{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:41:51Z","timestamp":1791092511170,"version":"4.1.0"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,1,1]]},"DOI":"10.1093\/hmg\/ddi009","type":"journal-article","created":{"date-parts":[[2004,11,11]],"date-time":"2004-11-11T01:14:10Z","timestamp":1100135650000},"page":"95-102","source":"Crossref","is-referenced-by-count":109,"title":["Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB"],"prefix":"10.1093","volume":"14","author":[{"given":"Jie","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie G.","family":"Nealon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee S.","family":"Weinstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2004,11,10]]},"reference":[{"key":"key\n\t\t\t\t20171011121724_DDI009C1","doi-asserted-by":"crossref","unstructured":"Weinstein, L.S., Yu, S., Warner, D.R. and Liu, J. ( 2001 ) Endocrine manifestations of stimulatory G protein \u03b1-subunit mutations and the role of genomic imprinting. Endocr. Rev. , 22 , 675 \u2013705.","DOI":"10.1210\/edrv.22.5.0439"},{"key":"key\n\t\t\t\t20171011121724_DDI009C2","doi-asserted-by":"crossref","unstructured":"Davies, S.J. and Hughes, H.E. ( 1993 ) Imprinting in Albright's hereditary osteodystrophy. J. Med. Genet. , 30 , 101 \u2013103.","DOI":"10.1136\/jmg.30.2.101"},{"key":"key\n\t\t\t\t20171011121724_DDI009C3","doi-asserted-by":"crossref","unstructured":"Weinstein, L.S. ( 2001 ) Editorial: the stimulatory G protein \u03b1-subunit gene: mutations and imprinting lead to complex phenotypes. J. Clin. Endocrinol. Metab. , 86 , 4622 \u20134626.","DOI":"10.1300\/J026v18n03_01"},{"key":"key\n\t\t\t\t20171011121724_DDI009C4","doi-asserted-by":"crossref","unstructured":"Yu, S., Yu, D., Lee, E., Eckhaus, M., Lee, R., Corria, Z., Accili, D., Westphal, H. and Weinstein, L.S. ( 1998 ) Variable and tissue-specific hormone resistance in heterotrimeric G s protein \u03b1-subunit (G s \u03b1) knockout mice is due to tissue-specific imprinting of the G s \u03b1 gene. Proc. Natl Acad. Sci. USA , 95 , 8715 \u20138720.","DOI":"10.1073\/pnas.95.15.8715"},{"key":"key\n\t\t\t\t20171011121724_DDI009C5","doi-asserted-by":"crossref","unstructured":"Hayward, B.E., Barlier, A., Korbonits, M., Grossman, A.B., Jacquet, P., Enjalbert, A. and Bonthron, D.T. ( 2001 ) Imprinting of the G s \u03b1 gene GNAS1 in the pathogenesis of acromegaly. J. Clin. Invest. , 107 , R31 \u2013R36.","DOI":"10.1172\/JCI11887"},{"key":"key\n\t\t\t\t20171011121724_DDI009C6","doi-asserted-by":"crossref","unstructured":"Mantovani, G., Ballare, E., Giammona, E., Beck-Peccoz, P. and Spada, A. ( 2002 ) The Gs\u03b1 gene: predominant maternal origin of transcription in human thyroid gland and gonads. J. Clin. Endocrinol. Metab. , 87 , 4736 \u20134740.","DOI":"10.1210\/jc.2002-020183"},{"key":"key\n\t\t\t\t20171011121724_DDI009C7","doi-asserted-by":"crossref","unstructured":"Germain-Lee, E.L., Ding, C.-L., Deng, Z., Crane, J.L., Saji, M., Ringel, M.D. and Levine, M.A. ( 2002 ) Paternal imprinting of G\u03b1s in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem. Biophys. Res. Commun. , 296 , 67 \u201372.","DOI":"10.1016\/S0006-291X(02)00833-1"},{"key":"key\n\t\t\t\t20171011121724_DDI009C8","doi-asserted-by":"crossref","unstructured":"Liu, J., Erlichman, B. and Weinstein, L.S. ( 2003 ) The stimulatory G protein \u03b1-subunit G s \u03b1 is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J. Clin. Endocrinol. Metab. , 88 , 4336 \u20134341.","DOI":"10.1210\/jc.2003-030393"},{"key":"key\n\t\t\t\t20171011121724_DDI009C9","doi-asserted-by":"crossref","unstructured":"Sakamoto, A., Liu, J., Greene, A., Chen, M. and Weinstein, L.S. ( 2004 ) Tissue-specific imprinting of the G protein G s \u03b1 is associated with tissue-specific differences in histone methylation. Hum. Mol. Genet. , 13 , 819 \u2013828.","DOI":"10.1093\/hmg\/ddh098"},{"key":"key\n\t\t\t\t20171011121724_DDI009C10","doi-asserted-by":"crossref","unstructured":"Hayward, B.E., Kamiya, M., Strain, L., Moran, V., Campbell, R., Hayashizaki, Y. and Bonthron, D.T. ( 1998 ) The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc. Natl