{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:41:47Z","timestamp":1791092507124,"version":"4.1.0"},"reference-count":416,"publisher":"The Endocrine Society","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The heterotrimeric G protein Gs couples hormone receptors (as well as other receptors) to the effector enzyme adenylyl cyclase and is therefore required for hormone-stimulated intracellular cAMP generation. Receptors activate Gs by promoting exchange of GTP for GDP on the Gs \u03b1-subunit (Gs\u03b1) while an intrinsic GTPase activity of Gs\u03b1 that hydrolyzes bound GTP to GDP leads to deactivation. Mutations of specific Gs\u03b1 residues (Arg201 or Gln227) that are critical for the GTPase reaction lead to constitutive activation of Gs-coupled signaling pathways, and such somatic mutations are found in endocrine tumors, fibrous dysplasia of bone, and the McCune-Albright syndrome. Conversely, heterozygous loss-of-function mutations may lead to Albright hereditary osteodystrophy (AHO), a disease characterized by short stature, obesity, brachydactyly, sc ossifications, and mental deficits. Similar mutations are also associated with progressive osseous heteroplasia. Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g., PTH, TSH) that activate Gs in their target tissues (pseudohypoparathyroidism type IA). Studies in Gs\u03b1 knockout mice demonstrate that Gs\u03b1 is imprinted in a tissue-specific manner, being expressed primarily from the maternal allele in some tissues (e.g., renal proximal tubule, the major site of renal PTH action), while being biallelically expressed in most other tissues. Disrupting mutations in the maternal allele lead to loss of Gs\u03b1 expression in proximal tubules and therefore loss of PTH action in the kidney, while mutations in the paternal allele have little effect on Gs\u03b1 expression or PTH action. Gs\u03b1 has recently been shown to be also imprinted in human pituitary glands. The Gs\u03b1 gene GNAS1 (as well as its murine ortholog Gnas) has at least four alternative promoters and first exons, leading to the production of alternative gene products including Gs\u03b1, XL\u03b1s (a novel Gs\u03b1 isoform that is expressed only from the paternal allele), and NESP55 (a chromogranin-like protein that is expressed only from the maternal allele). A fourth alternative promoter and first exon (exon 1A) located approximately 2.5 kb upstream of the Gs\u03b1 promoter is normally methylated on the maternal allele and transcriptionally active on the paternal allele. In patients with isolated renal resistance to PTH (pseudohypoparathyroidism type IB), the exon 1A promoter region has a paternal-specific imprinting pattern on both alleles (unmethylated, transcriptionally active), suggesting that this region is critical for the tissue-specific imprinting of Gs\u03b1. The GNAS1 imprinting defect in pseudohypoparathyroidism type IB is predicted to decrease Gs\u03b1 expression in renal proximal tubules. Studies in Gs\u03b1 knockout mice also demonstrate that this gene is critical in the regulation of lipid and glucose metabolism.<\/jats:p>","DOI":"10.1210\/edrv.22.5.0439","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T18:26:27Z","timestamp":1389205587000},"page":"675-705","source":"Crossref","is-referenced-by-count":45,"title":["Endocrine Manifestations of Stimulatory G Protein \u03b1-Subunit Mutations and the Role of Genomic Imprinting"],"prefix":"10.1210","volume":"22","author":[{"given":"Lee S.","family":"Weinstein","sequence":"first","affiliation":[{"name":"Metabolic Diseases Branch (L.S.W., S.Y., J.L.), National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhua","family":"Yu","sequence":"first","affiliation":[{"name":"Metabolic Diseases Branch (L.S.W., S.Y., J.L.), National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis R.","family":"Warner","sequence":"first","affiliation":[{"name":"Department of Molecular, Cellular, and Craniofacial Biology (D.R.W.), University of Louisville School of Dentistry, Louisville, Kentucky 40202"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Liu","sequence":"first","affiliation":[{"name":"Metabolic Diseases Branch (L.S.W., S.Y., J.L.), National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071612251878400_R1","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1016\/S0021-9258(18)62389-0","article-title":"The glucagon-sensitive adenyl cyclase system in plasma membranes of rat liver. 