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Volumn 154, Issue 3, 2010, Pages 377-386

Imprinting on chromosome 20: Tissue-specific imprinting and imprinting mutations in the GNAS locus

Author keywords

DNA methylation; Epimutations; GNAS; Gsalpha; Imprinting; Pseudohypoparathyroidism

Indexed keywords

ALLELE; CHROMOSOME 20; CHROMOSOME DELETION; DNA METHYLATION; GENE; GENE CONTROL; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENOME IMPRINTING; GNAS GENE; HUMAN; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; REVIEW; TISSUE SPECIFICITY; TRANSCRIPTION REGULATION; VERTICAL TRANSMISSION; ANTIBODY SPECIFICITY; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

EID: 77955876027     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30271     Document Type: Review
Times cited : (60)

References (80)
  • 3
    • 67651163684 scopus 로고    scopus 로고
    • Extralarge XL(alpha)s (XXL(alpha)s), a variant of stimulatory G protein alpha-subunit (Gs(alpha)), is a distinct, membrane-anchored GNAS product that can mimic Gs(alpha)
    • Aydin C, Aytan N, Mahon MJ, Tawfeek HA, Kowall NW, Dedeoglu A, Bastepe M. 2009. Extralarge XL(alpha)s (XXL(alpha)s), a variant of stimulatory G protein alpha-subunit (Gs(alpha)), is a distinct, membrane-anchored GNAS product that can mimic Gs(alpha). Endocrinology 150:3567-3575.
    • (2009) Endocrinology , vol.150 , pp. 3567-3575
    • Aydin, C.1    Aytan, N.2    Mahon, M.J.3    Tawfeek, H.A.4    Kowall, N.W.5    Dedeoglu, A.6    Bastepe, M.7
  • 4
    • 0035013623 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of chromosome 20q - And the resulting changes in GNAS1 methylation - As a plausible cause of pseudohypoparathyroidism
    • DOI 10.1086/320117
    • Bastepe M, Lane AH, Jüppner H. 2001a. Paternal uniparental isodisomy of chromosome 20q - and the resulting changes in GNAS1 methylation - as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 68:1283-1289. (Pubitemid 32424427)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.5 , pp. 1283-1289
    • Bastepe, M.1    Lane, A.H.2    Juppner, H.3
  • 5
    • 0035362592 scopus 로고    scopus 로고
    • 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
    • Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H. 2001b. 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 10:1231-1241.
    • (2001) Hum Mol Genet , vol.10 , pp. 1231-1241
    • Bastepe, M.1    Pincus, J.E.2    Sugimoto, T.3    Tojo, K.4    Kanatani, M.5    Azuma, Y.6    Kruse, K.7    Rosenbloom, A.L.8    Koshiyama, H.9    Jüppner, H.10
  • 6
    • 0036020511 scopus 로고    scopus 로고
    • Receptor-mediated adenylyl cyclase activation through XLalphas, the extra-large variant of the stimulatory G protein alpha-subunit
    • DOI 10.1210/me.2002-0054
    • Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Jüppner H. 2002. Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit. Mol Endocrinol 16:1912-1919. (Pubitemid 34828097)
    • (2002) Molecular Endocrinology , vol.16 , Issue.8 , pp. 1912-1919
    • Bastepe, M.1    Gunes, Y.2    Perez-Villamil, B.3    Hunzelman, J.4    Weinstein, L.S.5    Juppner, H.6
  • 8
    • 11244353640 scopus 로고    scopus 로고
    • Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
    • DOI 10.1038/ng1487
    • Bastepe M, Fröhlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Jüppner H. 2005. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 37:25-27. (Pubitemid 40070935)
    • (2005) Nature Genetics , vol.37 , Issue.1 , pp. 25-27
    • Bastepe, M.1    Frohlich, L.F.2    Linglart, A.3    Abu-Zahra, H.S.4    Tojo, K.5    Ward, L.M.6    Juppner, H.7
  • 11
    • 0022391691 scopus 로고
    • Differential activity of maternally and paternally derived chromosome regions in mice
    • DOI 10.1038/315496a0
    • Cattanach BM, Kirk M. 1985. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315:496-498. (Pubitemid 15232865)
    • (1985) Nature , vol.315 , Issue.6019 , pp. 496-498
    • Cattanach, B.M.1    Kirk, M.2
  • 15
    • 77950202899 scopus 로고    scopus 로고
    • G(s)alpha deficiency in adipose tissue leads to a lean phenotype with divergent effects on cold tolerance and diet-induced thermogenesis
    • Chen M, Chen H, Nguyen A, Gupta D, Wang J, Lai EW, Pacak K, Gavrilova O, Quon MJ, Weinstein LS. 2010. G(s)alpha deficiency in adipose tissue leads to a lean phenotype with divergent effects on cold tolerance and diet-induced thermogenesis. Cell Metab 11:320-330.
