GNAS

Summary

Gene Symbol: GNAS
Description: GNAS complex locus
Alias: AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, POH, SCG6, SgVI, protein ALEX, protein GNAS, protein SCG6 (secretogranin VI), G protein subunit alpha S, adenylate cyclase-stimulating G alpha protein, alternative gene product encoded by XL-exon, extra large alphas protein, guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1, guanine nucleotide regulatory protein, guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas, neuroendocrine secretory protein, secretogranin VI
Species: human

Top Publications

  1. pmc Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome
    W F Schwindinger
    Division of Endocrinology and Metabolism, Johns Hopkins University School of Medicine, Baltimore, MD 21205
    Proc Natl Acad Sci U S A 89:5152-6. 1992
  2. doi A novel promoter polymorphism in the human gene GNAS affects binding of transcription factor upstream stimulatory factor 1, Galphas protein expression and body weight regulation
    Ulrich H Frey
    Institute of Pharmacogenetics, Department of Anesthesiology and Intensive Care Medicine, University Hospital, Essen, Germany
    Pharmacogenet Genomics 18:141-51. 2008
  3. ncbi Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
    Jie Liu
    Metabolic Diseases Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 14:95-102. 2005
  4. pmc NESP55, a novel chromogranin-like peptide, is expressed in endocrine tumours of the pancreas and adrenal medulla but not in ileal carcinoids
    A M Jakobsen
    Lundberg Laboratory for Cancer Research, Department of Pathology, Sahlgrenska University Hospital, SE 413 45 Goteborg, Sweden
    Br J Cancer 88:1746-54. 2003
  5. ncbi Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas
    Agnes Linglart
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, 02114, USA
    Endocrinology 147:2253-62. 2006
  6. ncbi GNAS1 T393C polymorphism and survival in patients with sporadic colorectal cancer
    Ulrich H Frey
    Institute of Pharmacology, University Hospital of Essen, Essen, Germany
    Clin Cancer Res 11:5071-7. 2005
  7. pmc The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
    B E Hayward
    Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    Proc Natl Acad Sci U S A 95:10038-43. 1998
  8. ncbi GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours
    C A Landis
    Department of Pharmacology, University of California, San Francisco 94143
    Nature 340:692-6. 1989
  9. ncbi Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity
    R Ischia
    Department of Pharmacology, University of Innsbruck, A 6020 Innsbruck, Austria
    J Biol Chem 272:11657-62. 1997
  10. ncbi A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism
    D R Warner
    Laboratory of Molecular and Cellular Neurobiology, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Endocrinol 11:1718-27. 1997

Research Grants

  1. Role of Gsalpha in Regulating Osteoblast Differentiation
    JOY Y WU; Fiscal Year: 2012
  2. Harald W Jueppner; Fiscal Year: 2016
  3. Phase 2 of Growth Hormone for Treatment of Albright Hereditary Osteodystrophy
    Emily L Germain-Lee; Fiscal Year: 2013
  4. MOLECULAR DEFINITION OF PSEUDOHYPOPARATHYROIDISM
    Harald W Jueppner; Fiscal Year: 2012
  5. Dental outcomes in Fibrous Dysplasia/McCune Albright Syndrome
    Sunday O Akintoye; Fiscal Year: 2013
  6. CLONING OF THE PSEUDOHYPOPARATHYROIDISM TYPE 1B GENE
    Michael Levine; Fiscal Year: 2003
  7. Roles of Gs Alpha and interaction with Wnt signaling in regulation of adipocyte d
    Partha S Sinha; Fiscal Year: 2011
  8. Jenny T Mao; Fiscal Year: 2015
  9. Pancreatic Cancer Management by Novel Gene Therapy &Dietary Agents
    Paul B Fisher; Fiscal Year: 2012
  10. Eva E Redei; Fiscal Year: 2014

Detail Information

Publications232 found, 100 shown here

  1. pmc Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome
    W F Schwindinger
    Division of Endocrinology and Metabolism, Johns Hopkins University School of Medicine, Baltimore, MD 21205
    Proc Natl Acad Sci U S A 89:5152-6. 1992
    ..Further, these results suggest that the molecular basis of MAS is a postzygotic mutation in Gs alpha that causes constitutive activation of adenylyl cyclase...
  2. doi A novel promoter polymorphism in the human gene GNAS affects binding of transcription factor upstream stimulatory factor 1, Galphas protein expression and body weight regulation
    Ulrich H Frey
    Institute of Pharmacogenetics, Department of Anesthesiology and Intensive Care Medicine, University Hospital, Essen, Germany
    Pharmacogenet Genomics 18:141-51. 2008
    ..The beta-adrenoceptor Galphas protein system plays an important role in heart rate regulation and lipid mobilization suggesting a key role for the stimulatory G protein Galphas in body weight regulation...
  3. ncbi Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
    Jie Liu
    Metabolic Diseases Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 14:95-102. 2005
    Pseudohypoparathyroidism type IB (PHPIB) is associated with abnormal imprinting of GNAS, the gene encoding the heterotrimeric G protein Gsalpha and other alternative products...
  4. pmc NESP55, a novel chromogranin-like peptide, is expressed in endocrine tumours of the pancreas and adrenal medulla but not in ileal carcinoids
    A M Jakobsen
    Lundberg Laboratory for Cancer Research, Department of Pathology, Sahlgrenska University Hospital, SE 413 45 Goteborg, Sweden
    Br J Cancer 88:1746-54. 2003
    b>Neuroendocrine secretory protein 55, NESP55, is an acidic protein belonging to the chromogranin family. The distribution of NESP55 in human tumours is not known...
  5. ncbi Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas
    Agnes Linglart
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, 02114, USA
    Endocrinology 147:2253-62. 2006
    Most loss of function mutations of GNAS identified in different forms of pseudohypoparathyroidism disrupt not only the stimulatory G protein alpha-subunit (Gsalpha), but also its paternally expressed variant, XLalphas...
  6. ncbi GNAS1 T393C polymorphism and survival in patients with sporadic colorectal cancer
    Ulrich H Frey
    Institute of Pharmacology, University Hospital of Essen, Essen, Germany
    Clin Cancer Res 11:5071-7. 2005
    ..We have recently shown an association between the GNAS1 T393C polymorphism and disease progression in patients with bladder cancer with homozygous TT genotypes displaying ..
  7. pmc The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
    B E Hayward
    Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    Proc Natl Acad Sci U S A 95:10038-43. 1998
    The GNAS1 gene encodes the alpha subunit of the G protein Gs, which couples receptor binding by several hormones to activation of adenylate cyclase...
  8. ncbi GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours
    C A Landis
    Department of Pharmacology, University of California, San Francisco 94143
    Nature 340:692-6. 1989
    ..Amino acids substituted in the putative gsp oncogene identify a domain of G protein alpha-chains required for intrinsic ability to hydrolyse GTP...
  9. ncbi Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity
    R Ischia
    Department of Pharmacology, University of Innsbruck, A 6020 Innsbruck, Austria
    J Biol Chem 272:11657-62. 1997
    ..We describe here the molecular characterization of NESP55 (neuroendocrine secretory protein of Mr 55,000), a novel member of the chromogranins...
  10. ncbi A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism
    D R Warner
    Laboratory of Molecular and Cellular Neurobiology, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Endocrinol 11:1718-27. 1997
    ..It is therefore possible that substitution or deletion of this residue may alter guanine nucleotide binding, which could lead to thermolability and impaired function...