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hydrolysis.","volume":"265","author":"Coleman","year":"1994","journal-title":"Science"},{"key":"2020071612251878400_R39","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/0092-8674(95)90220-1","article-title":"The structure of the G protein heterotrimer Gi\u03b11\u03b21\u03b32.","volume":"83","author":"Wall","year":"1995","journal-title":"Cell"},{"key":"2020071612251878400_R40","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1126\/science.270.5238.954","article-title":"Tertiary and quaternary structural changes in Gi\u03b11.","volume":"270","author":"Mixon","year":"1995","journal-title":"Science"},{"key":"2020071612251878400_R41","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/379311a0","article-title":"The 2.0A crystal structure of a heterotrimeric G protein.","volume":"379","author":"Lambright","year":"1996","journal-title":"Nature"},{"key":"2020071612251878400_R42","doi-asserted-by":"crossref","first-page":"8893","DOI":"10.1073\/pnas.83.23.8893","article-title":"Human cDNA clones for four species of G\u03b1s signal transduction protein.","volume":"83","author":"Bray","year":"1986","journal-title":"Proc Natl Acad Sci USA"},{"key":"2020071612251878400_R43","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1073\/pnas.85.7.2081","article-title":"Isolation and characterization of the human Gs\u03b1 gene.","volume":"85","author":"Kozasa","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"2020071612251878400_R44","doi-asserted-by":"crossref","first-page":"23976","DOI":"10.1074\/jbc.273.37.23976","article-title":"A novel mutation in the switch 3 region of Gs\u03b1 in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.","volume":"273","author":"Warner","year":"1998","journal-title":"J Biol Chem"},{"key":"2020071612251878400_R45","doi-asserted-by":"crossref","first-page":"21673","DOI":"10.1074\/jbc.272.35.21673","article-title":"Communication between switch II and switch III of the transducin \u03b1 subunit is essential for target activation.","volume":"272","author":"Li","year":"1997","journal-title":"J Biol Chem"},{"key":"2020071612251878400_R46","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/27831","article-title":"G-protein diseases furnish a model for the turn-on switch.","volume":"394","author":"Iiri","year":"1998","journal-title":"Nature"},{"key":"2020071612251878400_R47","doi-asserted-by":"crossref","first-page":"5656","DOI":"10.1073\/pnas.94.11.5656","article-title":"Conditional activation defect of a human Gs\u03b1 mutant.","volume":"94","author":"Iiri","year":"1997","journal-title":"Proc Natl Acad Sci 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Gs\u03b1.","volume":"264","author":"Graziano","year":"1989","journal-title":"J Biol Chem"},{"key":"2020071612251878400_R54","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/0014-5793(87)80486-6","article-title":"Identification of the lesion in the stimulatory GTP-binding protein of the uncoupled S49 lymphoma.","volume":"224","author":"Rall","year":"1987","journal-title":"FEBS Lett"},{"key":"2020071612251878400_R55","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1038\/330758a0","article-title":"Identification of receptor contact site involved in receptor-G protein coupling.","volume":"330","author":"Sullivan","year":"1987","journal-title":"Nature"},{"key":"2020071612251878400_R56","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/S0026-895X(25)09390-3","article-title":"Carboxyl-terminal mutations of Gq\u03b1 and Gs\u03b1 that alter the fidelity of receptor activation.","volume":"50","author":"Conklin","year":"1996","journal-title":"Mol 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The large and small forms of Gs and the olfactory-specific G-protein, Golf.","volume":"265","author":"Jones","year":"1990","journal-title":"J Biol Chem"},{"key":"2020071612251878400_R72","doi-asserted-by":"crossref","first-page":"5109","DOI":"10.1074\/jbc.273.9.5109","article-title":"Different effects of Gs\u03b1 splice variants on \u03b2 2-adrenoreceptor-mediated signaling. 