    • (2010) Cell Metab , vol.11 , pp. 320-330
    • Chen, M.1    Chen, H.2    Nguyen, A.3    Gupta, D.4    Wang, J.5    Lai, E.W.6    Pacak, K.7    Gavrilova, O.8    Quon, M.J.9    Weinstein, L.S.10
  • 17
  • 18
    • 0027399429 scopus 로고
    • Imprinting in Albright's hereditary osteodystrophy
    • Davies SJ, Hughes HE. 1993. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30:101-103.
    • (1993) J Med Genet , vol.30 , pp. 101-103
    • Davies, S.J.1    Hughes, H.E.2
  • 20
    • 0035416510 scopus 로고    scopus 로고
    • The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2
    • Evans HK, Wylie AA, Murphy SK, Jirtle RL. 2001. The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2. Genomics 77:99-104.
    • (2001) Genomics , vol.77 , pp. 99-104
    • Evans, H.K.1    Wylie, A.A.2    Murphy, S.K.3    Jirtle, R.L.4
  • 21
    • 0038778398 scopus 로고    scopus 로고
    • Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation
    • DOI 10.1093/hmg/ddg130
    • Freson K, Jaeken J, Van Helvoirt M, de Zegher F, Wittevrongel C, Thys C, Hoylaerts MF, Vermylen J, Van Geet C. 2003. Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. Hum Mol Genet 12:1121-1130. (Pubitemid 36622144)
    • (2003) Human Molecular Genetics , vol.12 , Issue.10 , pp. 1121-1130
    • Freson, K.1    Jaeken, J.2    Van Helvoirt, M.3    De Zegher, F.4    Wittevrongel, C.5    Thys, C.6    Hoylaerts, M.F.7    Vermylen, J.8    Van Geet, C.9
  • 22
    • 34250849292 scopus 로고    scopus 로고
    • Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16
    • Fröhlich LF, Bastepe M, Ozturk D, Abu-Zahra H, Jüppner H. 2007. Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. Endocrinology 148:2925-2935.
    • (2007) Endocrinology , vol.148 , pp. 2925-2935
    • Fröhlich, L.F.1    Bastepe, M.2    Ozturk, D.3    Abu-Zahra, H.4    Jüppner, H.5
  • 25
    • 0141606268 scopus 로고    scopus 로고
    • Growth hormone deficiency in pseudohypoparathyroidism type 1a: Another manifestation of multihormone resistance
    • Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. 2003. Growth hormone deficiency in pseudohypoparathyroidism type 1a: Another manifestation of multihormone resistance. J Clin Endocrinol Metab 88:4059-4069.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4059-4069
    • Germain-Lee, E.L.1    Groman, J.2    Crane, J.L.3    Jan De Beur, S.M.4    Levine, M.A.5
  • 27
    • 0025681357 scopus 로고
    • How imprinting is relevant to human disease
    • Hall JG. 1990. How imprinting is relevant to human disease. Dev Suppl 141-148.
    • (1990) Dev Suppl , pp. 141-148
    • Hall, J.G.1
  • 28
    • 0034701294 scopus 로고    scopus 로고
    • An imprinted antisense transcript at the human GNAS1 locus
    • Hayward BE, Bonthron DT. 2000. An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 9:835-841.
    • (2000) Hum Mol Genet , vol.9 , pp. 835-841
    • Hayward, B.E.1    Bonthron, D.T.2
  • 33
    • 0042165833 scopus 로고    scopus 로고
    • Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1
    • DOI 10.1086/377136
    • Jan de Beur S, Ding C, Germain-Lee E, Cho J, Maret A, Levine MA. 2003. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet 73:314-322. (Pubitemid 36920994)
    • (2003) American Journal of Human Genetics , vol.73 , Issue.2 , pp. 314-322
    • De Beur, S.J.1    Ding, C.2    Germain-Lee, E.3    Cho, J.4    Maret, A.5    Levine, M.A.6
  • 35
    • 0035898609 scopus 로고    scopus 로고
    • Two overlapping reading frames in a single exon encode interacting proteins - A novel way of gene usage
    • DOI 10.1093/emboj/20.14.3849
    • Klemke M, Kehlenbach RH, Huttner WB. 2001. Two overlapping reading frames in a single exon encode interacting proteins - A novel way of gene usage. EMBO J 20:3849-3860. (Pubitemid 32691796)
    • (2001) EMBO Journal , vol.20 , Issue.14 , pp. 3849-3860
    • Klemke, M.1    Kehlenbach, R.H.2    Huttner, W.B.3
  • 36
    • 69549128557 scopus 로고    scopus 로고
    • The function of non-coding RNAs in genomic imprinting
    • Koerner MV, Pauler FM, Huang R, Barlow DP. 2009. The function of non-coding RNAs in genomic imprinting. Develop 136:1771-1783.
