메뉴 건너뛰기




Volumn 12, Issue 5, 2012, Pages 566-573

Recent advances in GNAS epigenetic research of pseudohypoparathyroidism

Author keywords

DNA methylation; GNAS cluster; Imprinting; Pseudohypoparathyroidism

Indexed keywords

GENOMIC DNA;

EID: 84860992917     PISSN: 15665240     EISSN: 18755666     Source Type: Journal    
DOI: 10.2174/156652412800619969     Document Type: Review
Times cited : (18)

References (78)
  • 1
    • 0024121610 scopus 로고
    • Isolation and characterization of the human Gs alpha gene
    • Kozasa T, Itoh H, Tsukamoto T, Kaziro Y. Isolation and characterization of the human Gs alpha gene. Proc Natl Acad Sci USA 1988; 85(7): 2081-2085.
    • (1988) Proc Natl Acad Sci USA , vol.85 , Issue.7 , pp. 2081-2085
    • Kozasa, T.1    Itoh, H.2    Tsukamoto, T.3    Kaziro, Y.4
  • 2
    • 0022872554 scopus 로고
    • Human cDNA clones for four species of G alpha s signal transduction protein
    • Bray P, Carter A, Simons C, et al. Human cDNA clones for four species of G alpha s signal transduction protein. Proc Natl Acad Sci USA 1986; 83(23): 8893-8897.
    • (1986) Proc Natl Acad Sci USA , vol.83 , Issue.23 , pp. 8893-8897
    • Bray, P.1    Carter, A.2    Simons, C.3
  • 3
    • 0027399429 scopus 로고
    • Imprinting in Albright's hereditary osteodystrophy
    • Davies SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 1993; 30(2): 101-103.
    • (1993) J Med Genet , vol.30 , Issue.2 , pp. 101-103
    • Davies, S.J.1    Hughes, H.E.2
  • 4
    • 0028068226 scopus 로고
    • Parental origin of transcription from the human GNAS1 gene
    • Campbell R, Gosden CM, Bonthron DT. Parental origin of transcription from the human GNAS1 gene. J Med Genet 1994; 31(8): 607-614.
    • (1994) J Med Genet , vol.31 , Issue.8 , pp. 607-614
    • Campbell, R.1    Gosden, C.M.2    Bonthron, D.T.3
  • 5
    • 0032555241 scopus 로고    scopus 로고
    • Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alphasubunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene
    • Yu S, Yu D, Lee E, et al. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alphasubunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc Natl Acad Sci USA 1998; 95(15): 8715-8720.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.15 , pp. 8715-8720
    • Yu, S.1    Yu, D.2    Lee, E.3
  • 6
    • 0035106246 scopus 로고    scopus 로고
    • Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly
    • Hayward BE, Barlier A, Korbonits M, et al. Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin invest 2001; 107(6): R31-R36.
    • (2001) J Clin Invest , vol.107 , Issue.6
    • Hayward, B.E.1    Barlier, A.2    Korbonits, M.3
  • 7
    • 0034752247 scopus 로고    scopus 로고
    • The stimulatory G protein alpha-subunit gene: Mutations and imprinting lead to complex phenotypes
    • Weinstein LS. The stimulatory G protein alpha-subunit gene: mutations and imprinting lead to complex phenotypes. J Clin Endocrinol Metab 2001; 86(10): 4622-4626.
    • (2001) J Clin Endocrinol Metab , vol.86 , Issue.10 , pp. 4622-4626
    • Weinstein, L.S.1
  • 8
    • 0035982094 scopus 로고    scopus 로고
    • Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
    • Germain-Lee EL, Ding CL, Deng Z, et al. Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 2002; 296(1): 67-72.
    • (2002) Biochem Biophys Res Commun , vol.296 , Issue.1 , pp. 67-72
    • Germain-Lee, E.L.1    Ding, C.L.2    Deng, Z.3
  • 9
    • 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. The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 2002; 87(10): 4736-4740.
