Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. , 2003, The Journal of clinical endocrinology and metabolism.

[100]  R. Paschke,et al.  Two somatic TSH receptor mutations in a patient with toxic metastasising follicular thyroid carcinoma and non-functional lung metastases. , 2003, Endocrine-related cancer.

[101]  T. Schwartz,et al.  High constitutive signaling of the ghrelin receptor--identification of a potent inverse agonist. , 2003, Molecular endocrinology.

[102]  B. Kobilka,et al.  The third intracellular loop and the carboxyl terminus of beta2-adrenergic receptor confer spontaneous activity of the receptor. , 2003, Molecular pharmacology.

[103]  D. Segaloff,et al.  Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity. , 2003, Endocrinology.

[104]  G. Fain,et al.  Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis , 2003, Nature Genetics.

[105]  R. Paschke,et al.  Biological activity of activating thyroid-stimulating hormone receptor mutants depends on the cellular context. , 2003, Endocrinology.

[106]  M. Ascoli,et al.  A constitutively active somatic mutation of the human lutropin receptor found in Leydig cell tumors activates the same families of G proteins as germ line mutations associated with Leydig cell hyperplasia. , 2003, Endocrinology.

[107]  Thomas Gudermann,et al.  Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. , 2003, The Journal of clinical endocrinology and metabolism.

[108]  R. Pierson,et al.  Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. , 2003, The New England journal of medicine.

[109]  F. Savagner,et al.  A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome. , 2003, The New England journal of medicine.

[110]  R. Adan,et al.  Poor Cell Surface Expression of Human Melanocortin-4 Receptor Mutations Associated with Obesity* , 2003, Journal of Biological Chemistry.

[111]  M. Kas,et al.  Inverse agonism gains weight. , 2003, Trends in pharmacological sciences.

[112]  H. Schiöth,et al.  The G-protein-coupled receptors in the human genome form five main families. Phylogenetic analysis, paralogon groups, and fingerprints. , 2003, Molecular pharmacology.

[113]  C. Donahue,et al.  Cell Surface Expression of the Melanocortin-4 Receptor Is Dependent on a C-terminal Di-isoleucine Sequence at Codons 316/317* , 2003, The Journal of Biological Chemistry.

[114]  R. Cone,et al.  Differential role of melanocortin receptor subtypes in cachexia. , 2003, Endocrinology.

[115]  S. Filetti,et al.  Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: unresolved questions. , 2003, Thyroid : official journal of the American Thyroid Association.

[116]  Krzysztof Palczewski,et al.  Sequence analyses of G-protein-coupled receptors: similarities to rhodopsin. , 2003, Biochemistry.

[117]  S. O’Rahilly,et al.  Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. , 2003, Human molecular genetics.

[118]  M. Conti,et al.  Desensitization of Gs-coupled receptor signaling by constitutively active mutants of the human lutropin/choriogonadotropin receptor. , 2003, The Journal of clinical endocrinology and metabolism.

[119]  P. Garriga,et al.  Unusual Thermal and Conformational Properties of the Rhodopsin Congenital Night Blindness Mutant Thr-94 → Ile* , 2003, The Journal of Biological Chemistry.

[120]  D. Oprian,et al.  Characterization of rhodopsin congenital night blindness mutant T94I. , 2003, Biochemistry.

[121]  Philippe Froguel,et al.  Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. , 2003, Human molecular genetics.

[122]  K. Sangkuhl,et al.  Structural Requirements for Mutational Lutropin/Choriogonadotropin Receptor Activation* , 2002, The Journal of Biological Chemistry.

[123]  Elaine C Meng,et al.  Constitutive Activation and Endocytosis of the Complement Factor 5a Receptor: Evidence for Multiple Activated Conformations of a G Protein‐Coupled Receptor , 2002, Traffic.

[124]  K. Kangawa,et al.  Ghrelin and the regulation of food intake and energy balance. , 2002, Molecular interventions.

[125]  David Handelsman,et al.  An activated human follicle-stimulating hormone (FSH) receptor stimulates FSH-like activity in gonadotropin-deficient transgenic mice. , 2002, Molecular endocrinology.

[126]  P. Corvol,et al.  Lessons from constitutively active mutants of G protein-coupled receptors , 2002, Trends in Endocrinology & Metabolism.