  11. ncbi Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy
    D Yu
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 84:3254-9. 1999
    ..cyclase stimulation, and in a number of cases heterozygous loss of function mutations within the Gs alpha gene (GNAS1) have been identified...
  12. ncbi Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties
    M Klemke
    Department of Neurobiology, University of Heidelberg, Im Neuenheimer Feld 364, D 69120 Heidelberg, Germany
    J Biol Chem 275:33633-40. 2000
    ..Our results suggest that in neuroendocrine cells, the two related G proteins, Galphas and XLalphas, exhibit distinct properties with regard to receptor-mediated activation but converge onto the same effector system, adenylyl cyclase...
  13. ncbi The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3
    Suzanne M Jan De Beur
    Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21224, USA
    J Bone Miner Res 18:424-33. 2003
    ..osteodystrophy (AHO) and exhibit resistance to additional hormones because of heterozygous mutations in the GNAS1 gene that lead to a generalized deficiency of the a subunit of Gs, the heterotrimeric G protein that couples ..
  14. ncbi Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Torino, Italy
    J Clin Endocrinol Metab 89:1650-5. 2004
    ..a peculiar phenotype reported in subjects with pseudohypoparathyroidism type Ia (PHP-Ia) caused by mutations in the GNAS gene, which encodes for the alpha-subunit of the stimulatory G protein (Gsalpha)...
  15. ncbi The GNAS1 T393C polymorphism predicts survival in patients with clear cell renal cell carcinoma
    Ulrich H Frey
    Institut für Pharmakogenetik, Universitatsklinikum Essen, Germany
    Clin Cancer Res 12:759-63. 2006
    ..We have recently shown that TT genotypes of the GNAS1 T393C polymorphism display increased transcription of Galphas and a more favorable clinical course in bladder and ..
  16. ncbi The GNAS1 T393C polymorphism is associated with disease progression and survival in chronic lymphocytic leukemia
    Ulrich H Frey
    Institut für Pharmakogenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Clin Cancer Res 12:5686-92. 2006
    ..The TT genotype of the GNAS1 T393C polymorphism is associated with increased Galphas transcript levels and a more favorable clinical course in ..
  17. ncbi Mutations in the Gs alpha gene causing hormone resistance
    Giovanna Mantovani
    Endocrine Unit, Department of Medical Sciences, University of Milan, Fondazione Ospedale Maggiore, Policlinico, Mangiagalli e Regina Elena IRCCS, Via F Sforza, 35, 20122 Milan, Italy
    Best Pract Res Clin Endocrinol Metab 20:501-13. 2006
    ..change of G proteins so far unequivocally associated with endocrine disorders occurs in the Gsalpha gene (GNAS1, guanine nucleotide binding protein alpha stimulating activity polypeptide 1), which activates cyclic AMP (cAMP)-..
  18. pmc GNAS1 T393C polymorphism is associated with clinical course in patients with intrahepatic cholangiocarcinoma
    Klaus J Schmitz
    Institute of Pathology and Neuropathology, University of Duisburg Essen, Essen, Germany
    Neoplasia 9:159-65. 2007
    The GNAS1 locus encodes the Galphas protein, which stimulates the formation of cyclo-adenosinemonophosphate (cAMP). The cAMP pathway mediates pleiotropic effects, including the regulation of apoptosis and proliferation...
  19. doi Prevalence of gsp oncogene in somatotropinomas and clinically non-functioning pituitary adenomas: our experience
    Giselle Fernandes Taboada
    Serviço de Endocrinologia do Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 555 101 Ipanema, Rio de Janeiro 22421 020, Brazil
    Pituitary 12:165-9. 2009
    ..Exons 8 and 9 (including codons 201 and 227, respectively) of the GNAS gene were amplified by polymerase chain reaction (PCR)...
  20. pmc Stimulatory heterotrimeric G protein augments gamma ray-induced apoptosis by up-regulation of Bak expression via CREB and AP-1 in H1299 human lung cancer cells
    Yoon Jung Choi
    Department of Biochemistry and Molecular Biology, Laboratory of Cellular Signaling, Cancer Research Institute, Seoul National University College of Medicine, Seoul 110 799, Korea
    Exp Mol Med 41:592-600. 2009
    ....
  21. doi A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy
    A Klagge
    Department of Internal Medicine, Division of Endocrinology and Nephrology, University of Leipzig, Leipzig, Germany
    Exp Clin Endocrinol Diabetes 118:586-90. 2010
    ..is an inherited disorder and results from heterozygous loss of function mutation within the human G (s)α gene (GNAS1). AHO appears in two phenotypes, that may occur within the same family...
  22. doi Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients
    Giovanna Mantovani
    Unità di Endocrinologia, Padiglione Granelli, Fondazione Ospedale Maggiore Instituto di Ricovero e Cura a Carattere Scientifico, Via Francesco Sforza, 35, 20122 Milano, Italy
    J Clin Endocrinol Metab 95:651-8. 2010
    The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster, respectively...
  23. doi Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans
    M Lebrun
    Department of Genetics and Reproduction, University Hospital Caen, 14033 Caen, France
    J Clin Endocrinol Metab 95:3028-38. 2010
    Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited...
  24. pmc Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells
    Janet L Crane
    Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Clin Transl Sci 2:355-60. 2009
    b>GNAS is a complex gene that through use of alternative first exons encodes signaling proteins Galpha(s) and XLalphas plus neurosecretory protein NESP55...
  25. pmc G-protein alpha-s and -12 subunits are involved in androgen-stimulated PI3K activation and androgen receptor transactivation in prostate cancer cells
    Jianjun Liu
    Department of Urology, The Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong, China
    Prostate 71:1276-86. 2011
    ..In this study, we determined the upstream signals that lead to PI3K/p110beta activation and AR transactivation after androgen stimulation...
  26. doi Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus
    Celia Zazo
    Molecular Genetics Laboratory, Research Unit, Hospital Txagorritxu, Vitoria Gasteiz, Spain
    J Bone Miner Res 26:1864-70. 2011
    ..In PHP-Ia, inactivating mutations of the GNAS gene lead to haploinsufficiency in some tissues with biallelic expression, so in addition to PHP, Albright's ..
  27. pmc Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?
    Eduardo Fernandez-Rebollo
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    J Bone Miner Res 26:1854-63. 2011
    ..dominant pseudohypoparathyroidism type Ib (AD-PHP-Ib) carry maternally inherited microdeletions upstream of GNAS that are associated with loss of methylation restricted to GNAS exon A/B...
  28. doi A novel aspect of GNAS imprinting: higher maternal expression of Gαs in human lymphoblasts, peripheral blood mononuclear cells, mammary adipose tissue, and heart
    Stefanie Klenke
    Institut für Pharmakogenetik, Universität Duisburg Essen and Universitätsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
    Mol Cell Endocrinol 341:63-70. 2011
    The human GNAS gene is imprinted in a tissue-specific manner, being expressed primarily from the maternal allele in pituitary, thyroid, renal proximal tubules, and gonads, but is supposed to be biallelically expressed with an equal ..
  29. doi Frequent GNAS and KRAS mutations in pyloric gland adenoma of the stomach and duodenum
    Akiko Matsubara
    Pathology and Clinical Laboratories, National Cancer Centre Hospital, Tokyo, Japan
    J Pathol 229:579-87. 2013
    ..We analysed the mutations in GNAS, KRAS, BRAF and CTNNB1 and the expressions of mismatch repair (MMR) proteins in 80 gastric and 32 duodenal adenomas ..