    • (2002) J Clin Endocrinol Metab , vol.87 , Issue.10 , pp. 4736-4740
    • Mantovani, G.1    Ballare, E.2    Giammona, E.3    Beck-Peccoz, P.4    Spada, A.5
  • 10
    • 0141857714 scopus 로고    scopus 로고
    • The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: Implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
    • Liu J, Erlichman B, Weinstein LS. 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 2003; 88(9): 4336-4341.
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.9 , pp. 4336-4341
    • Liu, J.1    Erlichman, B.2    Weinstein, L.S.3
  • 11
    • 0025289782 scopus 로고
    • Alternative promoter and 5' exon generate a novel Gs alpha mRNA
    • Ishikawa Y, Bianchi C, Nadal-Ginard B, Homcy CJ. Alternative promoter and 5' exon generate a novel Gs alpha mRNA. J Biol Chem 1990; 265(15): 8458-8462.
    • (1990) J Biol Chem , vol.265 , Issue.15 , pp. 8458-8462
    • Ishikawa, Y.1    Bianchi, C.2    Nadal-Ginard, B.3    Homcy, C.J.4
  • 13
    • 0033865243 scopus 로고    scopus 로고
    • Identification of a methylation imprint mark within the mouse Gnas locus
    • Liu J, Yu S, Litman D, Chen W, Weinstein LS. Identification of a methylation imprint mark within the mouse Gnas locus. Mol Cell Biol 2000; 20(16): 5808-5817.
    • (2000) Mol Cell Biol , vol.20 , Issue.16 , pp. 5808-5817
    • Liu, J.1    Yu, S.2    Litman, D.3    Chen, W.4    Weinstein, L.S.5
  • 14
    • 0028670789 scopus 로고
    • XL alpha s is a new type of G protein
    • Kehlenbach RH, Matthey J, Huttner WB. XL alpha s is a new type of G protein. Nature 1994; 372(6508): 804-809.
    • (1994) Nature , vol.372 , Issue.6508 , pp. 804-809
    • Kehlenbach, R.H.1    Matthey, J.2    Huttner, W.B.3
  • 15
    • 0032544019 scopus 로고    scopus 로고
    • The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
    • Hayward BE, Kamiya M, Strain L, et al. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 1998; 95(17): 10038-10043.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.17 , pp. 10038-10043
    • Hayward, B.E.1    Kamiya, M.2    Strain, L.3
  • 16
    • 0033379049 scopus 로고    scopus 로고
    • Identification of imprinted loci by methylation-sensitive representational difference analysis: Application to mouse distal chromosome 2
    • Kelsey G, Bodle D, Miller HJ, et al. Identification of imprinted loci by methylation-sensitive representational difference analysis: application to mouse distal chromosome 2. Genomics 1999; 62(2): 129-138.
    • (1999) Genomics , vol.62 , Issue.2 , pp. 129-138
    • Kelsey, G.1    Bodle, D.2    Miller, H.J.3
  • 17
    • 0033616719 scopus 로고    scopus 로고
    • A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2
    • Peters J, Wroe SF, Wells CA, et al. A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc Natl Acad Sci USA 1999; 96(7): 3830-3835.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.7 , pp. 3830-3835
    • Peters, J.1    Wroe, S.F.2    Wells, C.A.3
  • 18
    • 0034331227 scopus 로고    scopus 로고
    • Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus
    • Li T, Vu TH, Zeng ZL, et al. Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus. Genomics 2000; 69(3): 295-304.
    • (2000) Genomics , vol.69 , Issue.3 , pp. 295-304
    • Li, T.1    Vu, T.H.2    Zeng, Z.L.3
  • 19
    • 0032433682 scopus 로고    scopus 로고
    • Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
    • Hayward BE, Moran V, Strain L, Bonthron DT. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 1998; 95(26): 15475-1580.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.26 , pp. 1580-15475
    • Hayward, B.E.1    Moran, V.2    Strain, L.3    Bonthron, D.T.4
  • 20
    • 0030998512 scopus 로고    scopus 로고
    • Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity
    • Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, Wolkersdorfer M, Winkler H, Fischer-Colbrie R. Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity. J Biol Chem 1997; 272(17): 11657-11662.
