Copyright © 2001 by The Endocrine Society
Endocrine Manifestations of Stimulatory G Protein
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E. Fernandez-Rebollo, B. Garcia-Cuartero, I. Garin, C. Largo, F. Martinez, C. Garcia-Lacalle, L. Castano, M. Bastepe, and G. Perez de Nanclares Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B J. Clin. Endocrinol. Metab., February 1, 2010; 95(2): 765 - 771. [Abstract] [Full Text] [PDF] |
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G. Mantovani, L. de Sanctis, A. M. Barbieri, F. M. Elli, V. Bollati, V. Vaira, P. Labarile, S. Bondioni, E. Peverelli, A. G. Lania, et al. Pseudohypoparathyroidism and GNAS Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients J. Clin. Endocrinol. Metab., February 1, 2010; 95(2): 651 - 658. [Abstract] [Full Text] [PDF] |
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L. S Kirschner, Z. Yin, G. N Jones, and E. Mahoney Mouse models of altered protein kinase A signaling Endocr. Relat. Cancer, September 1, 2009; 16(3): 773 - 793. [Abstract] [Full Text] [PDF] |
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F Palos-Paz, O Perez-Guerra, J Cameselle-Teijeiro, C Rueda-Chimeno, F Barreiro-Morandeira, J Lado-Abeal, the Galician Group for the Study of Toxic Multinod, D Araujo Vilar, R Argueso, O Barca, et al. Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain Eur. J. Endocrinol., November 1, 2008; 159(5): 623 - 631. [Abstract] [Full Text] [PDF] |
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A.-S. Balavoine, M. Ladsous, F.-L. Velayoudom, V. Vlaeminck, C. Cardot-Bauters, M. d'Herbomez, and J.-L. Wemeau Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH Eur. J. Endocrinol., October 1, 2008; 159(4): 431 - 437. [Abstract] [Full Text] [PDF] |
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S. Krechowec and A. Plagge Physiological Dysfunctions Associated with Mutations of the Imprinted Gnas Locus Physiology, August 1, 2008; 23(4): 221 - 229. [Abstract] [Full Text] [PDF] |
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V. Mariot, S. Maupetit-Mehouas, C. Sinding, M.-L. Kottler, and A. Linglart A Maternal Epimutation of GNAS Leads to Albright Osteodystrophy and Parathyroid Hormone Resistance J. Clin. Endocrinol. Metab., March 1, 2008; 93(3): 661 - 665. [Abstract] [Full Text] [PDF] |
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A. Plagge, G. Kelsey, and E. L Germain-Lee Physiological functions of the imprinted Gnas locus and its protein variants G{alpha}s and XL{alpha}s in human and mouse J. Endocrinol., February 1, 2008; 196(2): 193 - 214. [Abstract] [Full Text] [PDF] |
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Z. Yin, L. Williams-Simons, A. F. Parlow, S. Asa, and L. S. Kirschner Pituitary-Specific Knockout of the Carney Complex Gene Prkar1a Leads to Pituitary Tumorigenesis Mol. Endocrinol., February 1, 2008; 22(2): 380 - 387. [Abstract] [Full Text] [PDF] |
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N. Ogata, H. Kawaguchi, U.-i. Chung, S. I. Roth, and G. V. Segre Continuous Activation of G{alpha}q in Osteoblasts Results in Osteopenia through Impaired Osteoblast Differentiation J. Biol. Chem., December 7, 2007; 282(49): 35757 - 35764. [Abstract] [Full Text] [PDF] |
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T. Xie, M. Chen, Q.-H. Zhang, Z. Ma, and L. S. Weinstein cell-specific deficiency of the stimulatory G protein {alpha}-subunit Gs{alpha} leads to reduced cell mass and insulin-deficient diabetes PNAS, December 4, 2007; 104(49): 19601 - 19606. [Abstract] [Full Text] [PDF] |
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G. Mantovani, S. Bondioni, A. Linglart, M. Maghnie, M. Cisternino, S. Corbetta, A. G. Lania, P. Beck-Peccoz, and A. Spada Genetic Analysis and Evaluation of Resistance to Thyrotropin and Growth Hormone-Releasing Hormone in Pseudohypoparathyroidism Type Ib J. Clin. Endocrinol. Metab., September 1, 2007; 92(9): 3738 - 3742. [Abstract] [Full Text] [PDF] |