  30. doi Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations
    Francesca Marta Elli
    Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Hum Mutat 34:411-6. 2013
    ..parathyroid hormone due to partial deficiency of the α subunit of the stimulatory G protein (Gsα), encoded by the GNAS gene...
  31. pmc Clinicopathological correlates of activating GNAS mutations in intraductal papillary mucinous neoplasm (IPMN) of the pancreas
    Marco Dal Molin
    Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Ann Surg Oncol 20:3802-8. 2013
    ..The recent identification of activating GNAS mutations at codon 201 in IPMNs is a promising target for early detection and therapy...
  32. ncbi A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy
    L S Weinstein
    Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland 20892
    Genomics 13:1319-21. 1992
    Several heterozygous mutations within the gene encoding the alpha-subunit of Gs (GNAS1), the G protein that stimulates adenylyl cyclase, have been previously identified in patients with Albright hereditary osteodystrophy (AHO)...
  33. pmc Differential expression of novel Gs alpha signal transduction protein cDNA species
    A Swaroop
    Department of Ophthalmology, University of Michigan, Kellogg Eye Center, Ann Arbor 48105
    Nucleic Acids Res 19:4725-9. 1991
    ..Differential expression of alternatively spliced Gs alpha species suggests novel signal transducing pathways...
  34. ncbi Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
    L S Weinstein
    Molecular Pathophysiology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892
    N Engl J Med 325:1688-95. 1991
    ..We analyzed DNA from tissues of patients with the McCune-Albright syndrome for the presence of activating mutations of the gene for the alpha subunit of the G protein (Gs alpha) that stimulates cAMP formation...
  35. ncbi Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
    J L Patten
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD
    N Engl J Med 322:1412-9. 1990
    ..We conclude that in at least some patients with Albright's hereditary osteodystrophy, the disease is caused by a single-base substitution in the Gs alpha gene and is thus due to an inherited mutation in a human G protein...
  36. pmc Human cDNA clones for four species of G alpha s signal transduction protein
    P Bray
    Proc Natl Acad Sci U S A 83:8893-7. 1986
    ..S1 nuclease protection experiments revealed at least two forms of alpha s mRNA. A mechanism for generating four species of alpha s mRNA by alternative splicing of precursor RNA is proposed...
  37. pmc Isolation and characterization of the human Gs alpha gene
    T Kozasa
    Institute of Medical Science, University of Tokyo, Japan
    Proc Natl Acad Sci U S A 85:2081-5. 1988
    ..It contains 4 "GC" boxes, but no typical "TATA" or "CAAT" box sequence. In the 5' flanking region, there are several blocks of sequences that are similar to the sequences of the 5' flanking region of the human c-Ki-ras2 gene...
  38. ncbi A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase
    W F Schwindinger
    Division of Endocrinology and Metabolism, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    J Biol Chem 269:25387-91. 1994
    Albright hereditary osteodystrophy (AHO) is an autosomal-dominant disorder characterized by decreased expression of Gs alpha and widespread tissue resistance to hormones that activate adenylyl cyclase...
  39. ncbi XL alpha s is a new type of G protein
    R H Kehlenbach
    Institute for Neurobiology, University of Heidelberg, Germany
    Nature 372:804-9. 1994
    ..Hence, XL alpha s may mediate the effects of cholera toxin on secretory vesicle formation...
  40. ncbi Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function
    T Iiri
    Department of Pharmacology, University of California, San Francisco 94143 0450
    Nature 371:164-8. 1994
    ..In vitro experiments indicate that accelerated release of GDP causes both the constitutive activity and the thermolability of alpha s-A366S...
  41. ncbi Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors
    M C Fragoso
    Division of Endocrinology, Hospital das Clinicas, Sao Paulo University School of Medicine, Brazil
    J Clin Endocrinol Metab 83:2074-8. 1998
    ..Other activating mutations of the alpha-subunit of the Gs (gsp) have been identified in GH-secreting and nonfunctioning pituitary tumors, autonomous thyroid adenomas, and all ..
  42. ncbi A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation
    D R Warner
    Membrane Biochemistry Section, Laboratory of Molecular and Cellular Neurobiology, NINDS, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 273:23976-83. 1998
    Albright hereditary osteodystrophy (AHO), a disorder characterized by skeletal abnormalities and obesity, is associated with heterozygous inactivating mutations in the gene for Gsalpha...
  43. pmc Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
    B E Hayward
    Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    Proc Natl Acad Sci U S A 95:15475-80. 1998
    ..The more 5' of these exons encodes the neuroendocrine secretory protein NESP55, which is expressed exclusively from the maternal allele...
  44. ncbi Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein
    U Weiss
    Department of Pharmacology, University of Innsbruck, Austria
    Neuroendocrinology 71:177-86. 2000
    ..This locus encoded for the Neuroendocrine Secretory Protein with an apparent molecular weight of 55,000 (NESP55), which is transcribed exclusively from the ..
  45. ncbi An imprinted antisense transcript at the human GNAS1 locus
    B E Hayward
    Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James s University Hospital, Leeds LS9 7TF, UK
    Hum Mol Genet 9:835-41. 2000
    ..The most 5' of these is maternally expressed, and encodes neuroendocrine secretory protein 55 (NESP55), whose coding region does not overlap with that of G(s)alpha...
  46. pmc Two overlapping reading frames in a single exon encode interacting proteins--a novel way of gene usage
    M Klemke
    Department of Neurobiology, Interdisciplinary Centre of Neuroscience, University of Heidelberg, Im Neuenheimer Feld 364, D 69120 Heidelberg, Germany
    EMBO J 20:3849-60. 2001
    ..Remarkably, ALEX binds to the XL-domain of XLalphas. Our results reveal a mechanism of gene usage that is without precedent in mammalian genomes...
  47. ncbi Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding
    K Freson
    Center for Molecular and Vascular Biology, University Hospital Gasthuisberg, University of Leuven, Belgium
    Thromb Haemost 86:733-8. 2001
    Alternatively spliced GNAS1 and XL-GNAS1, encoding respectively the stimulatory G-protein alpha-subunit (Gsalpha) and the extra-large stimulatory G-protein alpha-subunit (XLsalpha), are located on the imprinted chromosomal region 20q13...
  48. ncbi Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
    Eileen M Shore
    Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia 19104 6018, USA
    N Engl J Med 346:99-106. 2002
    ..AHO is caused by heterozygous inactivating mutations in the GNAS1 gene that result in decreased expression or function of the alpha subunit of the stimulatory G protein (Gsalpha) ..
  49. ncbi Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
    Emily L Germain-Lee
    Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Park Building, Suite 211, 600 N Wolfe Street, Baltimore, 21287 2520, MD, USA
    Biochem Biophys Res Commun 296:67-72. 2002
    Albright hereditary osteodystrophy (AHO) is characterized by multiple somatic defects secondary to mutations in the GNAS1 gene. AHO patients with mutations on maternally inherited alleles are resistant to multiple hormones (e.g...
  50. ncbi The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads
    Giovanna Mantovani
    Institute of Endocrine Sciences University of Milan, Ospedale Maggiore IRCCS, Milan
    J Clin Endocrinol Metab 87:4736-40. 2002
    ..The parental origin of Gs alpha was assessed by evaluating neuroendocrine secretory protein 55 and extra large alphas-like protein transcripts, which have been shown to be monoallelically and ..