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I. Tissue distribution and subcellular localization.","volume":"275","author":"Pasolli","year":"2000","journal-title":"J Biol Chem"},{"key":"2020071612251878400_R85","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1093\/hmg\/9.5.835","article-title":"An imprinted antisense transcript at the human GNAS1 locus.","volume":"9","author":"Hayward","year":"2000","journal-title":"Hum Mol Genet"},{"key":"2020071612251878400_R86","doi-asserted-by":"crossref","first-page":"3342","DOI":"10.1073\/pnas.97.7.3342","article-title":"An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus.","volume":"97","author":"Wroe","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"2020071612251878400_R87","doi-asserted-by":"crossref","first-page":"4725","DOI":"10.1093\/nar\/19.17.4725","article-title":"Differential expression of novel Gs\u03b1 signal transduction protein cDNA species.","volume":"19","author":"Swaroop","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"2020071612251878400_R88","doi-asserted-by":"crossref","first-page":"8458","DOI":"10.1016\/S0021-9258(19)38910-0","article-title":"Alternative promoter and 5\u2032 exon generate a novel Gs\u03b1 mRNA.","volume":"265","author":"Ishikawa","year":"1990","journal-title":"J Biol Chem"},{"key":"2020071612251878400_R89","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1172\/JCI10431","article-title":"A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.","volume":"106","author":"Liu","year":"2000","journal-title":"J Clin Invest"},{"key":"2020071612251878400_R90","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0304-3940(01)01620-2","article-title":"Expression of the extra-large G protein \u03b1-subunit XL\u03b1s in neuroepithelial cells and young neurons during development of the rat nervous system.","volume":"301","author":"Pasolli","year":"2001","journal-title":"Neurosci Lett"},{"key":"2020071612251878400_R91","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1091\/mbc.11.4.1421","article-title":"A proline-rich region and nearby cysteine residues target XL\u03b1s to the Golgi complex region.","volume":"11","author":"Ugur","year":"2000","journal-title":"Mol Biol Cell"},{"key":"2020071612251878400_R92","doi-asserted-by":"crossref","first-page":"33633","DOI":"10.1074\/jbc.M006594200","article-title":"Characterization of the extra-large G protein \u03b1-subunit XL\u03b1s. II. Signal transduction properties.","volume":"275","author":"Klemke","year":"2000","journal-title":"J Biol Chem"},{"key":"2020071612251878400_R93","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0006-8993(99)01345-1","article-title":"Relative amounts and molecular forms of NESP55 in various bovine tissues.","volume":"829","author":"Lovisetti-Scamiform","year":"1999","journal-title":"Brain Res"},{"key":"2020071612251878400_R94","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0304-3940(99)00091-9","article-title":"The new chromogranin-like protein NESP55 is preferentially localized in adrenaline-synthesizing cells of the bovine and rat adrenal medulla.","volume":"263","author":"Bauer","year":"1999","journal-title":"Neurosci Lett"},{"key":"2020071612251878400_R95","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/S0306-4522(98)00668-X","article-title":"Localization of neuroendocrine secretory protein 55 messenger RNA in the rat 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island.","volume":"389","author":"Wutz","year":"1998","journal-title":"Nature"},{"key":"2020071612251878400_R112","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng0598-25","article-title":"A mouse model for Prader-Willi syndrome imprinting-centre mutations.","volume":"19","author":"Yang","year":"1998","journal-title":"Nat Genet"},{"key":"2020071612251878400_R113","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/5947","article-title":"Cancer epigenetics come of age.","volume":"21","author":"Jones","year":"1999","journal-title":"Nat Genet"},{"key":"2020071612251878400_R114","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/S0168-9525(99)01822-3","article-title":"Genomic imprinting in mammals: an interplay between chromatin and DNA methylation?","volume":"15","author":"Khosla","year":"1999","journal-title":"Trends