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G. P. de Nanclares, E. Fernandez-Rebollo, I. Santin, B. Garcia-Cuartero, S. Gaztambide, E. Menendez, M. J. Morales, M. Pombo, J. R. Bilbao, F. Barros, et al. Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright's Hereditary Osteodystrophy J. Clin. Endocrinol. Metab., June 1, 2007; 92(6): 2370 - 2373. [Abstract] [Full Text] [PDF] |
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L. F. Frohlich, M. Bastepe, D. Ozturk, H. Abu-Zahra, and H. Juppner Lack of Gnas Epigenetic Changes and Pseudohypoparathyroidism Type Ib in Mice with Targeted Disruption of Syntaxin-16 Endocrinology, June 1, 2007; 148(6): 2925 - 2935. [Abstract] [Full Text] [PDF] |
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D. N. Long, S. McGuire, M. A. Levine, L. S. Weinstein, and E. L. Germain-Lee Body Mass Index Differences in Pseudohypoparathyroidism Type 1a Versus Pseudopseudohypoparathyroidism May Implicate Paternal Imprinting of G{alpha}s in the Development of Human Obesity J. Clin. Endocrinol. Metab., March 1, 2007; 92(3): 1073 - 1079. [Abstract] [Full Text] [PDF] |
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F. Galland, P. Kamenicky, H. Affres, Y. Reznik, D. Pontvert, Y. Le Bouc, J. Young, and P. Chanson McCune-Albright Syndrome and Acromegaly: Effects of Hypothalamopituitary Radiotherapy and/or Pegvisomant in Somatostatin Analog-Resistant Patients J. Clin. Endocrinol. Metab., December 1, 2006; 91(12): 4957 - 4961. [Abstract] [Full Text] [PDF] |
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S. Hahn, U. H Frey, W. Siffert, S. Tan, K. Mann, and O. E Janssen The CC genotype of the GNAS T393C polymorphism is associated with obesity and insulin resistance in women with polycystic ovary syndrome. Eur. J. Endocrinol., November 1, 2006; 155(5): 763 - 770. [Abstract] [Full Text] [PDF] |
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T. Xie, A. Plagge, O. Gavrilova, S. Pack, W. Jou, E. W. Lai, M. Frontera, G. Kelsey, and L. S. Weinstein The Alternative Stimulatory G Protein {alpha}-Subunit XL{alpha}s Is a Critical Regulator of Energy and Glucose Metabolism and Sympathetic Nerve Activity in Adult Mice J. Biol. Chem., July 14, 2006; 281(28): 18989 - 18999. [Abstract] [Full Text] [PDF] |
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E. W. Hillhouse and D. K. Grammatopoulos The Molecular Mechanisms Underlying the Regulation of the Biological Activity of Corticotropin-Releasing Hormone Receptors: Implications for Physiology and Pathophysiology Endocr. Rev., May 1, 2006; 27(3): 260 - 286. [Abstract] [Full Text] [PDF] |
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A. Linglart, M. J. Mahon, M. A. Kerachian, D. M. Berlach, G. N. Hendy, H. Juppner, and M. Bastepe Coding GNAS Mutations Leading to Hormone Resistance Impair in Vitro Agonist- and Cholera Toxin-Induced Adenosine Cyclic 3',5'-Monophosphate Formation Mediated by Human XL{alpha}s Endocrinology, May 1, 2006; 147(5): 2253 - 2262. [Abstract] [Full Text] [PDF] |
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M. Bastepe and H. Juppner Pseudohypoparathyroidism, Gs{alpha}, and the GNAS Locus IBMS BoneKEy, December 1, 2005; 2(12): 20 - 32. [Full Text] [PDF] |
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K. S. Nadella and L. S. Kirschner Disruption of Protein Kinase A Regulation Causes Immortalization and Dysregulation of D-Type Cyclins Cancer Res., November 15, 2005; 65(22): 10307 - 10315. [Abstract] [Full Text] [PDF] |
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E. L. Germain-Lee, W. Schwindinger, J. L. Crane, R. Zewdu, L. S. Zweifel, G. Wand, D. L. Huso, M. Saji, M. D. Ringel, and M. A. Levine A Mouse Model of Albright Hereditary Osteodystrophy Generated by Targeted Disruption of Exon 1 of the Gnas Gene Endocrinology, November 1, 2005; 146(11): 4697 - 4709. [Abstract] [Full Text] [PDF] |
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N. Wettschureck and S. Offermanns Mammalian G Proteins and Their Cell Type Specific Functions Physiol Rev, October 1, 2005; 85(4): 1159 - 1204. [Abstract] [Full Text] [PDF] |