  51. ncbi Progressive osseous heteroplasia in the face of a child
    Russell A Faust
    Department of Otolaryngology and Pediatrics, Children s Hospital of Michigan, Detroit, 48201, USA
    Am J Med Genet A 118:71-5. 2003
    ..Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia.
  52. ncbi A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy
    Joachim Pohlenz
    Children s Hospital, Johannes Gutenberg University, Langenbeckstrasse 1, D 55101 Mainz, Germany
    Eur J Endocrinol 148:463-8. 2003
    ..To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine...
  53. ncbi Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation
    Kathleen Freson
    Center of Molecular and Vascular Biology and Department of Pediatrics, University Hospital Gasthuisberg, University of Leuven, Leuven, Belgium
    Hum Mol Genet 12:1121-30. 2003
    ..Both phenomena contribute to increased Gs signaling in patients with platelet hypersensitivity towards Gs-agonists and may be accompanied by neurological problems or growth deficiency...
  54. ncbi Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene
    Giovanna Mantovani
    Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore Instituto di Ricovero e Cura a Carattere Scientifico IRCCS, 20122 Milan, Italy
    J Clin Endocrinol Metab 88:4070-4. 2003
    ..In conclusion, we report that in addition to PTH and TSH resistance, patients with PHP Ia display variable degrees of GHRH resistance, consistent with Gs alpha imprinting in human pituitary...
  55. ncbi Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations
    Michael T Collins
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 4320, USA
    J Clin Endocrinol Metab 88:4413-7. 2003
    ..This disorder is caused by sporadic, postzygotic activating mutations in the GNAS1 gene, which codes for the G(s)alpha protein in the cAMP signaling cascade...
  56. pmc Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
    Murat Bastepe
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    J Clin Invest 112:1255-63. 2003
    ..PHP-Ib is thus distinct from PHP-Ia, which is caused by mutations in the GNAS exons encoding the G protein alpha subunit...
  57. ncbi McCune-Albright syndrome associated with pituitary microadenoma: patient report
    Chun Jung Chen
    Department of Pediatrics, Tri Service General Hospital, National Defense Medical Center, Taipei, Taiwan, Republic of China
    J Pediatr Endocrinol Metab 17:365-9. 2004
    ..Ovarian cysts may be detected on pelvic ultrasound. Our patient was also found to have pituitary microadenoma, evidenced by dynamic magnetic resonance imaging...
  58. pmc XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex
    Joel Abramowitz
    Transmembrane Signal Transduction Group, Laboratory of Signal Transduction, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, NC 27709, USA
    Proc Natl Acad Sci U S A 101:8366-71. 2004
    ..XXLb proteins are likely to be found as stable dimers with AlexX. The N-terminally longer proteins may play regulatory roles...
  59. ncbi Complex haplotype structure of the human GNAS gene identifies a recombination hotspot centred on a single nucleotide polymorphism widely used in association studies
    Wanling Yang
    Department of Cell and Molecular Pharmacology, Medical University of South Carolina, Charleston, South Carolina, USA
    Pharmacogenetics 14:741-7. 2004
    ..The haplotype structure of the GNAS locus warrants reevaluation of previous association studies that used marker rs7121 and affects choice of SNP ..
  60. ncbi Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
    Murat Bastepe
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 37:25-7. 2005
    Epigenetic defects in the imprinted GNAS cluster are associated with pseudohypoparathyroidism type Ib...
  61. ncbi The T393C polymorphism of the G alpha s gene (GNAS1) is a novel prognostic marker in bladder cancer
    Ulrich H Frey
    Institut fur Pharmakologie, Universitatsklinikum, Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Cancer Epidemiol Biomarkers Prev 14:871-7. 2005
    The G protein G(alpha)s pathway is linked to proapoptotic signaling in cancer cell lines. To assess the role of the GNAS1 locus encoding G(alpha)s as a genetic factor for disease progression of transitional cell carcinoma (TCC) of the ..
  62. ncbi Prostaglandin E2 promotes colon cancer cell growth through a Gs-axin-beta-catenin signaling axis
    Maria Domenica Castellone
    Oral and Pharyngeal Cancer Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892 4340, USA
    Science 310:1504-10. 2005
    ..These findings may provide a molecular framework for the future evaluation of chemopreventive strategies for colorectal cancer...
  63. ncbi Imprinting the Gnas locus
    A Plagge
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Babraham Research Campus, Cambridge, UK
    Cytogenet Genome Res 113:178-87. 2006
    b>Gnas is an enigmatic and rather complex imprinted gene locus. A single transcription unit encodes three, and possibly more, distinct proteins...
  64. ncbi Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity
    Dominique N Long
    Division of Pediatric Endocrinology, Department of Pediatrics, Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, Maryland 21287, USA
    J Clin Endocrinol Metab 92:1073-9. 2007
    Obesity is a prominent feature of Albright hereditary osteodystrophy (AHO), a disorder caused by heterozygous GNAS mutations that disrupt the stimulatory G protein alpha-subunit Galpha(s)...
  65. ncbi Analysis of GNAS mutations in 60 growth hormone secreting pituitary tumors: correlation with clinical and pathological characteristics and surgical outcome based on highly sensitive GH and IGF-I criteria for remission
    Pamela U Freda
    Department of Medicine, Columbia University College of Physicians and Surgeons, 650 West 168th Street, 9 905, New York, NY, USA
    Pituitary 10:275-82. 2007
    ..pituitary tumor formation are not well understood, mutations in the alpha-subunit of the stimulatory G gene, GNAS, have been identified in up to 40%...
  66. ncbi Absence of GNAS and EGFL6 mutations in common human cancers
    Sung Hak Lee
    Pathology 40:95-7. 2008
  67. doi A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance
    Virginie Mariot
    Pediatric Endocrinology and Institut National de la Santé et de la Recherche Médicale U561, Hopital St Vincent de Paul, 82 avenue Denfert Rochereau, 75014 Paris V University, France
    J Clin Endocrinol Metab 93:661-5. 2008
    ..PHP) type Ia is a rare maternally transmitted disease due to maternal loss-of-function mutations of GNAS, the gene encoding Galphas, the alpha-stimulatory subunit of the G protein...
  68. pmc Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification
    N S Adegbite
    Department of Orthopaedic Surgery, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 146:1788-96. 2008
    ..hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with GNAS inactivation...
  69. doi 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
    F Palos-Paz
    Unidade de Enfermedades Tiroideas e Metabólicas UETeM, Complexo Hospitalario Universitary de Santiago CHUS, University of Santiago de Compostela, Santiago de Compostela, 15705, Spain
    Eur J Endocrinol 159:623-31. 2008
    ..in the TSH receptor (TSHR) gene, and less frequently in the adenylate cyclase-stimulating G alpha protein (GNAS) gene, are well established causes of TA in Europe...
  70. doi Cutaneous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy: clinicopathological and molecular genetic study of 4 cases, including a novel mutation of the GNAS gene
    Denisa Kacerovska
    Sikl s Department of Pathology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic
    Am J Dermatopathol 30:417-24. 2008
    ..One osteoma and the calcifying aponeurotic fibroma-like lesion were analyzed by HUMARA and proved to be clonal. In a family, a novel mutation in the GNAS gene was also identified.
  71. doi GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets
    Kathleen Freson
    Center for Molecular and Vascular Biology, University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    J Clin Endocrinol Metab 93:4851-9. 2008
    b>GNAS is an imprinted region that gives rise to several transcripts, antisense transcripts, and noncoding RNAs, including transcription of RNA encoding the alpha-subunit of the stimulatory G protein (Gsalpha)...