[127]  R. Seifert,et al.  Constitutive activity of G-protein-coupled receptors: cause of disease and common property of wild-type receptors , 2002, Naunyn-Schmiedeberg's Archives of Pharmacology.

[128]  F. Fanelli,et al.  A Model for Constitutive Lutropin Receptor Activation Based on Molecular Simulation and Engineered Mutations in Transmembrane Helices 6 and 7* , 2002, The Journal of Biological Chemistry.

[129]  D. Mizrachi,et al.  Chimeras of the rat and human FSH receptors (FSHRs) identify residues that permit or suppress transmembrane 6 mutation-induced constitutive activation of the FSHR via rearrangements of hydrophobic interactions between helices 6 and 7. , 2002, Molecular endocrinology.

[130]  Francesca Fanelli,et al.  Mutagenesis and modelling of the alpha(1b)-adrenergic receptor highlight the role of the helix 3/helix 6 interface in receptor activation. , 2002, Molecular pharmacology.

[131]  S. Costagliola,et al.  Activation of the cAMP pathway by the TSH receptor involves switching of the ectodomain from a tethered inverse agonist to an agonist. , 2002, Molecular endocrinology.

[132]  M. Ascoli,et al.  The lutropin/choriogonadotropin receptor, a 2002 perspective. , 2002, Endocrine reviews.

[133]  P. Canto,et al.  Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors. , 2002, American journal of medical genetics.

[134]  C. Galet,et al.  MA-10 cells transfected with the human lutropin/choriogonadotropin receptor (hLHR): a novel experimental paradigm to study the functional properties of the hLHR. , 2002, Endocrinology.

[135]  B. Hauffa,et al.  Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor. , 2002, The Journal of clinical endocrinology and metabolism.

[136]  C. Galet,et al.  The Association of Arrestin-3 with the Human Lutropin/Choriogonadotropin Receptor Depends Mostly on Receptor Activation Rather than on Receptor Phosphorylation* , 2002, The Journal of Biological Chemistry.

[137]  T. Gudermann,et al.  The structural basis of G-protein-coupled receptor function and dysfunction in human diseases. , 2002, Reviews of physiology, biochemistry and pharmacology.

[138]  A. Shenker Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty. , 2002, Receptors & channels.

[139]  T. Gudermann,et al.  The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. , 2001, The Journal of clinical endocrinology and metabolism.

[140]  S. Costagliola,et al.  A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism. , 2001, European journal of endocrinology.

[141]  J. Ballesteros,et al.  Activation of the β2-Adrenergic Receptor Involves Disruption of an Ionic Lock between the Cytoplasmic Ends of Transmembrane Segments 3 and 6* , 2001, The Journal of Biological Chemistry.

[142]  B. Wisse,et al.  Reversal of cancer anorexia by blockade of central melanocortin receptors in rats. , 2001, Endocrinology.

[143]  B. Wisse,et al.  A preprandial rise in plasma ghrelin levels suggests a role in meal initiation in humans. , 2001, Diabetes.

[144]  S. Costagliola,et al.  Effects of mutations involving the highly conserved S281HCC motif in the extracellular domain of the thyrotropin (TSH) receptor on TSH binding and constitutive activity. , 2001, Endocrinology.

[145]  K. Nakamura,et al.  Pleiotropic effects of substitutions of a highly conserved leucine in transmembrane helix III of the human lutropin/choriogonadotropin receptor with respect to constitutive activation and hormone responsiveness. , 2001, Molecular endocrinology.

[146]  C. Haskell-Luevano,et al.  Agouti-related protein functions as an inverse agonist at a constitutively active brain melanocortin-4 receptor , 2001, Regulatory Peptides.

[147]  R. Cone,et al.  Role of the central melanocortin system in cachexia. , 2001, Cancer research.

[148]  R. Baron,et al.  Activated parathyroid hormone/parathyroid hormone-related protein receptor in osteoblastic cells differentially affects cortical and trabecular bone. , 2001, The Journal of clinical investigation.

[149]  M. Nakazato,et al.  A role for ghrelin in the central regulation of feeding , 2001, Nature.

[150]  A. Bisello,et al.  Cellular distribution of constitutively active mutant parathyroid hormone (PTH)/PTH-related protein receptors and regulation of cyclic adenosine 3',5'-monophosphate signaling by beta-arrestin2. , 2001, Molecular endocrinology.