    • (1997) J Biol Chem , vol.272 , Issue.17 , pp. 11657-11662
    • Ischia, R.1    Lovisetti-Scamihorn, P.2    Hogue-Angeletti, R.3    Wolkersdorfer, M.4    Winkler, H.5    Fischer-Colbrie, R.6
  • 21
    • 0034701294 scopus 로고    scopus 로고
    • An imprinted antisense transcript at the human GNAS1 locus
    • Hayward BE, Bonthron DT. An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 2000; 9(5): 835-841.
    • (2000) Hum Mol Genet , vol.9 , Issue.5 , pp. 835-841
    • Hayward, B.E.1    Bonthron, D.T.2
  • 22
    • 0034724290 scopus 로고    scopus 로고
    • An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus
    • Wroe SF, Kelsey G, Skinner JA, et al. An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc Natl Acad Sci USA 2000; 97(7): 3342-3346.
    • (2000) Proc Natl Acad Sci USA , vol.97 , Issue.7 , pp. 3342-3346
    • Wroe, S.F.1    Kelsey, G.2    Skinner, J.A.3
  • 23
    • 0036146828 scopus 로고    scopus 로고
    • Alternative non-coding splice variants of Nespas, an imprinted gene antisense to Nesp in the Gnas imprinting cluster
    • Williamson CM, Skinner JA, Kelsey G, Peters J. Alternative non-coding splice variants of Nespas, an imprinted gene antisense to Nesp in the Gnas imprinting cluster. Mammalian genome 2002; 13(2): 74-79.
    • (2002) Mammalian Genome , vol.13 , Issue.2 , pp. 74-79
    • Williamson, C.M.1    Skinner, J.A.2    Kelsey, G.3    Peters, J.4
  • 24
    • 0041631077 scopus 로고    scopus 로고
    • Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus
    • Coombes C, Arnaud P, Gordon E, et al. Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus. Mol Cell Biol 2003; 23(16): 5475-5488.
    • (2003) Mol Cell Biol , vol.23 , Issue.16 , pp. 5475-5488
    • Coombes, C.1    Arnaud, P.2    Gordon, E.3
  • 28
    • 0000821313 scopus 로고
    • Pseudohypoparathyroidism- an example of Seabright syndrome
    • Albright F, Burnett CH, Smith PH, Parson W. Pseudohypoparathyroidism- an example of Seabright syndrome. Endocrinology 1942; 30: 922-932.
    • (1942) Endocrinology , vol.30 , pp. 922-932
    • Albright, F.1    Burnett, C.H.2    Smith, P.H.3    Parson, W.4
  • 29
    • 0141857716 scopus 로고    scopus 로고
    • Growth hormonereleasing hormone resistance in pseudohypoparathyroidism type ia: New evidence for imprinting of the Gs alpha gene
    • Mantovani G, Maghnie M, Weber G, et al. Growth hormonereleasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene. J Clin Endocrinol Metab 2003; 88(9): 4070-4074.
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.9 , pp. 4070-4074
    • Mantovani, G.1    Maghnie, M.2    Weber, G.3
  • 30
    • 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. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 2003; 88(9): 4059-4069.
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.9 , pp. 4059-4069
    • Germain-Lee, E.L.1    Groman, J.2    Crane, J.L.3    de Jan, B.S.M.4    Levine, M.A.5
  • 31
    • 0020627955 scopus 로고
    • Resistance to multiple hormones in patients with pseudohypoparathyroidism.Association with deficient activity of guanine nucleotide regulatory protein
    • Levine MA, Downs RW, Jr., Moses AM, et al. Resistance to multiple hormones in patients with pseudohypoparathyroidism.Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 1983; 74(4): 545-556.