  72. pmc 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
    Eduardo Fernandez-Rebollo
    Endocrinology and Diabetes Research Group, Hospital de Cruces, 48903 Barakaldo, Bizkaia, Spain
    J Clin Endocrinol Metab 95:765-71. 2010
    ..Mutations affecting G(s)alpha coding exons of GNAS and epigenetic alterations in the same gene are associated with PHP-Ia and -Ib, respectively...
  73. doi Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
    Stéphanie Maupetit-Méhouas
    INSERM, Universite Paris Descartes, Hopital Saint Vincent de Paul, France
    J Med Genet 48:55-63. 2011
    ..type Ib (PHP-Ib) is due to epigenetic changes at the imprinted GNAS locus, including loss of methylation at the A/B differentially methylated region (DMR) and sometimes at the XL and AS DMRs and gain of methylation at the NESP DMR.
  74. pmc Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction
    Susanne Thiele
    Department of Pediatrics and Adolescent Medicine, University of Lubeck, Germany
    Hum Mutat 32:653-60. 2011
    Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading to deficiency of the α-subunit of stimulatory G proteins (Gsα) that mediate signal transduction of G protein-coupled receptors via cAMP...
  75. doi Lack of association of the genotype in the GNAS Fok I polymorphism and prostate cancer
    A Eisenhardt
    Praxisklinik Urologie Rhein Ruhr, Mulheim an der Ruhr, Germany Andreas Eisenhardt googlemail com
    Urol Int 87:80-6. 2011
    ..The Gαs subunit has been considered as an apoptosis factor. In this study the role of GNAS T393C genotypes of the GNAS gene encoding Gαs was analyzed for its influence on the development and progression of ..
  76. doi GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation
    Jean Charles Nault
    INSERM, U674, Génomique fonctionnelle des tumeurs solides, Paris, France
    J Hepatol 56:184-91. 2012
    Mosaic G-protein alpha-subunit (GNAS)-activating mutations are responsible for the McCune-Albright (MCA) syndrome...
  77. pmc Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling
    Zun Liu
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    J Biol Chem 286:38558-69. 2011
    Murine models indicate that Gαs and its extra-long variant XLαs, both of which are derived from GNAS, markedly differ regarding their cellular actions, but these differences are unknown...
  78. pmc Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas
    Toru Furukawa
    Institute for Integrated Medical Sciences, Institute of Gastroenterology, Deparment of Surgical Pathology, Tokyo Women s Medical University, Tokyo, Japan
    Sci Rep 1:161. 2011
    ..uncovered somatic mutations in KCNF1, DYNC1H1, PGCP, STAB1, PTPRM, PRPF8, RNASE3, SPHKAP, MLXIPL, VPS13C, PRCC, GNAS, KRAS, RBM10, RNF43, DOCK2, and CENPF...
  79. doi A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib
    Nicolas Richard
    Centre Hospitalier Universitaire CHU de Caen, Department of Genetics, Caen F 14033, France
    J Clin Endocrinol Metab 97:E863-7. 2012
    ..They can be either coding [Gαs, XLαs, and neuroendocrine secretory protein-55 (NESP55)] or nontranslated (A/B and AS). The paternal AS transcript lies antisense to nesp55.
  80. pmc Mutant GNAS detected in duodenal collections of secretin-stimulated pancreatic juice indicates the presence or emergence of pancreatic cysts
    Mitsuro Kanda
    Johns Hopkins Medical Institutions, Department of Pathology, Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, 1550 Orleans Street, Baltimore, MD 21231, USA
    Gut 62:1024-33. 2013
    ..Better approaches are needed to characterise these lesions. In this study we evaluated the utility of detecting mutant DNA in secretin-stimulated pancreatic juice...
  81. pmc GNAS codon 201 mutations are uncommon in intraductal papillary neoplasms of the bile duct
    Hanno Matthaei
    Departments of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA
    HPB (Oxford) 14:677-83. 2012
    Activating point mutations of GNAS at codon 201 have been detected in approximately two thirds of intraductal papillary mucinous neoplasms (IPMNs) of the pancreas...
  82. doi KRAS and GNAS mutations and p53 overexpression in biliary intraepithelial neoplasia and intrahepatic cholangiocarcinomas
    Maylee Hsu
    Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan
    Cancer 119:1669-74. 2013
    ..this study, the authors investigated the status of v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) and GNAS complex locus (GNAS) mutations and tumor protein 53 (p53) overexpression in the stepwise process of ..
  83. pmc Frequent GNAS mutations in low-grade appendiceal mucinous neoplasms
    G Nishikawa
    Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo 104 0045, Japan
    Br J Cancer 108:951-8. 2013
    ..The molecular basis for the development of appendiceal mucinous tumours, which can be a cause of pseudomyxoma peritonei, remains largely unknown...
  84. doi Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism
    Eduardo Fernandez-Rebollo
    Endocrinology and Diabetes Research Group, Hospital Universitario de Cruces, Universidad del Pais Vasco Euskal Herriko Unibertsitatea, 48903 Barakaldo, Spain
    J Clin Endocrinol Metab 98:E996-1006. 2013
    ....
  85. doi Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series
    F M Elli
    Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Via F Sforza 35, 20122 Milano, Italy
    Bone 56:276-80. 2013
    ..Most cases of POH are caused by paternally inherited inactivating mutations of GNAS gene...
  86. pmc Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development
    Nicolas Richard
    Centre Hospitalier Universitaire de Caen, Department of Genetics, Reference Centre for Rare Disorders of Calcium and Phosphorus Metabolism, F 14000 Caen, France
    J Clin Endocrinol Metab 98:E1549-56. 2013
    Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia (POH) when paternally inherited...
  87. pmc Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification
    Jean B Regard
    1 National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA 2
    Nat Med 19:1505-12. 2013
    ..In progressive osseous heteroplasia, a human disease caused by null mutations in GNAS, which encodes Gαs, Hedgehog signaling is upregulated in ectopic osteoblasts and progenitor cells...
  88. pmc The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene
    Serap Turan
    Pediatric Endocrinology, Marmara University School of Medicine Hospital, Istanbul, Turkey
    Horm Res Paediatr 80:229-41. 2013
    b>GNAS is a complex imprinted locus leading to several different gene products that show exclusive monoallelic expression...
  89. pmc GNAS and KRAS mutations are common in intraductal papillary neoplasms of the bile duct
    Motoko Sasaki
    Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan
    PLoS ONE 8:e81706. 2013
    ..Although activating point mutations of GNAS at codon 201 have been detected in approximately two thirds of IPMNs of the pancreas, there have been few studies ..
  90. ncbi Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2----q13.3 in human by in situ hybridization
    M A Levine
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    Genomics 11:478-9. 1991
  91. pmc Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis
    L S Weinstein
    Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 87:8287-90. 1990
    ....
  92. pmc Parental origin of transcription from the human GNAS1 gene
    R Campbell
    Human Genetics Unit, University of Edinburgh, Western General Hospital, UK
    J Med Genet 31:607-14. 1994
    ..hereditary osteodystrophy (AHO) determined by the parent of transmission, suggests that the human Gs alpha gene (GNAS1), in which mutations occur in AHO, may be under imprinted control...