Acad. Sci. USA , 95 , 10038 \u201310043.","DOI":"10.1073\/pnas.95.17.10038"},{"key":"key\n\t\t\t\t20171011121724_DDI009C11","doi-asserted-by":"crossref","unstructured":"Hayward, B.E., Moran, V., Strain, L. and Bonthron, D.T. ( 1998 ) Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc. Natl Acad. Sci. USA , 95 , 15475 \u201315480.","DOI":"10.1073\/pnas.95.26.15475"},{"key":"key\n\t\t\t\t20171011121724_DDI009C12","doi-asserted-by":"crossref","unstructured":"Peters, J., Wroe, S.F., Wells, C.A., Miller, H.J., Bodle, D., Beechey, C.V., Williamson, C.M. and Kelsey, G. ( 1999 ) A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc. Natl Acad. Sci. USA , 96 , 3830 \u20133835.","DOI":"10.1073\/pnas.96.7.3830"},{"key":"key\n\t\t\t\t20171011121724_DDI009C13","doi-asserted-by":"crossref","unstructured":"Wroe, S.F., Kelsey, G., Skinner, J.A., Bodle, D., Ball, S.T., Beechey, C.V., Peters, J. and Williamson, C.M. ( 2000 ) An imprinted transcript, antisense to Nesp , adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc. Natl Acad. Sci. USA , 97 , 3342 \u20133346.","DOI":"10.1073\/pnas.97.7.3342"},{"key":"key\n\t\t\t\t20171011121724_DDI009C14","doi-asserted-by":"crossref","unstructured":"Hayward, B.E. and Bonthron, D.T. ( 2000 ) An imprinted antisense transcript at the human GNAS1 locus. Hum. Mol. Genet. , 9 , 835 \u2013841.","DOI":"10.1093\/hmg\/9.5.835"},{"key":"key\n\t\t\t\t20171011121724_DDI009C15","doi-asserted-by":"crossref","unstructured":"Li, T., Vu, T.H., Zeng, Z.L., Nguyen, B.T., Hayward, B.E., Bonthron, D.T., Hu, J.F. and Hoffman, A.R. ( 2000 ) Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus. Genomics69 , 295 \u2013304.","DOI":"10.1006\/geno.2000.6337"},{"key":"key\n\t\t\t\t20171011121724_DDI009C16","doi-asserted-by":"crossref","unstructured":"Williamson, C.M., Skinner, J.A., Kelsey, G. and Peters, J. ( 2002 ) Alternative non-coding splice variants of Nespas , an imprinted gene antisense to Nesp in the Gnas imprinting cluster. Mamm. Genome , 13 , 74 \u201379.","DOI":"10.1007\/s00335-001-2102-2"},{"key":"key\n\t\t\t\t20171011121724_DDI009C17","doi-asserted-by":"crossref","unstructured":"Liu, J., Litman, D., Rosenberg, M.J., Yu, S., Biesecker, L.G. and Weinstein, L.S. ( 2000 ) A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J. Clin. Invest. , 106 , 1167 \u20131174.","DOI":"10.1172\/JCI10431"},{"key":"key\n\t\t\t\t20171011121724_DDI009C18","doi-asserted-by":"crossref","unstructured":"Liu, J., Yu, S., Litman, D., Chen, W. and Weinstein, L.S. ( 2000 ) Identification of a methylation imprint mark within the mouse Gnas locus. Mol. Cell. Biol. , 20 , 5808 \u20135817.","DOI":"10.1128\/MCB.20.16.5808-5817.2000"},{"key":"key\n\t\t\t\t20171011121724_DDI009C19","doi-asserted-by":"crossref","unstructured":"Williamson, C.M., Ball, S.T., Nottingham, W.T., Skinner, J.A., Plagge, A., Turner, M.D., Powles, N., Hough, T., Papworth, D., Fraser, W.D. et\u00a0al. ( 2004 ) A cis -acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat. Genet. , 36 , 894 \u2013899.","DOI":"10.1038\/ng1398"},{"key":"key\n\t\t\t\t20171011121724_DDI009C20","doi-asserted-by":"crossref","unstructured":"Bastepe, M., Pincus, J.E., Sugimoto, T., Tojo, K., Kanatani, M., Azuma, Y., Kruse, K., Rosenbloom, A.L., Koshiyama, H. and J\u00fcppner, H. ( 2001 ) Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A\/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum. Mol. Genet. , 10 , 1231 \u20131241.","DOI":"10.1093\/hmg\/10.12.1231"},{"key":"key\n\t\t\t\t20171011121724_DDI009C21","doi-asserted-by":"crossref","unstructured":"Jan de Beur, S., Ding, C., Germain-Lee, E., Cho, J., Maret, A. and Levine, M.A. ( 2003 ) Discordance between genetic and epigenetic defects in pseudohypoparathyroidism typ. 