    • (1983) Am J Med , vol.74 , Issue.4 , pp. 545-556
    • Levine, M.A.1    Downs Jr., R.W.2    Moses, A.M.3
  • 33
    • 34548812110 scopus 로고    scopus 로고
    • Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib
    • Mantovani G, Bondioni S, Linglart A, et al. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 2007; 92(9): 3738-3742.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.9 , pp. 3738-3742
    • Mantovani, G.1    Bondioni, S.2    Linglart, A.3
  • 34
    • 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. 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 2007; 92(3): 1073-1079.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.3 , pp. 1073-1079
    • Long, D.N.1    McGuire, S.2    Levine, M.A.3    Weinstein, L.S.4    Germain-Lee, E.L.5
  • 35
    • 0028143011 scopus 로고
    • Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy
    • Wilson LC, Oude Luttikhuis ME, Clayton PT, Fraser WD, Trembath RC. Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. J Med Genet 1994; 31(11): 835-839.
    • (1994) J Med Genet , vol.31 , Issue.11 , pp. 835-839
    • Wilson, L.C.1    Oude, L.M.E.2    Clayton, P.T.3    Fraser, W.D.4    Trembath, R.C.5
  • 36
    • 17844406661 scopus 로고    scopus 로고
    • GNAS locus and pseudohypoparathyroidism
    • Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res 2005; 63(2): 65-74.
    • (2005) Horm Res , vol.63 , Issue.2 , pp. 65-74
    • Bastepe, M.1    Juppner, H.2
  • 37
    • 0034793851 scopus 로고    scopus 로고
    • Endocrine manifestations of stimulatory G protein alpha-subunitmutations and the role of genomic imprinting
    • Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunitmutations and the role of genomic imprinting. Endocr Rev 2001; 22(5): 675-705.
    • (2001) Endocr Rev , vol.22 , Issue.5 , pp. 675-705
    • Weinstein, L.S.1    Yu, S.2    Warner, D.R.3    Liu, J.4
  • 38
    • 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, et al. 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 2001; 10(12): 1231-1241.
    • (2001) Hum Mol Genet , vol.10 , Issue.12 , pp. 1231-1241
    • Bastepe, M.1    Pincus, J.E.2    Sugimoto, T.3
  • 39
    • 12344293383 scopus 로고    scopus 로고
    • Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
    • Liu J, Nealon JG, Weinstein LS. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet 2005; 14(1): 95-102.
    • (2005) Hum Mol Genet , vol.14 , Issue.1 , pp. 95-102
    • Liu, J.1    Nealon, J.G.2    Weinstein, L.S.3
  • 40
    • 0042165833 scopus 로고    scopus 로고
    • Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1
    • Jan de Beur S, Ding C, Germain-Lee E, Cho J, Maret A, Levine MA. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet 2003; 73(2): 314-322.
    • (2003) Am J Hum Genet , vol.73 , Issue.2 , pp. 314-322
    • de Jan, B.S.1    Ding, C.2    Germain-Lee, E.3    Cho, J.4    Maret, A.5    Levine, M.A.6
  • 41
    • 9144266313 scopus 로고    scopus 로고
    • Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
    • Bastepe M, Frohlich LF, Hendy GN, et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 2003; 112(8): 1255-1263.
    • (2003) J Clin Invest , vol.112 , Issue.8 , pp. 1255-1263
    • Bastepe, M.1    Frohlich, L.F.2    Hendy, G.N.3
  • 42
    • 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
    • Linglart A, Gensure RC, Olney RC, Juppner H, Bastepe M. 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 2005; 76(5): 804-814.
    • (2005) Am J Hum Genet , vol.76 , Issue.5 , pp. 804-814
    • Linglart, A.1    Gensure, R.C.2    Olney, R.C.3    Juppner, H.4    Bastepe, M.5
  • 43
    • 17244363516 scopus 로고    scopus 로고
    • Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit
    • Liu J, Chen M, Deng C, et al. Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit. Proc Natl Acad Sci USA 2005; 102(15): 5513-5518.
    • (2005) Proc Natl Acad Sci USA , vol.102 , Issue.15 , pp. 5513-5518
    • Liu, J.1    Chen, M.2    Deng, C.3
  • 44
    • 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
    • Linglart A, Bastepe M, Juppner H. 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 (Oxf) 2007; 67(6): 822-831.
    • (2007) Clin Endocrinol (Oxf) , vol.67 , Issue.6 , pp. 822-831
    • Linglart, A.1    Bastepe, M.2    Juppner, H.3
  • 45
    • 78951484721 scopus 로고    scopus 로고
    • Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
    • Maupetit-Mehouas S, Mariot V, Reynes C, et al. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. J Med Genet 2011; 48(1): 55-63.