  93. ncbi GNAS1 mutational analysis in pseudohypoparathyroidism
    S F Ahmed
    MRC Molecular Endocrinology Group, Imperial College School of Medicine, Hammersmith Hospital London, UK
    Clin Endocrinol (Oxf) 49:525-31. 1998
    Mutations of the GNAS1 gene, which is located on chromosome 20q13...
  94. ncbi Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b
    H Zheng
    Department of Pediatrics, McGill University, Montreal, Quebec, Canada H3Z 2Z3
    J Clin Endocrinol Metab 86:4627-9. 2001
    ..These data implicate abnormal imprinting of alternative regions within the GNAS1 locus as a more likely cause of pseudohypoparathyroid type 1b.
  95. ncbi Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy
    W Ahrens
    Department of Pediatrics, Medical University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Clin Endocrinol Metab 86:4630-4. 2001
    ..Different inactivating mutations of the gene GNAS1 encoding Gsalpha lead to a reduced Gsalpha protein activity in patients with AHO and pseudohypoparathyroidism type ..
  96. ncbi GNAS1 mutations and progressive osseous heteroplasia
    S Faisal Ahmed
    N Engl J Med 346:1669-71. 2002
  97. pmc Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1
    Suzanne Jan de Beur
    Division of Endocrinology and Metabolism, Department of Medicine, and the Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, MD, 21224, USA
    Am J Hum Genet 73:314-22. 2003
    ..molecular basis of pseudohypoparathyroidism type 1b (PHP type 1b) remains unknown, a defect in imprinting at the GNAS1 locus has been suggested by the consistent finding of paternal-specific patterns of DNA methylation on maternally ..
  98. ncbi GNAS locus and pseudohypoparathyroidism
    Murat Bastepe
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Horm Res 63:65-74. 2005
    ..Most of these PHP forms are caused by defects in GNAS (20q13.3), an imprinted gene locus with multiple transcriptional units...
  99. ncbi Activation of STAT3 by G alpha(s) distinctively requires protein kinase A, JNK, and phosphatidylinositol 3-kinase
    Andrew M F Liu
    Department of Biochemistry, Molecular Neuroscience Center, Biotechnology Research Institute, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China
    J Biol Chem 281:35812-25. 2006
    ..However, unlike the mechanisms employed by Galpha(i) and Galpha(14/16), Galpha(s) distinctively requires protein kinase A, JNK, and phosphatidylinositol 3-kinase for STAT3 activation...
  100. ncbi GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs alpha
    Stefano Michienzi
    Fondazione Parco Scientifico San Raffaele, Rome, Italy
    Hum Mol Genet 16:1921-30. 2007
    Activating mutations of the Gsalpha gene, encoded by the guanine nucleotide-binding protein, alpha stimulating (GNAS) locus located on chromosome 20q13, underlie different clinical phenotypes characterized by skeletal lesions [fibrous ..
  101. ncbi A novel spliced variant of the type 1 corticotropin-releasing hormone receptor with a deletion in the seventh transmembrane domain present in the human pregnant term myometrium and fetal membranes
    D K Grammatopoulos
    Sir Quinton Hazell Molecular Medicine Research Centre, Department of Biological Sciences, University of Warwick, Coventry, United Kingdom
    Mol Endocrinol 13:2189-202. 1999
    ..Furthermore, CRH failed to stimulate inositol trisphosphate production. Coexpression studies between the CRH-R1d or CRH-R1alpha showed that this receptor does not play a role as a dominant negative receptor for CRH...

Research Grants65

  1. Role of Gsalpha in Regulating Osteoblast Differentiation
    JOY Y WU; Fiscal Year: 2012
    ..b>Gsa is a ubiquitously expressed G protein subunit that mediates signaling cascades downstream of a variety of G protein-..
  2. Harald W Jueppner; Fiscal Year: 2016
    ..type Ib (PHP-Ib), which is caused either by maternally inherited microdeletions within or up-stream of GNAS (autosomal dominant PHP-Ib;AD-PHP-Ib), by paternal uniparental isodisomy involving the GNAS locus on chromosome 20q ..
  3. Phase 2 of Growth Hormone for Treatment of Albright Hereditary Osteodystrophy
    Emily L Germain-Lee; Fiscal Year: 2013
    ..Because of tissue-specific imprinting, patients with GNAS mutations on maternally inherited alleles are resistant to multiple G protein-coupled hormones, a variant termed ..
  4. MOLECULAR DEFINITION OF PSEUDOHYPOPARATHYROIDISM
    Harald W Jueppner; Fiscal Year: 2012
    ..For example, PHP type Ia (PHP-Ia), which is caused by maternally inherited GNAS mutations, provided first evidence for the parent-specific silencing of Gsa expression in the proximal renal ..
  5. Dental outcomes in Fibrous Dysplasia/McCune Albright Syndrome
    Sunday O Akintoye; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): McCune-Albright syndrome (MAS), a rare multisystem disorder caused by GNAS1 gene mutation is characterized by polyostotic fibrous dysplasia of bone (FD), endocrine disorders and caf[unreadable]-au-..
  6. CLONING OF THE PSEUDOHYPOPARATHYROIDISM TYPE 1B GENE
    Michael Levine; Fiscal Year: 2003
    ..Two fundamentally different forms of PHP type 1 have been described. In PHP type 1a, mutations in the GNAS1 gene lead to reduced expression or activity of the alpha subunit of the G protein (Gs alpha) that couples ..
  7. Roles of Gs Alpha and interaction with Wnt signaling in regulation of adipocyte d
    Partha S Sinha; Fiscal Year: 2011
    ..Our studies focus on the potential role in this mechanism of Gsa, a heterotrimeric G protein subunit that mediates cyclic AMP-dependent signaling of G protein-coupled receptors ..
  8. Jenny T Mao; Fiscal Year: 2015
    ..A modified PK study will be performed by measuring grape seed proanthocyanidins (GSP) and metabolites in pre- and post-treatment samples...
  9. Pancreatic Cancer Management by Novel Gene Therapy &Dietary Agents
    Paul B Fisher; Fiscal Year: 2012
    ..Recent intriguing preliminary studies show that a dietary monoterpene, perillyl alcohol (POH), facilitates the apoptosis-promoting effects of mda- 7/IL-24 in PC cells...
  10. Eva E Redei; Fiscal Year: 2014
    ..These genes include, the Delta-like (Dlk), type 3 deiodinase (Dio3), G-protein -subunit, Gs (Gnas) and its variants, necdin (Ndn), ubiquitin protein ligase E3A (Ube3a) and RAS protein-specific guanine nucleotide-..
  11. Aging the Central Nervous System and Mobility in Older Adults
    Stephanie A Studenski; Fiscal Year: 2013
    ..findings, discussions, and recommendations to investigators, clinicians, and the public through symposia at the GSA Annual Scientific Meeting, as well as submit coordinated individual papers to a variety of related journals (e.g...
  12. KENNETH R TETER; Fiscal Year: 2016
    ..dissociates from the rest of the toxin, unfolds, and passes through an ER "translocon" pore to reach its cytosolic Gsa target...
  13. Lee E Schechter; Fiscal Year: 2014
    ..The Pax Neuroscience diagnostic biomarker Gsa Sequestration Assay (GSA), measures the localization of Gs[unreadable], a crucial G protein that activates adenylyl ..
  14. L Darryl Quarles; Fiscal Year: 2016
    ..mineralization with FGF23 release as well as integrate the effects of systemic factors, such as the PTH receptor/GNAS pathway, which has context-dependent effects on FGF23 gene transcription in osteoblasts /osteocytes...