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S. J. Marx and W. F. Simonds Hereditary Hormone Excess: Genes, Molecular Pathways, and Syndromes Endocr. Rev., August 1, 2005; 26(5): 615 - 661. [Abstract] [Full Text] [PDF] |
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A. Sakamoto, M. Chen, T. Nakamura, T. Xie, G. Karsenty, and L. S. Weinstein Deficiency of the G-protein {alpha}-Subunit Gs{alpha} in Osteoblasts Leads to Differential Effects on Trabecular and Cortical Bone J. Biol. Chem., June 3, 2005; 280(22): 21369 - 21375. [Abstract] [Full Text] [PDF] |
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M. Chen, O. Gavrilova, J. Liu, T. Xie, C. Deng, A. T. Nguyen, L. M. Nackers, J. Lorenzo, L. Shen, and L. S. Weinstein Alternative Gnas gene products have opposite effects on glucose and lipid metabolism PNAS, May 17, 2005; 102(20): 7386 - 7391. [Abstract] [Full Text] [PDF] |
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J. Liu, M. Chen, C. Deng, D. Bourc'his, J. G. Nealon, B. Erlichman, T. H. Bestor, and L. S. Weinstein From the Cover: Identification of the control region for tissue-specific imprinting of the stimulatory G protein {alpha}-subunit PNAS, April 12, 2005; 102(15): 5513 - 5518. [Abstract] [Full Text] [PDF] |
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F. H. Mahmud, A. Linglart, M. Bastepe, H. Juppner, and A. N. Lteif Molecular Diagnosis of Pseudohypoparathyroidism Type Ib in a Family With Presumed Paroxysmal Dyskinesia Pediatrics, February 1, 2005; 115(2): e242 - e244. [Abstract] [Full Text] [PDF] |
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J. Liu, J. G. Nealon, and L. S. Weinstein Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB Hum. Mol. Genet., January 1, 2005; 14(1): 95 - 102. [Abstract] [Full Text] [PDF] |
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E. Laspa, M. Bastepe, H. Juppner, and A. Tsatsoulis Phenotypic and Molecular Genetic Aspects of Pseudohypoparathyroidism Type Ib in a Greek Kindred: Evidence for Enhanced Uric Acid Excretion Due to Parathyroid Hormone Resistance J. Clin. Endocrinol. Metab., December 1, 2004; 89(12): 5942 - 5947. [Abstract] [Full Text] [PDF] |
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G. Mantovani, S. Bondioni, M. Locatelli, C. Pedroni, A. G. Lania, E. Ferrante, M. Filopanti, P. Beck-Peccoz, and A. Spada Biallelic Expression of the Gs{alpha} Gene in Human Bone and Adipose Tissue J. Clin. Endocrinol. Metab., December 1, 2004; 89(12): 6316 - 6319. [Abstract] [Full Text] [PDF] |
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L. S. Weinstein, J. Liu, A. Sakamoto, T. Xie, and M. Chen Minireview: GNAS: Normal and Abnormal Functions Endocrinology, December 1, 2004; 145(12): 5459 - 5464. [Abstract] [Full Text] [PDF] |
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M. Bastepe, L. S. Weinstein, N. Ogata, H. Kawaguchi, H. Juppner, H. M. Kronenberg, and U.-i. Chung Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo PNAS, October 12, 2004; 101(41): 14794 - 14799. [Abstract] [Full Text] [PDF] |
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M. Chen, M. Haluzik, N. J. Wolf, J. Lorenzo, K. R. Dietz, M. L. Reitman, and L. S. Weinstein Increased Insulin Sensitivity in Paternal Gnas Knockout Mice Is Associated with Increased Lipid Clearance Endocrinology, September 1, 2004; 145(9): 4094 - 4102. [Abstract] [Full Text] [PDF] |
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J. Abramowitz, D. Grenet, M. Birnbaumer, H. N. Torres, and L. Birnbaumer XL{alpha}s, the extra-long form of the {alpha}-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex PNAS, June 1, 2004; 101(22): 8366 - 8371. [Abstract] [Full Text] [PDF] |
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A. Sakamoto, J. Liu, A. Greene, M. Chen, and L. S. Weinstein Tissue-specific imprinting of the G protein Gs{alpha} is associated with tissue-specific differences in histone methylation Hum. Mol. Genet., April 15, 2004; 13(8): 819 - 828. [Abstract] [Full Text] [PDF] |
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J.-C. Carel, N. Lahlou, M. Roger, and J. L. Chaussain Precocious puberty and statural growth Hum. Reprod. Update, March 1, 2004; 10(2): 135 - 147. [Abstract] [Full Text] [PDF] |