    • (2011) J Med Genet , vol.48 , Issue.1 , pp. 55-63
    • Maupetit-Mehouas, S.1    Mariot, V.2    Reynes, C.3
  • 46
    • 77957753745 scopus 로고    scopus 로고
    • A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system
    • Izzi B, Decallonne B, Devriendt K, et al. A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system. Clin Chim Acta 2010; 411(23/24): 2033-2039.
    • (2010) Clin Chim Acta , vol.411 , Issue.23-24 , pp. 2033-2039
    • Izzi, B.1    Decallonne, B.2    Devriendt, K.3
  • 47
    • 77952092694 scopus 로고    scopus 로고
    • Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib
    • Cavaco BM, Tomaz RA, Fonseca F, Mascarenhas MR, Leite V, Sobrinho LG. Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. Endocrine 2010; 37(3): 408-414.
    • (2010) Endocrine , vol.37 , Issue.3 , pp. 408-414
    • Cavaco, B.M.1    Tomaz, R.A.2    Fonseca, F.3    Mascarenhas, M.R.4    Leite, V.5    Sobrinho, L.G.6
  • 48
    • 0035013623 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism
    • Bastepe M, Lane AH, Juppner H. Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 2001; 68(5): 1283-1289.
    • (2001) Am J Hum Genet , vol.68 , Issue.5 , pp. 1283-1289
    • Bastepe, M.1    Lane, A.H.2    Juppner, H.3
  • 49
    • 78649826845 scopus 로고    scopus 로고
    • New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
    • Fernandez-Rebollo E, Lecumberri B, Garin I, et al. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism. Eur J Endocrinol 2010; 163(6): 953-962.
    • (2010) Eur J Endocrinol , vol.163 , Issue.6 , pp. 953-962
    • Fernandez-Rebollo, E.1    Lecumberri, B.2    Garin, I.3
  • 50
    • 79751531725 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)
    • Bastepe M, Altug-Teber O, Agarwal C, Oberfield SE, Bonin M, Juppner H. Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone 2011; 48(3): 659-662.
    • (2011) Bone , vol.48 , Issue.3 , pp. 659-662
    • Bastepe, M.1    Altug-Teber, O.2    Agarwal, C.3    Oberfield, S.E.4    Bonin, M.5    Juppner, H.6
  • 51
    • 79960640801 scopus 로고    scopus 로고
    • Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?
    • Fernandez-Rebollo E, Perez de Nanclares G, Lecumberri B, et al. Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? J Bone Miner Res 2011; 26.
    • (2011) J Bone Miner Res , pp. 26
    • Fernandez-Rebollo, E.1    de Perez, N.G.2    Lecumberri, B.3
  • 52
    • 0024213676 scopus 로고
    • Regulation of 1,25 (OH)2D synthesis in hypoparathyroidism and pseudohypoparathyroidism
    • Breslau NA, Weinstock RS. Regulation of 1,25 (OH)2D synthesis in hypoparathyroidism and pseudohypoparathyroidism. Am J Physiol 1988; 255(5 Pt 1):E730-E736.
    • (1988) Am J Physiol , vol.255 , Issue.5 PT 1
    • Breslau, N.A.1    Weinstock, R.S.2
  • 53
    • 0017253042 scopus 로고
    • 1,25-Dihydroxycholecalciferol deficiency: The probable cause of hypocalcemia and metabolic bone disease in pseudohypoparathyroidism
    • Drezner MK, Neelon FA, Haussler M, McPherson HT, Lebovitz HE. 1,25-Dihydroxycholecalciferol deficiency: the probable cause of hypocalcemia and metabolic bone disease in pseudohypoparathyroidism. J Clin Endocrinol Metab 1976; 42(4): 621-628.