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am. J. Hum. Genet. , 73 , 314 \u2013322.","DOI":"10.1086\/377136"},{"key":"key\n\t\t\t\t20171011121724_DDI009C22","doi-asserted-by":"crossref","unstructured":"Juppner, H., Schipani, E., Bastepe, M., Cole, D.E., Lawson, M.L., Mannstadt, M., Hendy, G.N., Plotkin, H., Koshiyama, H., Koh, T. et\u00a0al. ( 1998 ) The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc. Natl Acad. Sci. USA , 95 , 11798 \u201311803.","DOI":"10.1073\/pnas.95.20.11798"},{"key":"key\n\t\t\t\t20171011121724_DDI009C23","doi-asserted-by":"crossref","unstructured":"Bastepe, M., Frohlich, L.F., Hendy, G.N., Indridason, O.S., Josse, R.G., Koshiyama, H., Korkko, J., Nakamoto, J.M., Rosenbloom, A.L., Slyper, A.H. et\u00a0al. ( 2003 ) Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J. Clin. Invest. , 112 , 1255 \u20131263 (see also supplement).","DOI":"10.1172\/JCI19159"},{"key":"key\n\t\t\t\t20171011121724_DDI009C24","doi-asserted-by":"crossref","unstructured":"Bastepe, M., Lane, A.H. and J\u00fcppner, H. ( 2001 ) Paternal uniparental disomy of chromosome 20q \u2013 and the resulting changes in GNAS1 methylation \u2013 as a plausible cause of pseudohypoparathyroidism. Am. J. Hum. Genet. , 68 , 1283 \u20131289.","DOI":"10.1086\/320117"},{"key":"key\n\t\t\t\t20171011121724_DDI009C25","doi-asserted-by":"crossref","unstructured":"Jan De Beur, S.M., O'Connell, J.R., Peila, R., Cho, J., Deng, Z., Kam, S. and Levine, M.A. ( 2003 ) The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3. J. Bone Miner. Res. , 18 , 424 \u2013433.","DOI":"10.1359\/jbmr.2003.18.3.424"},{"key":"key\n\t\t\t\t20171011121724_DDI009C26","doi-asserted-by":"crossref","unstructured":"Coombes, C., Arnaud, P., Gordon, E., Dean, W., Coar, E.A., Williamson, C.M., Feil, R., Peters, J. and Kelsey, G. ( 2003 ) Epigenetic properties and identification of an imprint mark in the Nesp - Gnasxl domain of the mouse Gnas imprinted locus. Mol. Cell. Biol. , 23 , 5475 \u20135488.","DOI":"10.1128\/MCB.23.16.5475-5488.2003"},{"key":"key\n\t\t\t\t20171011121724_DDI009C27","doi-asserted-by":"crossref","unstructured":"Judson, H., Hayward, B.E., Sheridan, E. and Bonthron, D.T. ( 2002 ) A global disorder of imprinting in the human female germline. Nature , 416 , 539 \u2013542.","DOI":"10.1038\/416539a"},{"key":"key\n\t\t\t\t20171011121724_DDI009C28","doi-asserted-by":"crossref","unstructured":"Bourc'his, D., Xu, G., Lin, C., Bollman, B. and Bestor, T.H. ( 2001 ) Dnmt3L and the establishment of maternal genomic imprints. Science , 294 , 2536 \u20132539.","DOI":"10.1126\/science.1065848"},{"key":"key\n\t\t\t\t20171011121724_DDI009C29","doi-asserted-by":"crossref","unstructured":"Wutz, A. and Barlow, D.P. ( 1998 ) Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature , 389 , 745 \u2013749.","DOI":"10.1038\/39631"},{"key":"key\n\t\t\t\t20171011121724_DDI009C30","doi-asserted-by":"crossref","unstructured":"Lee, J.T. ( 2000 ) Disruption of imprinted X inactivation by parent-of-origin effects at Tsix. Cell , 103 , 17 \u201327.","DOI":"10.1016\/S0092-8674(00)00101-X"},{"key":"key\n\t\t\t\t20171011121724_DDI009C31","doi-asserted-by":"crossref","unstructured":"Ball, S.T., Williamson, C.M., Hayes, C., Hacker, T. and Peters, J. ( 2001 ) The spatial and temporal expression pattern of Nesp and its antisense Nespas , in mid-gestation mouse embryos. Mech. Dev , 100 , 79 \u201381.","DOI":"10.1016\/S0925-4773(00)00490-1"},{"key":"key\n\t\t\t\t20171011121724_DDI009C32","doi-asserted-by":"crossref","unstructured":"Abramowitz, J., Grenet, D., Birnbaumer, M., Torres, H.N. and Birnbaumer, L. ( 2004 ) XL\u03b1s, the extra-long form of the \u03b1-subunit of the G s G protein, is significantly longer than suspected, and so is its companion Alex. Proc. Natl Acad. Sci. USA , 101 , 8366 \u20138371.","DOI":"10.1073\/pnas.0308758101"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/14\/1\/95\/6949057\/ddi009.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,4]],"date-time":"2020-04-04T00:09:50Z","timestamp":1585958990000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/14\/1\/95\/2355788\/Distinct-patterns-of-abnormal-GNAS-imprinting-in"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,10]]},"references-count":32,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2004,11,10]]},"published-print":{"date-parts":[[2005,1,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddi009","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2005,1,1]]},"published":{"date-parts":[[2004,11,10]]}}}