[151]  B. Lanske,et al.  Partial Rescue of PTH/PTHrP Receptor Knockout Mice by Targeted Expression of the Jansen Transgene. , 2001, Endocrinology.

[152]  Knut Krohn,et al.  Detection of thyroid-stimulating hormone receptor and Gsα mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis , 2001, Journal of Molecular Medicine.

[153]  R. Adan,et al.  AgRP(83-132) acts as an inverse agonist on the human-melanocortin-4 receptor. , 2001, Molecular endocrinology.

[154]  Krzysztof Palczewski,et al.  Crystal Structure of Rhodopsin: A G‐Protein‐Coupled Receptor , 2002, Science.

[155]  F. Fanelli,et al.  Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix. , 2000, The Journal of clinical endocrinology and metabolism.

[156]  R. Paschke,et al.  Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism. , 2000, Thyroid : official journal of the American Thyroid Association.

[157]  M. Ascoli,et al.  Effect of activating and inactivating mutations on the phosphorylation and trafficking of the human lutropin/choriogonadotropin receptor. , 2000, Molecular endocrinology.

[158]  A. Latronico,et al.  No evidence of somatic activating mutations on gonadotropin receptor genes in sex cord stromal tumors. , 2000, Fertility and sterility.

[159]  A. Latronico,et al.  The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary–gonadal axis in both sexes , 2000, Clinical endocrinology.

[160]  S. Filetti,et al.  A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism. , 2000, Thyroid : official journal of the American Thyroid Association.

[161]  D. Larizza,et al.  Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene. , 2000, Thyroid : official journal of the American Thyroid Association.

[162]  R. Paschke,et al.  Functional characterization of five constitutively activating thyrotrophin receptor mutations , 2000, Clinical endocrinology.

[163]  T. Mori,et al.  A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient. , 2000, European journal of endocrinology.

[164]  T. Gudermann,et al.  Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood , 2000, Langenbeck's Archives of Surgery.

[165]  I. Huhtaniemi,et al.  Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. , 2000, Endocrine reviews.

[166]  B. Kobilka,et al.  Activation of the Luteinizing Hormone Receptor Following Substitution of Ser-277 with Selective Hydrophobic Residues in the Ectodomain Hinge Region* , 2000, The Journal of Biological Chemistry.

[167]  A. Abell,et al.  Constitutive activation of G protein-coupled receptors as a result of selective substitution of a conserved leucine residue in transmembrane helix III. , 2000, Molecular endocrinology.

[168]  S. Filetti,et al.  Induction of specific phosphodiesterase isoforms by constitutive activation of the cAMP pathway in autonomous thyroid adenomas. , 2000, The Journal of clinical endocrinology and metabolism.

[169]  D. Medina,et al.  Thyrotropin-dependent proliferation of in vitro rat thyroid cell systems. , 2000, European journal of endocrinology.

[170]  D. Puett,et al.  Functional role of transmembrane helix 7 in the activation of the heptahelical lutropin receptor. , 2000, Molecular endocrinology.

[171]  F. Fanelli,et al.  Theoretical study on mutation-induced activation of the luteinizing hormone receptor. , 2000, Journal of molecular biology.

[172]  U. Gether Uncovering molecular mechanisms involved in activation of G protein-coupled receptors. , 2000, Endocrine reviews.

[173]  K. Clément,et al.  Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. , 2000, The Journal of clinical investigation.

[174]  P. Kopp,et al.  Substitutions of tyrosine 601 in the human thyrotropin receptor result in increase or loss of basal activation of the cyclic adenosine monophosphate pathway and disrupt coupling to Gq/11. , 2000, Thyroid : official journal of the American Thyroid Association.

[175]  B. Barisas,et al.  Luteinizing hormone receptors are self-associated in the plasma membrane. , 2000, Endocrinology.

[176]  R. Mackenzie,et al.  Functional Characterization of Mutations in Melanocortin-4 Receptor Associated with Human Obesity* , 1999, The Journal of Biological Chemistry.

[177]  M. Nakazato,et al.  Ghrelin is a growth-hormone-releasing acylated peptide from stomach , 1999, Nature.

[178]  D. Doyle,et al.  Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. , 1999, The New England journal of medicine.

[179]  P. Kopp,et al.  Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil. , 1999, Thyroid : official journal of the American Thyroid Association.

[180]  C. Esapa,et al.  A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis. , 1999, Thyroid : official journal of the American Thyroid Association.