Genet"},{"key":"2020071612251878400_R115","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/71750","article-title":"DNA methyltransferase Dnmt1 associates with histone deacetylase activity.","volume":"24","author":"Fuks","year":"2000","journal-title":"Nat Genet"},{"key":"2020071612251878400_R116","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/77124","article-title":"DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promoters.","volume":"25","author":"Robertson","year":"2000","journal-title":"Nat Genet"},{"key":"2020071612251878400_R117","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/35013100","article-title":"Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene.","volume":"405","author":"Bell","year":"2000","journal-title":"Nature"},{"key":"2020071612251878400_R118","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1038\/35013106","article-title":"CTCF mediates methylation-sensitive enhancer-blocking activity at the H19\/Igf2 locus.","volume":"405","author":"Hark","year":"2000","journal-title":"Nature"},{"key":"2020071612251878400_R119","doi-asserted-by":"crossref","first-page":"1997","DOI":"10.1101\/gad.14.16.1997","article-title":"The Dlk1 and Gtl2 genes are linked and reciprocally imprinted.","volume":"14","author":"Schmidt","year":"2000","journal-title":"Genes Dev"},{"key":"2020071612251878400_R120","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1101\/gr.161600","article-title":"Novel imprinted DLK1\/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2\/H19 regulation.","volume":"10","author":"Wylie","year":"2000","journal-title":"Genome Res"},{"key":"2020071612251878400_R121","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/ng0598-15","article-title":"An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript.","volume":"19","author":"Rougeulle","year":"1998","journal-title":"Nat 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acromegaly","volume":"107","author":"Hayward","year":"2001","journal-title":"J Clin Invest"},{"key":"2020071612251878400_R128","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1172\/JCI8437","article-title":"Paternal vs. maternal transmission of a stimulatory G protein \u03b1 subunit knockout produces opposite effects on energy metabolism.","volume":"105","author":"Yu","year":"2000","journal-title":"J Clin Invest"},{"key":"2020071612251878400_R129","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s004390000344","article-title":"Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13.","volume":"107","author":"Bonthron","year":"2000","journal-title":"Hum Genet"},{"key":"2020071612251878400_R130","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1006\/geno.1995.1192","article-title":"Chromosomal localization, embryonic expression, and imprinting tests for Bmp7 on distal mouse chromosome 2.","volume":"28","author":"Marker","year":"1995","journal-title":"Genomics"},{"key":"2020071612251878400_R131","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1017\/S0016672300033103","article-title":"Thirteen genes (Cebpb, Erf1, Tcf4, Cyp24, Pck1, Acra4, Edn3, Kcnb1, Mc3r, Ntsr, Cd40, Plcg1, and Rcad) that probably lie in the distal imprinting region of mouse chromosome 2 are not monoallelically expressed.","volume":"65","author":"Williamson","year":"1995","journal-title":"Genet Res"},{"key":"2020071612251878400_R132","first-page":"70","article-title":"GTPase-inhibiting mutations in the \u03b1 subunit of Gs.","volume":"24","author":"Masters","year":"1990","journal-title":"Adv Second Messenger Phosphoprotein Res"},{"key":"2020071612251878400_R133","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/330566a0","article-title":"Altered Gs and adenylate cyclase activity in human GH-secreting pituitary 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pseudohypoparathyroidism type I. 