    • (1976) J Clin Endocrinol Metab , vol.42 , Issue.4 , pp. 621-628
    • Drezner, M.K.1    Neelon, F.A.2    Haussler, M.3    McPherson, H.T.4    Lebovitz, H.E.5
  • 54
    • 34347217115 scopus 로고    scopus 로고
    • Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy
    • de Nanclares GP, Fernandez-Rebollo E, Santin I, et al. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 2007; 92(6): 2370-2373.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.6 , pp. 2370-2373
    • de Nanclares, G.P.1    Fernandez-Rebollo, E.2    Santin, I.3
  • 55
    • 40849106398 scopus 로고    scopus 로고
    • A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance
    • Mariot V, Maupetit-Mehouas S, Sinding C, Kottler ML, Linglart A. A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance. J Clin Endocrinol Metab 2008; 93(3): 661-665.
    • (2008) J Clin Endocrinol Metab , vol.93 , Issue.3 , pp. 661-665
    • Mariot, V.1    Maupetit-Mehouas, S.2    Sinding, C.3    Kottler, M.L.4    Linglart, A.5
  • 56
    • 76149108406 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism and GNAS epigenetic defects: Clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients
    • Mantovani G, de Sanctis L, Barbieri AM, et al. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab 2010; 95(2): 651-658.
    • (2010) J Clin Endocrinol Metab , vol.95 , Issue.2 , pp. 651-658
    • Mantovani, G.1    de Sanctis, L.2    Barbieri, A.M.3
  • 57
    • 77951594269 scopus 로고    scopus 로고
    • Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects
    • Lecumberri B, Fernandez-Rebollo E, Sentchordi L, et al. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects. J Med Genet 2010; 47(4): 276-280.
    • (2010) J Med Genet , vol.47 , Issue.4 , pp. 276-280
    • Lecumberri, B.1    Fernandez-Rebollo, E.2    Sentchordi, L.3
  • 58
    • 0035172470 scopus 로고    scopus 로고
    • G protein mutations in endocrine diseases
    • Lania A, Mantovani G, Spada A. G protein mutations in endocrine diseases. Eur J Endocrinol 2001; 145(5): 543-559.
    • (2001) Eur J Endocrinol , vol.145 , Issue.5 , pp. 543-559
    • Lania, A.1    Mantovani, G.2    Spada, A.3
  • 60
    • 57349153103 scopus 로고    scopus 로고
    • GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets
    • Freson K, Izzi B, Labarque V, et al. GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets. J Clin Endocrinol Metab 2008; 93(12):4851-4859.
    • (2008) J Clin Endocrinol Metab , vol.93 , Issue.12 , pp. 4851-4859
    • Freson, K.1    Izzi, B.2    Labarque, V.3
  • 61
    • 0037107349 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets
    • Freson K, Thys C, Wittevrongel C, et al. Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. Hum Mol Genet 2002; 11(22): 2741-2750.
    • (2002) Hum Mol Genet , vol.11 , Issue.22 , pp. 2741-2750
    • Freson, K.1    Thys, C.2    Wittevrongel, C.3
  • 62
    • 0000032174 scopus 로고    scopus 로고
    • Albright Hereditary Osetodystrophy, pseudohypoparathyroidism and Gs deficiency
    • In: Spiegel A. M, Clifton, NJ: Human Press
    • Weinstein LS. Albright Hereditary Osetodystrophy, pseudohypoparathyroidism and Gs deficiency. In: Spiegel A. M. G proteins, receptors and disease.: Clifton, NJ: Human Press 1998.
    • G Proteins, Receptors and Disease , pp. 1998
    • Weinstein, L.S.1
  • 63
    • 79957622746 scopus 로고    scopus 로고
    • Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalphareceptor interaction
    • Thiele S, de Sanctis L, Werner R, et al. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalphareceptor interaction. Hum Mutat 2011; 32(6): 653-660.
    • (2011) Hum Mutat , vol.32 , Issue.6 , pp. 653-660
    • Thiele, S.1    de Sanctis, L.2    Werner, R.3
  • 64
    • 0030817589 scopus 로고    scopus 로고
    • Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study
    • Marguet C, Mallet E, Basuyau JP, Martin D, Leroy M, Brunelle P. Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study. Horm Res 1997; 48(3): 120-130.