[181]  L. Abuin,et al.  Constitutively active mutants of the β1‐adrenergic receptor , 1999 .

[182]  H. Jüppner,et al.  A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. , 1999, The Journal of clinical endocrinology and metabolism.

[183]  M. Ivan,et al.  Contrasting effects of activating mutations of GαS and the thyrotropin receptor on proliferation and differentiation of thyroid follicular cells , 1999, Oncogene.

[184]  H. Brunner,et al.  Analysis of mutations in genes of the follicle-stimulating hormone receptor signaling pathway in ovarian granulosa cell tumors. , 1999, The Journal of clinical endocrinology and metabolism.

[185]  O. Lichtarge,et al.  C5a Receptor Activation , 1999, The Journal of Biological Chemistry.

[186]  A. Spiegel,et al.  A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor , 1999, FEBS letters.

[187]  J. Bockaert,et al.  Molecular tinkering of G protein‐coupled receptors: an evolutionary success , 1999, The EMBO journal.

[188]  E. Papini,et al.  Screening of thyrotropin receptor mutations by fine-needle aspiration biopsy in autonomous functioning thyroid nodules in multinodular goiters. , 1999, Thyroid : official journal of the American Thyroid Association.

[189]  J. Parma,et al.  A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family. , 1999, The Journal of clinical endocrinology and metabolism.

[190]  E C Hulme,et al.  The Functional Topography of Transmembrane Domain 3 of the M1 Muscarinic Acetylcholine Receptor, Revealed by Scanning Mutagenesis* , 1999, The Journal of Biological Chemistry.

[191]  J. Martens,et al.  A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty. , 1999, The Journal of clinical endocrinology and metabolism.

[192]  S. Heymsfield,et al.  Identification and functional analysis of novel human melanocortin-4 receptor variants. , 1999, Diabetes.

[193]  J. Findlay,et al.  A novel mutation within the rhodopsin gene (Thr‐94‐Ile) causing autosomal dominant congenital stationary night blindness , 1999, Human mutation.

[194]  A. Latronico,et al.  HUMAN GENETICS '99: SEXUAL DEVELOPMENT Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein-Coupled Receptors , 1999 .

[195]  S. Filetti,et al.  A Val 677 activating mutation of the thyrotropin receptor in a Hürthle cell thyroid carcinoma associated with thyrotoxicosis. , 1999, Thyroid : official journal of the American Thyroid Association.

[196]  C. Brain,et al.  A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity. , 1999, Molecular genetics and metabolism.

[197]  J. Parma,et al.  Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin. , 1998, The New England journal of medicine.

[198]  B. Rapoport,et al.  The Thyrotropin (TSH)-Releasing Hormone Receptor: Interaction with TSH and Autoantibodies , 1998 .

[199]  C. Bowers,et al.  Growth hormone-releasing peptide (GHRP) , 1998, Cellular and Molecular Life Sciences CMLS.

[200]  R. Scully,et al.  Absence of mutations in the FSH receptor in ovarian granulosa cell tumors. , 1998, The Journal of clinical endocrinology and metabolism.

[201]  U. Gembruch,et al.  Ovarian hyperstimulation syndrome (OHSS) in a spontaneous pregnancy with fetal and placental triploidy: information about the general pathophysiology of OHSS. , 1998, Human reproduction.

[202]  D. Underwood,et al.  Structural requirements for the activation of the human growth hormone secretagogue receptor by peptide and nonpeptide secretagogues. , 1998, Molecular endocrinology.

[203]  Xuebo Liu,et al.  A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. , 1998, The Journal of clinical endocrinology and metabolism.

[204]  O. Rennert,et al.  Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor. , 1998, European journal of endocrinology.

[205]  R. Paschke,et al.  Deletions in the Third Intracellular Loop of the Thyrotropin Receptor , 1998, The Journal of Biological Chemistry.

[206]  E. Geras-Raaka,et al.  Constitutively Signaling G-Protein-Coupled Receptors and Human Disease , 1998, Trends in Endocrinology & Metabolism.

[207]  E. Milgrom,et al.  Oncogenic potential of a mutant human thyrotropin receptor expressed in FRTL-5 cells , 1998, Oncogene.

[208]  E. Nieschlag,et al.  A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty. , 1998, The Journal of clinical endocrinology and metabolism.