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osteodystrophy.","volume":"13","author":"Weinstein","year":"1992","journal-title":"Genomics"},{"key":"2020071612251878400_R342","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1006\/geno.1994.1297","article-title":"Characterization of a de novo 43-bp deletion of the Gs\u03b1 gene (GNAS1) in Albright hereditary osteodystrophy.","volume":"21","author":"Oude Luttikhuis","year":"1994","journal-title":"Genomics"},{"key":"2020071612251878400_R343","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1136\/jmg.31.11.835","article-title":"Parental origin of Gs\u03b1 gene mutations in Albright\u2019s hereditary osteodystrophy.","volume":"31","author":"Wilson","year":"1994","journal-title":"J Med Genet"},{"key":"2020071612251878400_R344","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1093\/hmg\/4.10.2001","article-title":"A deletion hot-spot in exon 7 of the Gs\u03b1 gene (GNAS1) in patients with Albright hereditary osteodystrophy.","volume":"4","author":"Yu","year":"1995","journal-title":"Hum Mol Genet"},{"key":"2020071612251878400_R345","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/371164a0","article-title":"Rapid GDP release from Gs-\u03b1 in patients with gain and loss of endocrine function.","volume":"371","author":"Iiri","year":"1994","journal-title":"Nature"},{"key":"2020071612251878400_R346","doi-asserted-by":"crossref","first-page":"19653","DOI":"10.1074\/jbc.271.33.19653","article-title":"Pseudohypoparathyroidism: a novel mutation in the \u03b2\u03b3 contact region of Gs\u03b1 impairs receptor stimulation.","volume":"271","author":"Farfel","year":"1996","journal-title":"J Biol Chem"},{"key":"2020071612251878400_R347","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1046\/j.1365-2265.1997.1100922.x-i1","article-title":"GNAS1 mutational analysis in pseudohypoparathyroidism.","volume":"49","author":"Ahmed","year":"1998","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071612251878400_R348","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/BF00218836","article-title":"Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs \u03b1 gene.","volume":"97","author":"Shapira","year":"1996","journal-title":"Hum Genet"},{"key":"2020071612251878400_R349","first-page":"935","article-title":"An inherited mutation associated with functional deficiency of the\u03b1 -subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism.","volume":"83","author":"Fischer","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071612251878400_R350","first-page":"1718","article-title":"A novel mutation adjacent to the switch III domain of Gs\u03b1 in a patient with pseudohypoparathyroidism.","volume":"11","author":"Warner","year":"1997","journal-title":"Mol 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Effects of isoprenaline.","volume":"274","author":"Klein","year":"1991","journal-title":"Biochem J"},{"key":"2020071612251878400_R397","first-page":"E7","article-title":"Effect of in vivo injection of cholera and pertussis toxin on glucose transport in rat skeletal muscle","volume":"272","author":"Ploug","year":"1997","journal-title":"Am J Physiol"},{"key":"2020071612251878400_R398","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/BF00274578","article-title":"Catecholamines and tumour promoting phorbolesters inhibit insulin receptor kinase and induce insulin resistance in isolated human adipocytes.","volume":"30","author":"Obermaier","year":"1987","journal-title":"Diabetologia"},{"key":"2020071612251878400_R399","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1042\/bj2340059","article-title":"Decreased tyrosine kinase activity of insulin receptor isolated from rat adipocytes rendered insulin-resistant by catecholamine treatment in vitro.","volume":"234","author":"Haring","year":"1986","journal-title":"Biochem J"},{"key":"2020071612251878400_R400","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1042\/bj2450019","article-title":"Effect of cyclic AMP-dependent protein kinase on insulin receptor tyrosine kinase activity.","volume":"245","author":"Tanti","year":"1987","journal-title":"Biochem J"},{"key":"2020071612251878400_R401","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1042\/bj3430571","article-title":"GLUT4 trafficking in insulin-stimulated rat adipose cells: evidence that heterotrimeric GTP-binding proteins regulate the fusion of docked GLUT4-containing vesicles.","volume":"343","author":"Ferrara","year":"1999","journal-title":"Biochem J"},{"key":"2020071612251878400_R402","doi-asserted-by":"crossref","first-page":"11798","DOI":"10.1073\/pnas.95.20.11798","article-title":"The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds 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