  15. Drosophila melanogaster as a model host for Vibrio cholerae
    Paula I Watnick; Fiscal Year: 2010
    ..on cholera toxin expression by the bacterium as well as on the presence of wild-type levels of adenylyl cyclase, Gsa, and Ca2+-activated K+ channels in the fly...
  16. Murat Bastepe; Fiscal Year: 2015
    ..The gene encoding G[unreadable]s (GNAS) also gives rise to XL[unreadable]s, which is expressed in various tissues including osteoblastic and renal cells...
  17. Comparative effectiveness in older cancer patients: age versus health status
    LINDA KROGH HAROOTYAN; Fiscal Year: 2010
    ..PUBLIC HEALTH RELEVANCE: The Gerontological Society of America (GSA) was founded in 1945 and is the oldest and largest international interdisciplinary scientific organization devoted ..
  18. PAOLA DIVIETI PAJEVIC; Fiscal Year: 2015
    ..DMP-1), known to be expressed specifically in osteocytes, to drive the Cre-recombinase in mice in which Exon1 of Gnas is flanked by Lox-P sites...
  19. Eyal Raz; Fiscal Year: 2015
    ..in Th17 differentiation in vivo, we generated ko mice that carry a specific deletion of the stimulatory Ga protein (Gsa) in CD4 T cells (GsaCD4 ko mice)...
  20. Seesandra Venkatappa Rajagopala; Fiscal Year: 2016
    ..The Genomics Scholars Program (GSP) will focus on community college under-represented minority students to prepare them to enter four-year school...
  21. Genetics 2012: Model Organism to Human Cancer
    PAUL WARREN STERNBERG; Fiscal Year: 2012
    ..by applicant): This is an application for support of a conference sponsored by the Genetics Society of America (GSA) entitled "Model Organisms to Human Biology: Cancer Genetics", to be held in Washington, DC on June 17-20, 2012...
  22. Post-Synaptic Mechanisms for Depression and Antidepressants: Studies in Model Sy
    Mark M Rasenick; Fiscal Year: 2010
    ..of C6 glioma cells with a number of chemically diverse antidepressant compounds moves the heterotrimeric G protein Gsa out of lipid rafts and into a closer association with adenylyl cyclase...
  23. Eileen M Shore; Fiscal Year: 2015
    ..We discovered that one of two copies of the GNAS gene is mutated in POH, establishing that inactivating GNAS mutations can alter cell fate to induce bone formation ..
  24. Jordan W Smoller; Fiscal Year: 2016
    ..In a uniquely large neuroimaging resource (the MGH Genomic Superstruct Project, GSP) we have recently identified a neural measure of limbic system integrity (amygdala enlargement and medial ..
  25. Genetics 2010: Model Organisms to Human Biology
    FRED M WINSTON; Fiscal Year: 2010
    ..by applicant): This is an application for support of a conference sponsored by the Genetics Society of America (GSA) entitled "Genetics 2010: Model Organisms to Human Biology", to be held in Boston, MA on June 12-15, 2010...
  26. Attention Disengagement Training for Social Phobia
    Nader Amir; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Generalized Social Phobia (GSP) is characterized by severe social anxiety that leads to functional impairment (Schneider, et al., 1992). The prevalence of GSP is 13.3% (lifetime, Kessler, et al...
  27. NANCY LOUISE MORROW-HOWELL; Fiscal Year: 2014
    ..support for two workshops that will be the first of a series offered by The Gerontological Society of America (GSA) and the John A. Hartford Geriatric Social Work Initiative (HGSWI)...
  28. AUTONOMIC RECEPTOR FUNCTION IN LV HYPERTROPHY & FAILURE
    Dorothy Vatner; Fiscal Year: 1991
    ..in the left ventricular of animals with left ventricular hypertrophy and failure, 2) to examine guanine nucleotide regulatory protein function in left ventricular hypertrophy and failure...
  29. Mark M Rasenick; Fiscal Year: 2015
    ..Post-mortem tissue from depressed- suicides shows just the opposite, with an increased proportion of Gsa ensconsed in lipid rafts...
  30. Donald Small; Fiscal Year: 2016
    ..Research in Pediatric Oncology-Hematology: To continue to make progress in Pediatric Oncology-Hematology (POH), we need to perpetuate the pool of talented and trained POH physician-scientists and PhD scientists who will make ..
  31. EFFECT OF PERTUSSIS TOXIN ON HEMOPOIESIS
    Peter Quesenberry; Fiscal Year: 1991
    ..the same population of cells, evaluating 125I CSF-1 receptor binding and ADP- ribosylation of the guanine nucleotide regulatory protein. We will evaluate whether CSF-1 exerts its effects through linkage to the cyclic AMP or ..
  32. IMMUNOTOXICITY OF ACID ANHYDRIDES IN THE LUNG
    JEAN REGAL; Fiscal Year: 1999
    ..The hypothesis is that TMA-GPSA combines with cytophilic IgG1 and/or non-cytophilic IgG2 Ab in the airspace and/or the circulation to cause ..
  33. REGULATION OF PHOSPHOLIPASE C
    T Harden; Fiscal Year: 1992
    ..As with hormonal regulation of adenylate cyclase, a guanine nucleotide regulatory protein (G-protein) apparently subserves a necessary role in receptor-stimulated activation of ..
  34. Biology of aging sessions at meetings of the Gerontological Society of America
    William Edmund Sonntag; Fiscal Year: 2012
    ..Annual Scientific Meetings organized by the Biological Sciences Section of The Gerontological Society of America (GSA)...
  35. NEUROCHEMISTRY OF GESTATION-PRODUCED ANALGESIA
    Alan R Gintzler; Fiscal Year: 2010
    The antinociception of gestation (GSA) and its hormonal simulation (HSPA) result from the integration of multiple components and requires concomitant activity of dynorphin (Dyn)/K and enkephalin/6 opioid receptor (enk/DOR) spinal ..
  36. Proanthocyanidins: Novel Skin Cancer Preventive Agent
    Santosh Katiyar; Fiscal Year: 2006
    ..In preliminary studies, we observed that dietary feeding of procyanidins isolated from grape seeds (GSP) resulted in significant prevention of photocarcinogenesis in animal model...
  37. 5-Aminolevulinate Synthase and Heme Biosynthesis
    Gloria Ferreira; Fiscal Year: 2006
    ..3. The distinct catalytic chemistries of ALAS and glutamate l-semialdehyde aminomutase (GSA-AT), two PLP-dependent enzymes which both produce 5-aminolevulinate (ALA) and play crucial roles in the two natural ..
  38. PEGylation of a Glycosulfopeptide Anti-Inflammatory
    ZIAD KAWAR; Fiscal Year: 2004
    ..Subsequently, they found that the critical molecular interactions involved only a small glycosulfopeptide (GSP) region within PSGL-1...
  39. CELLULAR ACTIONS OF THE CATECHOLAMINES
    John Bilezikian; Fiscal Year: 1990
    The investigation seeks to establish definitive evidence for the function of a guanine nucleotide regulatory protein in a pathway of cellular catecholamine action different from that associated with activation or inhibition of adenylate ..
  40. Beta-adrenoceptor genetic polymorphisms and obesity
    Julie Johnson; Fiscal Year: 2002
    ..obesity and genes of the beta1AR (ADRB1), the beta2AR (ADRB2), the beta3AR (ADRB3), the Gs protein alpha subunit (GNAS1) (all three betaARs couple with Gs) and the G protein beta3 subunit (GNB3) (a component of Gi, to which beta3ARs ..