[209]  F. Cetani,et al.  Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma. , 1998, The Journal of clinical endocrinology and metabolism.

[210]  A. Shenker Disorders Caused by Mutations of the Lutropin/ Choriogonadotropin Receptor Gene , 1998 .

[211]  T. Schwartz,et al.  Constitutive activity of glucagon receptor mutants. , 1998, Molecular endocrinology.

[212]  B. Rapoport,et al.  The thyrotropin (TSH) receptor: interaction with TSH and autoantibodies. , 1998, Endocrine reviews.

[213]  A. Spiegel G Proteins, Receptors, and Disease , 1998, Contemporary Endocrinology.

[214]  H. Burger,et al.  No evidence of a role for mutations or polymorphisms of the follicle-stimulating hormone receptor in ovarian granulosa cell tumors. , 1998, The Journal of clinical endocrinology and metabolism.

[215]  B. Lanske,et al.  Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[216]  D. Oprian,et al.  Synthesis and characterization of a novel retinylamine analog inhibitor of constitutively active rhodopsin mutants found in patients with autosomal dominant retinitis pigmentosa. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[217]  M. Lohse,et al.  Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism. , 1997, The Journal of pediatrics.

[218]  G. Milligan,et al.  Inverse agonism and the regulation of receptor number. , 1997, Trends in pharmacological sciences.

[219]  E. Nieschlag,et al.  The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. , 1997, Endocrine reviews.

[220]  R. Paschke,et al.  Somatic Mutations in the Thyrotropin Receptor Gene and Not in the Gsα Protein Gene in 31 Toxic Thyroid Nodules1 , 1997 .

[221]  R. Paschke,et al.  Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. , 1997, The Journal of clinical endocrinology and metabolism.

[222]  S. Filetti,et al.  Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma. , 1997, The Journal of clinical endocrinology and metabolism.

[223]  R. Millar,et al.  Absence of mutations in exon 3 of the GnRH receptor in human gonadotroph adenomas , 1997, Clinical endocrinology.

[224]  P. Kopp,et al.  Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. , 1997, Thyroid : official journal of the American Thyroid Association.

[225]  P. Kopp,et al.  Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281-->isoleucine) in the extracellular domain of the thyrotropin receptor. , 1997, The Journal of clinical investigation.

[226]  A. Porcellini,et al.  Mutations of thyrotropin receptor isolated from thyroid autonomous functioning adenomas confer TSH-independent growth to thyroid cells , 1997, Oncogene.

[227]  P. Rocmans,et al.  Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. , 1997, The Journal of clinical endocrinology and metabolism.

[228]  G. Milligan,et al.  Up-regulation of the levels of expression and function of a constitutively active mutant of the hamster alpha1B-adrenoceptor by ligands that act as inverse agonists. , 1997, The Biochemical journal.

[229]  J. Parma,et al.  Constitutive activation of the TSH receptor by spontaneous mutations affecting the N‐terminal extracellular domain , 1997, FEBS letters.

[230]  H. Jüppner,et al.  Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. , 1997, Molecular endocrinology.

[231]  A. Shenker,et al.  A model of the lutropin/choriogonadotropin receptor: insights into the structural and functional effects of constitutively activating mutations. , 1997, Protein engineering.

[232]  R. Scully,et al.  A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors. , 1997, The Journal of clinical endocrinology and metabolism.

[233]  P. Corvol,et al.  Somatic mutations of the angiotensin II (AT1) receptor gene are not present in aldosterone-producing adenoma. , 1997, The Journal of clinical endocrinology and metabolism.

[234]  D. Underwood,et al.  Structural Requirements for the Activation of the Human Growth Hormone Secretagogue Receptor by Peptide and Nonpeptide Secretagogues , 1997 .

[235]  J. Parma,et al.  Two autonomous nodules of a patient with multinodular goiter harbor different activating mutations of the thyrotropin receptor gene. , 1997, The Journal of clinical endocrinology and metabolism.

[236]  A. Shenker,et al.  The Role of Asp578 in Maintaining the Inactive Conformation of the Human Lutropin/Choriogonadotropin Receptor* , 1996, The Journal of Biological Chemistry.

[237]  G. Milligan,et al.  Inverse agonist-induced up-regulation of the human beta2-adrenoceptor in transfected neuroblastoma X glioma hybrid cells. , 1996, Molecular pharmacology.