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M. Bastepe and H. Juppner Pseudohypoparathyroidism and Mechanisms of Resistance toward Multiple Hormones: Molecular Evidence to Clinical Presentation J. Clin. Endocrinol. Metab., September 1, 2003; 88(9): 4055 - 4058. [Full Text] [PDF] |
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E. L. Germain-Lee, J. Groman, J. L. Crane, S. M. Jan de Beur, and M. A. Levine Growth Hormone Deficiency in Pseudohypoparathyroidism Type 1a: Another Manifestation of Multihormone Resistance J. Clin. Endocrinol. Metab., September 1, 2003; 88(9): 4059 - 4069. [Abstract] [Full Text] [PDF] |
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G. Mantovani, M. Maghnie, G. Weber, E. De Menis, V. Brunelli, M. Cappa, P. Loli, P. Beck-Peccoz, and A. Spada Growth Hormone-Releasing Hormone Resistance in Pseudohypoparathyroidism Type Ia: New Evidence for Imprinting of the Gs{alpha} Gene J. Clin. Endocrinol. Metab., September 1, 2003; 88(9): 4070 - 4074. [Abstract] [Full Text] [PDF] |
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J. Liu, B. Erlichman, and L. S. Weinstein The Stimulatory G Protein {alpha}-Subunit Gs{alpha} Is Imprinted in Human Thyroid Glands: Implications for Thyroid Function in Pseudohypoparathyroidism Types 1A and 1B J. Clin. Endocrinol. Metab., September 1, 2003; 88(9): 4336 - 4341. [Abstract] [Full Text] [PDF] |
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C. Coombes, P. Arnaud, E. Gordon, W. Dean, E. A. Coar, C. M. Williamson, R. Feil, J. Peters, and G. Kelsey Epigenetic Properties and Identification of an Imprint Mark in the Nesp-Gnasxl Domain of the Mouse Gnas Imprinted Locus Mol. Cell. Biol., August 15, 2003; 23(16): 5475 - 5488. [Abstract] [Full Text] [PDF] |
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M. Demura, Y. Takeda, T. Yoneda, K. Furukawa, A. Tachi, and H. Mabuchi Completely Skewed X-Inactivation in a Mentally Retarded Young Female with Pseudohypoparathyroidism Type IB and Juvenile Renin-Dependent Hypertension J. Clin. Endocrinol. Metab., July 1, 2003; 88(7): 3043 - 3049. [Abstract] [Full Text] [PDF] |
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F Sandrini, L S Kirschner, T Bei, C Farmakidis, J Yasufuku-Takano, K Takano, T R Prezant, S J Marx, W E Farrell, R N Clayton, et al. PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex J. Med. Genet., December 1, 2002; 39(12): e78 - 78. [Full Text] [PDF] |
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K. Freson, C. Thys, C. Wittevrongel, W. Proesmans, M. F. Hoylaerts, J. Vermylen, and C. Van Geet Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gs{alpha} deficiency in platelets Hum. Mol. Genet., October 15, 2002; 11(22): 2741 - 2750. [Abstract] [Full Text] [PDF] |
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M. Bastepe, Y. Gunes, B. Perez-Villamil, J. Hunzelman, L. S. Weinstein, and H. Juppner Receptor-Mediated Adenylyl Cyclase Activation Through XL{alpha}s, the Extra-Large Variant of the Stimulatory G Protein {alpha}-Subunit Mol. Endocrinol., August 1, 2002; 16(8): 1912 - 1919. [Abstract] [Full Text] [PDF] |
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S. F. Steinberg Focus on "Targeted expression of activated Q227L Galpha s in vivo" Am J Physiol Cell Physiol, August 1, 2002; 283(2): C383 - C385. [Full Text] [PDF] |
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P. Kopp Perspective: Genetic Defects in the Etiology of Congenital Hypothyroidism Endocrinology, June 1, 2002; 143(6): 2019 - 2024. [Abstract] [Full Text] [PDF] |
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H. Juppner The Genetic Basis of Progressive Osseous Heteroplasia N. Engl. J. Med., January 10, 2002; 346(2): 128 - 130. [Full Text] [PDF] |
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L. S. Weinstein The Stimulatory G Protein {alpha}-Subunit Gene: Mutations and Imprinting Lead to Complex Phenotypes J. Clin. Endocrinol. Metab., October 1, 2001; 86(10): 4622 - 4626. [Full Text] [PDF] |
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