    • (2009) Develop , vol.136 , pp. 1771-1783
    • Koerner, M.V.1    Pauler, F.M.2    Huang, R.3    Barlow, D.P.4
  • 38
    • 17644372378 scopus 로고    scopus 로고
    • A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS
    • DOI 10.1086/429932
    • Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M. 2005. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet 76:804-814. (Pubitemid 40563102)
    • (2005) American Journal of Human Genetics , vol.76 , Issue.5 , pp. 804-814
    • Linglart, A.1    Gensure, R.C.2    Olney, R.C.3    Juppner, H.4    Bastepe, M.5
  • 39
    • 36248993369 scopus 로고    scopus 로고
    • Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus
    • DOI 10.1111/j.1365-2265.2007.02969.x
    • Linglart A, Bastepe M, Jüppner H. 2007. Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. Clin Endocrinol 67:822-831. (Pubitemid 350135123)
    • (2007) Clinical Endocrinology , vol.67 , Issue.6 , pp. 822-831
    • Linglart, A.1    Bastepe, M.2    Juppner, H.3
  • 41
    • 0033865243 scopus 로고    scopus 로고
    • Identification of a methylation imprint mark within the mouse gnas locus
    • DOI 10.1128/MCB.20.16.5808-5817.2000
    • Liu J, Yu S, Litman D, Chen W, Weinstein LS. 2000b. Identification of a methylation imprint mark within the mouse Gnas locus. Mol Cell Biol 20: 5808-5817. (Pubitemid 30613030)
    • (2000) Molecular and Cellular Biology , vol.20 , Issue.16 , pp. 5808-5817
    • Liu, J.1    Yu, S.2    Litman, D.3    Chen, W.4    Weinstein, L.S.5
  • 42
    • 0141857714 scopus 로고    scopus 로고
    • salpha is imprinted in human thyroid glands: Implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
    • DOI 10.1210/jc.2003-030393
    • Liu J, Erlichman B, Weinstein LS. 2003. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: Implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 88: 4336-4341. (Pubitemid 37153740)
    • (2003) Journal of Clinical Endocrinology and Metabolism , vol.88 , Issue.9 , pp. 4336-4341
    • Liu, J.1    Erlichman, B.2    Weinstein, L.S.3
  • 44
    • 12344293383 scopus 로고    scopus 로고
    • Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
    • DOI 10.1093/hmg/ddi009
    • Liu J, Nealon JG, Weinstein LS. 2005b. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet 14: 95-102. (Pubitemid 40123466)
    • (2005) Human Molecular Genetics , vol.14 , Issue.1 , pp. 95-102
    • Liu, J.1    Nealon, J.G.2    Weinstein, L.S.3
  • 45
    • 33947520961 scopus 로고    scopus 로고
    • Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity
    • Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL. 2007. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab 92: 1073-1079.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 1073-1079
    • Long, D.N.1    McGuire, S.2    Levine, M.A.3    Weinstein, L.S.4    Germain-Lee, E.L.5
  • 47
    • 33845317259 scopus 로고    scopus 로고
    • Mutations in the Gs alpha gene causing hormone resistance
    • DOI 10.1016/j.beem.2006.09.001, PII S1521690X06000728, Hormone Resistance Syndromes
    • Mantovani G, Spada A. 2006. Mutations in the Gs alpha gene causing hormone resistance. Best Pract Res Clin Endocrinol Metab 20:501-513. (Pubitemid 44872636)
    • (2006) Best Practice and Research: Clinical Endocrinology and Metabolism , vol.20 , Issue.4 , pp. 501-513
    • Mantovani, G.1    Spada, A.2
  • 48
    • 0036771614 scopus 로고    scopus 로고
    • The Gsalpha gene: Predominant maternal origin of transcription in human thyroid gland and gonads
    • Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A. 2002. The Gsalpha gene: Predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 87:4736-4740.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4736-4740
    • Mantovani, G.1    Ballare, E.2    Giammona, E.3    Beck-Peccoz, P.4    Spada, A.5
  • 55
    • 38049169578 scopus 로고    scopus 로고
    • Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: Possible cerebral imprinting of Gsalpha
    • Mouallem M, Shaharabany M, Weintrob N, Shalitin S, Nagelberg N, Shapira H, Zadik Z, Farfel Z. 2007. Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: Possible cerebral imprinting of Gsalpha. Clin Endocrinol 68:233-239.