[238]  J. Fagin,et al.  Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation. , 1996, The Journal of clinical endocrinology and metabolism.

[239]  J. Parma,et al.  Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study. , 1996, The Journal of clinical endocrinology and metabolism.

[240]  B. Kobilka,et al.  Transmembrane Regions V and VI of the Human Luteinizing Hormone Receptor Are Required for Constitutive Activation by a Mutation in the Third Intracellular Loop* , 1996, The Journal of Biological Chemistry.

[241]  A. Parfitt,et al.  Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. , 1996, The New England journal of medicine.

[242]  T. Kenakin,et al.  The cubic ternary complex receptor-occupancy model. III. resurrecting efficacy. , 1996, Journal of theoretical biology.

[243]  Patrick R. Griffin,et al.  A Receptor in Pituitary and Hypothalamus That Functions in Growth Hormone Release , 1996, Science.

[244]  A. Hsueh,et al.  Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty. , 1996, Biochemical and molecular medicine.

[245]  H. Jüppner Jansen's metaphyseal chondrodysplasia A disorder due to a PTH/PTHrP receptor gene mutation , 1996, Trends in Endocrinology & Metabolism.

[246]  R. Leurs,et al.  Inverse agonism of histamine H2 antagonist accounts for upregulation of spontaneously active histamine H2 receptors. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[247]  D. Oprian,et al.  Activating mutations of rhodopsin and other G protein-coupled receptors. , 1996, Annual Review of Biophysics and Biomolecular Structure.

[248]  M. Polak,et al.  A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. , 1996, The Journal of clinical endocrinology and metabolism.

[249]  J. Baron,et al.  Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. , 1996, Human molecular genetics.

[250]  E. Nieschlag,et al.  An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. , 1996, The Journal of clinical endocrinology and metabolism.

[251]  S. Filetti,et al.  Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas. , 1996, The Journal of clinical endocrinology and metabolism.

[252]  M. Saji,et al.  A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene. , 1996, Biochemical and biophysical research communications.

[253]  S. Swillens,et al.  Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. , 1996, The Journal of clinical endocrinology and metabolism.

[254]  P. Smith,et al.  A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. , 1996, Journal of medical genetics.

[255]  G. Schultz,et al.  The human thyrotropin receptor: a heptahelical receptor capable of stimulating members of all four G protein families. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[256]  A. Spiegel,et al.  Defects in G protein-coupled signal transduction in human disease. , 1996, Annual review of physiology.

[257]  R. Paschke,et al.  The TSH receptor and thyroid diseases. , 1996, Bailliere's clinical endocrinology and metabolism.

[258]  S. Filetti,et al.  Activating mutations of the TSH receptor in differentiated thyroid carcinomas. , 1995, Oncogene.

[259]  H. Brunner,et al.  A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. , 1995, The Journal of clinical endocrinology and metabolism.

[260]  D. Oprian,et al.  Constitutive activation of opsin: interaction of mutants with rhodopsin kinase and arrestin. , 1995, Biochemistry.

[261]  S. Swillens,et al.  Somatic and germline mutations of the TSH receptor gene in thyroid diseases. , 1995, The Journal of clinical endocrinology and metabolism.

[262]  N. Ishikawa,et al.  Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan. , 1995, The Journal of clinical endocrinology and metabolism.

[263]  C. Tsigos,et al.  A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. , 1995, The Journal of clinical endocrinology and metabolism.

[264]  D. Johnston,et al.  Design and biological activities of L-163,191 (MK-0677): a potent, orally active growth hormone secretagogue. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[265]  A. Shenker,et al.  G protein-coupled receptor structure and function: the impact of disease-causing mutations. , 1995, Bailliere's clinical endocrinology and metabolism.

[266]  G. Kletter,et al.  Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). , 1995, Journal of medical genetics.

[267]  S. Swillens,et al.  Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosphate-Ca2+ cascades. , 1995, Molecular endocrinology.

[268]  T. Dryja,et al.  Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[269]  H. Jüppner,et al.  A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. , 1995, Science.

[270]  M. Saji,et al.  A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. , 1995, The Journal of clinical endocrinology and metabolism.

[271]  S. Asa,et al.  Are activating mutations of the adrenocorticotropin receptor involved in adrenal cortical neoplasia? , 1995, Life sciences.

[272]  L. Blomberg,et al.  Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[273]  C. Tsigos,et al.  No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasms. , 1995, The Journal of clinical endocrinology and metabolism.