  41. Topical Cyclosporin A for Dermatitis and Psoriasis
    Jonathan Rothbard; Fiscal Year: 2001
    ..This will entail the synthesis and evaluation of a series of GsA-transporter conjugates comprising a set of transporters with a range of tissue penetrating ability...
  42. BIOCHEMISTRY OF OPIOID TOLERANCE: CORD-GANGLIA CULTURE
    MAYNARD MAKMAN; Fiscal Year: 1992
    ..Studies of cross-tolerance may suggest new strategies for intervention during opiate withdrawal and for counteracting tolerance when chronic opiate treatment is needed...
  43. Gs signaling in synaptic development and function
    Michael Forte; Fiscal Year: 2006
    ..of the fact that all receptor-mediated pathways or activation of ACs require the a subunit of the Gs complex (Gsa)...
  44. 3UTR DETERMINANTS IN ANGIOTENSIN II RECEPTOR REGULATION
    Thomas Thekkumkara; Fiscal Year: 2002
    ..Angiotensin II acts on a variety of target tissues through cell surface guanine nucleotide regulatory protein (G-protein) coupled receptors, and while multiple receptor subtypes have been identified, most ..
  45. NETWORK FOR MINORITY AGING RESEARCH IN PSYCHOLOGY
    James Jones; Fiscal Year: 2002
    ..of ongoing public meeting activities at national meetings of the APA and the Gerontological Society of America (GSA)...
  46. Evaluation of Air Samplers with Field Analysis for Lead
    Martin Harper; Fiscal Year: 2001
    ..of Cincinnati), the lOM (Institute of Occupational Medicine) sampler, and the CIS or GSP sampler (BIA, Germany)...
  47. NEUTROPHIL CA++ INFLUX AND PHOSPHOINOSITIDE HYDROLYSIS
    Denis English; Fiscal Year: 1990
    ..Experiments are also designed to investigate the potential role of a F- activated guanine nucleotide regulatory protein in hydrolysis of PIP2...
  48. Public Health Mandate in Healthy and Successful Aging
    Leonard W Poon; Fiscal Year: 2012
    ..A third conference, to be held at a GSA meeting, will employ a previously successful GSA procedure to mentor emerging scholars in the writing of ..
  49. NEUROIMAGING INFORMATICS TOOLS AND RESOURCES CLEARINGHOUSE - PHASE II (GSA CONTR
    David Cassidy; Fiscal Year: 2012
    ..The initial focus of this project was on neuroimaging informatics tools and resources for functional MRI (fMRI) and directly related structural MRI. ..
  50. THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS
    Samuel Refetoff; Fiscal Year: 2005
    ..inherited RTSH, in which the involvement of 5 other candidate genes (TSH receptor, Pax8, TTF-1, TTF-2 and GSa) has been ruled out, will be analyzed by genome-wide screening...
  51. NUCLEOTIDE REGULATORY UNIT OF ADENYLATE CYCLASE
    Michael Levine; Fiscal Year: 2000
    ..chain of G/s that reduce expression or function of G/salpha in patients with Albright hereditary osteodystrophy (AHO), an autosomal dominant syndrome characterized by developmental defects...
  52. FLUOXETINE AND BEHAVIOR THERAPY IN SOCIAL PHOBIA
    Jonathan Davidson; Fiscal Year: 2001
    ..Generalized social phobia (GSP) a chronic and debilitating anxiety disorder affecting over 10 percent of the population and resulting in ..
  53. CONFERENCE ON BIOLOGY OF AGING
    Eugenia Wang; Fiscal Year: 2000
    ..part of the Biological Sciences Section of the year 2000 Annual Meeting of the Gerontological Society of America (GSA), which will be held in Washington, D.C. from November 17-21, 2000. The conference will be organized by Dr...
  54. Restoration of beta-catenin signaling by perillyl alcoh*
    Wen Chi Chang; Fiscal Year: 2005
    ..Preclinical studies have repeatedly documented the antitumor activity of perillyl alcohol (POH) and support its further development as a chemopreventive agent...
  55. MOLECULAR BASIS OF MULTIPLE OPIOID RECEPTORS
    Kwen Jen Chang; Fiscal Year: 2000
    ..receptors and consists of at least three parts: a delta ligand binding protein, a guanine nucleotide regulatory protein (G-protein) that regulates the receptor affinity and serves as a signal transducer, and an ..
  56. ALPHA 1-ADRENERGIC CATECHOLAMINE ACTIONS IN THE HEART
    Susan Steinberg; Fiscal Year: 1992
    The purpose of this investigation is to evaluate the role of a guanine nucleotide regulatory protein (N protein) in alpha 1- adrenergic biochemical and pharmacological responses...
  57. Conference on the Biology of Aging
    Roger McCarter; Fiscal Year: 2002
    ..part of the Biological Sciences Section of the Year 2002 Annual Meeting of the Gerontological Society of America (GSA), which will be held in Boston, Massachusetts from November 22-26, 2002. The conference will be organized by Dr...
  58. Minority Investigator Recruitment,Retention & Careers
    James Jackson; Fiscal Year: 2001
    ..Using the Gerontological Society of America (GSA) preconference format, a workshop is proposed for relatively senior investigators with experience in training ..
  59. MEETING: GENETIC ANALYSIS: MODEL ORGANISMS TO HUMAN BIOLOGY
    H Johnston; Fiscal Year: 2005
    This is an application for support of a new conference sponsored by the Genetics Society of America (GSA) entitled "Genetic analysis: From model organisms to human biology", to be held in San Diego, Jan 5-7, 2006...
  60. Monoterpenes in Cancer Prevention and Therapy
    Timothy Vincent; Fiscal Year: 2005
    ..The prototypical monoterpene Perillyl alcohol (POH) is currently in clinical trials for the treatment of cancers...
  61. MULTILEVEL MECHANISMS OF BIOLOGICAL AGING
    Caleb Finch; Fiscal Year: 1993
    Partial support is requested for presentations at the 1992 annual meeting of the Gerontological Society of America (GSA), the Biological Sciences Section, Nov. 18-22, Washington DC...
  62. Conference on the Biology of Aging
    Steven Austad; Fiscal Year: 2001
    ..part of the Biological Sciences Section of the Year 2001 Annual Meeting of the Gerontological Society of America (GSA), which will be held in Chicago, Illinois from November 16-20, 2001. The conference will be organized by Dr...
  63. MOLECULAR BASIS OF AGING AND LONGEVITY
    Thomas Johnson; Fiscal Year: 1991
    Partial support is requested for the annual meeting of the Gerontological Society of America (GSA) at the Hilton Square in San Francisco, California, November 22-26, 1991...
  64. FUNCTION AND ORGANIZATION OF THE GENICULATE GANGLION
    SUZANNE SOLLARS; Fiscal Year: 2000
    ..research is to study the gustatory response properties and central terminal fields of single taste neurons of the GSP and CT nerves in the rat, nerves that innervate populations of gustatory receptors on the mammalian palate and ..
  65. Dopamine function in social phobia & related conditions
    Franklin Schneier; Fiscal Year: 2006
    ..is to support the continuing development of the applicant as a scientist studying generalized social phobia (GSP) (also known as generalized social anxiety disorder), related traits, behaviors and disorders...