    • (2007) Clin Endocrinol , vol.68 , pp. 233-239
    • Mouallem, M.1    Shaharabany, M.2    Weintrob, N.3    Shalitin, S.4    Nagelberg, N.5    Shapira, H.6    Zadik, Z.7    Farfel, Z.8
  • 56
    • 55449135271 scopus 로고    scopus 로고
    • Oscillating evolution of a mammalian locus with overlapping reading frames: An XLalphas/ALEX relay
    • Nekrutenko A, Wadhawan S, Goetting-Minesky P, Makova KD. 2005. Oscillating evolution of a mammalian locus with overlapping reading frames: An XLalphas/ALEX relay. PLoS Genet 1:e18.
    • (2005) PLoS Genet , vol.1
    • Nekrutenko, A.1    Wadhawan, S.2    Goetting-Minesky, P.3    Makova, K.D.4
  • 57
    • 0034721880 scopus 로고    scopus 로고
    • Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization
    • Pasolli HA, Klemke M, Kehlenbach RH, Wang Y, Huttner WB. 2000. Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization. J Biol Chem 275:33622-33632.
    • (2000) J Biol Chem , vol.275 , pp. 33622-33632
    • Pasolli, H.A.1    Klemke, M.2    Kehlenbach, R.H.3    Wang, Y.4    Huttner, W.B.5
  • 60
    • 3543036987 scopus 로고    scopus 로고
    • The imprinted signaling protein XLalphas is required for postnatal adaptation to feeding
    • DOI 10.1038/ng1397
    • Plagge A, Gordon E, Dean W, Boiani R, Cinti S, Peters J, Kelsey G. 2004. The imprinted signalling protein XLas is required for postnatal adaptation to feeding. Nat Genet 36:818-826. (Pubitemid 39014098)
    • (2004) Nature Genetics , vol.36 , Issue.8 , pp. 818-826
    • Plagge, A.1    Gordon, E.2    Dean, W.3    Boiani, R.4    Cinti, S.5    Peters, J.6    Kelsey, G.7
  • 62
    • 0037386191 scopus 로고    scopus 로고
    • Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA
    • Rickard SJ, Wilson LC. 2003. Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. Am J Hum Genet 72:961-974.
    • (2003) Am J Hum Genet , vol.72 , pp. 961-974
    • Rickard, S.J.1    Wilson, L.C.2
  • 63
    • 1942517842 scopus 로고    scopus 로고
    • salpha is associated with tissue-specific differences in histone methylation
    • DOI 10.1093/hmg/ddh098
    • Sakamoto A, Liu J, Greene A, Chen M, Weinstein LS. 2004. Tissue-specific imprinting of the G protein Gsalpha is associated with tissue-specific differences in histone methylation. Hum Mol Genet 13:819-828. (Pubitemid 38515211)
    • (2004) Human Molecular Genetics , vol.13 , Issue.8 , pp. 819-828
    • Sakamoto, A.1    Liu, J.2    Greene, A.3    Chen, M.4    Weinstein, L.S.5
  • 66
    • 77649127204 scopus 로고    scopus 로고
    • Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia
    • Thiele S, Werner R, Ahrens W, Hübner A, Hinkel KG, Höppner W, Igl B, Hiort O. 2010. Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. Exp Clin Endocrinol Diabetes 118:127-132.
    • (2010) Exp Clin Endocrinol Diabetes , vol.118 , pp. 127-132
    • Thiele, S.1    Werner, R.2    Ahrens, W.3    Hübner, A.4    Hinkel, K.G.5    Höppner, W.6    Igl, B.7    Hiort, O.8
  • 67
    • 51449115932 scopus 로고    scopus 로고
    • Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid
    • Unluturk U, Harmanci A, Babaoglu M, Yasar U, Varli K, Bastepe M, Bayraktar M. 2008. Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. Am J Med Sci 336:84-90.