[274]  M. Geffner,et al.  Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. , 1995, Human molecular genetics.

[275]  M. Alpern,et al.  Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[276]  J. Parma,et al.  Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. , 1995, The New England journal of medicine.

[277]  J. Ballesteros,et al.  [19] Integrated methods for the construction of three-dimensional models and computational probing of structure-function relations in G protein-coupled receptors , 1995 .

[278]  G. Milligan,et al.  Inverse agonism: pharmacological curiosity or potential therapeutic strategy? , 1995, Trends in pharmacological sciences.

[279]  M. Polymeropoulos,et al.  A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. , 1994, The Journal of clinical endocrinology and metabolism.

[280]  R. Paschke,et al.  Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. , 1994, The Journal of clinical endocrinology and metabolism.

[281]  M. Caron,et al.  High agonist-independent activity is a distinguishing feature of the dopamine D1B receptor subtype. , 1994, The Journal of biological chemistry.

[282]  J. Seidman,et al.  Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation , 1994, Nature Genetics.

[283]  K. Fahmy,et al.  Characterization of rhodopsin-transducin interaction: a mutant rhodopsin photoproduct with a protonated Schiff base activates transducin. , 1994, Biochemistry.

[284]  A. Porcellini,et al.  Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. , 1994, The Journal of clinical endocrinology and metabolism.

[285]  A. Allgeier,et al.  Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism , 1994, Nature Genetics.

[286]  K. Palczewski,et al.  Opsins with mutations at the site of chromophore attachment constitutively activate transducin but are not phosphorylated by rhodopsin kinase. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[287]  R. Lefkowitz,et al.  A constitutively active mutant beta 2-adrenergic receptor is constitutively desensitized and phosphorylated. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[288]  D. Oprian,et al.  Active site-directed inactivation of constitutively active mutants of rhodopsin. , 1994, The Journal of biological chemistry.

[289]  D. Oprian,et al.  Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness , 1994, Nature.

[290]  Kolakowski Lf GCRDB: A G-PROTEIN-COUPLED RECEPTOR DATABASE , 1994 .

[291]  Jacques Young,et al.  Failure of combined follicle-stimulating hormone-testosterone administration to initiate and/or maintain spermatogenesis in men with hypogonadotropic hypogonadism. , 1993, The Journal of clinical endocrinology and metabolism.

[292]  H. Kremer,et al.  Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. , 1993, Human molecular genetics.

[293]  T. Minegishi,et al.  A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty , 1993, Nature.

[294]  J. Parma,et al.  Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas , 1993, Nature.

[295]  L. Weinstein,et al.  Abnormalities in G protein-coupled signal transduction pathways in human disease. , 1993, The Journal of clinical investigation.

[296]  R. Lefkowitz,et al.  Constitutively active mutants of the alpha 2-adrenergic receptor. , 1993, The Journal of biological chemistry.

[297]  D. Oprian,et al.  Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness , 1993, Nature Genetics.

[298]  J. Nadeau,et al.  Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function , 1993, Cell.

[299]  R. Lefkowitz,et al.  A mutation-induced activated state of the beta 2-adrenergic receptor. Extending the ternary complex model. , 1993, The Journal of biological chemistry.

[300]  D. Oprian,et al.  Constitutively active mutants of rhodopsin , 1992, Neuron.

[301]  M. Caron,et al.  Constitutive activation of the alpha 1B-adrenergic receptor by all amino acid substitutions at a single site. Evidence for a region which constrains receptor activation. , 1992, The Journal of biological chemistry.

[302]  A. Bird,et al.  Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. , 1991, Genomics.

[303]  M. Caron,et al.  Regions of the alpha 1-adrenergic receptor involved in coupling to phosphatidylinositol hydrolysis and enhanced sensitivity of biological function. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[304]  David W. Yandell,et al.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa , 1990, Nature.

[305]  A Herz,et al.  Antagonists with negative intrinsic activity at delta opioid receptors coupled to GTP-binding proteins. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[306]  M. Caron,et al.  The mammalian beta 2-adrenergic receptor: reconstitution of functional interactions between pure receptor and pure stimulatory nucleotide binding protein of the adenylate cyclase system. , 1984, Biochemistry.

[307]  David Ninan,et al.  Thyroid Disorders , 1985, Absolute Obstetric Anesthesia Review.