    • (2008) Am J Med Sci , vol.336 , pp. 84-90
    • Unluturk, U.1    Harmanci, A.2    Babaoglu, M.3    Yasar, U.4    Varli, K.5    Bastepe, M.6    Bayraktar, M.7
  • 69
    • 0000032174 scopus 로고    scopus 로고
    • Albright hereditary osteodystrophy, pseudohypoparathytoidism and Gs defiency
    • Allen M, editor. Totowa, NJ, USA: Human Press Inc.
    • Weinstein LS. 1998. Albright hereditary osteodystrophy, pseudohypoparathytoidism and Gs defiency. In: Allen M, editor. Contemporary endocrinology: G proteins, receptors, disease; spiegel. Totowa, NJ, USA: Human Press Inc.
    • (1998) Contemporary Endocrinology: G Proteins, Receptors, Disease; Spiegel
    • Weinstein, L.S.1
  • 70
    • 0034793851 scopus 로고    scopus 로고
    • Endocrine manifestations of stimulatory G protein alpha subunit mutations and the role of genomic imprinting
    • DOI 10.1210/er.22.5.675
    • Weinstein LS, Yu S, Warner DR, Liu J. 2001. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 22:675-705. (Pubitemid 32955250)
    • (2001) Endocrine Reviews , vol.22 , Issue.5 , pp. 675-705
    • Weinstein, L.S.1    Yu, S.2    Warner, D.R.3    Liu, J.4
  • 73
    • 0028053516 scopus 로고
    • Albright's hereditary osteodystrophy
    • Wilson LC, Trembath RC. 1994. Albright's hereditary osteodystrophy. J Med Genet 31:779-784.
    • (1994) J Med Genet , vol.31 , pp. 779-784
    • Wilson, L.C.1    Trembath, R.C.2
  • 75
    • 33847251033 scopus 로고    scopus 로고
    • A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation
    • Wood AJ, Roberts RG, Monk D, Moore GE, Schulz R, Oakey RJ. 2007. A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation. PLoS Genet 3:e20.
    • (2007) PLoS Genet , vol.3
    • Wood, A.J.1    Roberts, R.G.2    Monk, D.3    Moore, G.E.4    Schulz, R.5    Oakey, R.J.6
  • 77
    • 33745806530 scopus 로고    scopus 로고
    • The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice
    • DOI 10.1074/jbc.M511752200
    • Xie T, Plagge A, Gavrilova O, Pack S, Jou W, Lai EW, Frontera M, Kelsey G, Weinstein LS. 2006. The alternative stimulatory G protein α-subunit XLαs is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice. J Biol Chem 281:18989-18999. (Pubitemid 44035402)
    • (2006) Journal of Biological Chemistry , vol.281 , Issue.28 , pp. 18989-18999
    • Xie, T.1    Plagge, A.2    Gavrilova, O.3    Pack, S.4    Jou, W.5    Lai, E.W.6    Frontera, M.7    Kelsey, G.8    Weinstein, L.S.9
  • 78
    • 37649025080 scopus 로고    scopus 로고
    • Beta cell-specific deficiency of the stimulatory G protein alpha-subunit Gsalpha leads to reduced beta cell mass and insulin-deficient diabetes
    • Xie T, Chen M, Zhang QH, Ma Z, Weinstein LS. 2007. Beta cell-specific deficiency of the stimulatory G protein alpha-subunit Gsalpha leads to reduced beta cell mass and insulin-deficient diabetes. Proc Natl Acad Sci 104:19601-19606.
    • (2007) Proc Natl Acad Sci , vol.104 , pp. 19601-19606
    • Xie, T.1    Chen, M.2    Zhang, Q.H.3    Ma, Z.4    Weinstein, L.S.5
  • 80
    • 0034740058 scopus 로고    scopus 로고
    • Galphas transcripts are biallelically expressed in the human kidney cortex: Implications for pseudohypoparathyroidism type 1b
    • DOI 10.1210/jc.86.10.4627
    • Zheng H, Radeva G, McCann JA, Hendy GN, Goodyer CG. 2001. Galphas transcripts are biallelically expressed in the human kidney cortex: Implications for pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab 86:4627-4629. (Pubitemid 33020497)
    • (2001) Journal of Clinical Endocrinology and Metabolism , vol.86 , Issue.10 , pp. 4627-4629
    • Zheng, H.1    Radeva, G.2    McCann, J.A.3    Hendy, G.N.4    Goodyer, C.G.5


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