    • (1997) Horm Res , vol.48 , Issue.3 , pp. 120-130
    • Marguet, C.1    Mallet, E.2    Basuyau, J.P.3    Martin, D.4    Leroy, M.5    Brunelle, P.6
  • 65
    • 79960640986 scopus 로고    scopus 로고
    • Gsalpha activity is reduced in erythrocyte membranes of patients with pseudohypoparathyrodism due to epigenetic alterations at the GNAS locus
    • Zazo C, Thiele S, Martin C, et al. Gsalpha activity is reduced in erythrocyte membranes of patients with pseudohypoparathyrodism due to epigenetic alterations at the GNAS locus. J Bone Miner Res 2011; 23.
    • (2011) J Bone Miner Res , pp. 23
    • Zazo, C.1    Thiele, S.2    Martin, C.3
  • 67
    • 0038298316 scopus 로고    scopus 로고
    • Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension
    • Demura M, Takeda Y, Yoneda T, Furukawa K, Tachi A, Mabuchi H. Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension. J Clin Endocrinol Metab 2003; 88(7): 3043-3049.
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.7 , pp. 3043-3049
    • Demura, M.1    Takeda, Y.2    Yoneda, T.3    Furukawa, K.4    Tachi, A.5    Mabuchi, H.6
  • 68
    • 67349253397 scopus 로고    scopus 로고
    • Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
    • Bliek J, Verde G, Callaway J, et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 2009; 17(5): 611-619.
    • (2009) Eur J Hum Genet , vol.17 , Issue.5 , pp. 611-619
    • Bliek, J.1    Verde, G.2    Callaway, J.3
  • 69
    • 77955300140 scopus 로고    scopus 로고
    • Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
    • Poole RL, Baple E, Crolla JA, Temple IK, Mackay DJ. Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting. Am J Med Genet A 2010; 152A(8): 1990-1993.
    • (2010) Am J Med Genet A , vol.152 A , Issue.8 , pp. 1990-1993
    • Poole, R.L.1    Baple, E.2    Crolla, J.A.3    Temple, I.K.4    Mackay, D.J.5
  • 70
    • 79951809697 scopus 로고    scopus 로고
    • An atypical case of hypomethylation at multiple imprinted loci
    • Baple EL, Poole RL, Mansour S, et al. An atypical case of hypomethylation at multiple imprinted loci. Eur J Hum Genet 2011; 19(3): 360-362.
    • (2011) Eur J Hum Genet , vol.19 , Issue.3 , pp. 360-362
    • Baple, E.L.1    Poole, R.L.2    Mansour, S.3
  • 71
    • 34547526773 scopus 로고    scopus 로고
    • Gs alpha overexpression and loss of Gs alpha imprinting in human somatotroph adenomas: Association with tumor size and response to pharmacologic treatment
    • Picard C, Silvy M, Gerard C, et al. Gs alpha overexpression and loss of Gs alpha imprinting in human somatotroph adenomas: association with tumor size and response to pharmacologic treatment. International journal of cancer Journal international du cancer 2007; 121(6): 1245-1252.
    • (2007) International Journal of Cancer Journal International Du Cancer , vol.121 , Issue.6 , pp. 1245-1252
    • Picard, C.1    Silvy, M.2    Gerard, C.3
  • 72
    • 51349091985 scopus 로고    scopus 로고
    • PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib
    • Weinhaeusel A, Thiele S, Hofner M, Hiort O, Noehammer C. PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. Clin Chem 2008; 54(9): 1537-1545.
    • (2008) Clin Chem , vol.54 , Issue.9 , pp. 1537-1545
    • Weinhaeusel, A.1    Thiele, S.2    Hofner, M.3    Hiort, O.4    Noehammer, C.5
  • 73
    • 35648937679 scopus 로고    scopus 로고
    • Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: Critical evaluation and improvements
    • Coolen MW, Statham AL, Gardiner-Garden M, Clark SJ. Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: critical evaluation and improvements. Nucleic Acids Res 2007; 35(18): e119.
    • (2007) Nucleic Acids Res , vol.35 , Issue.18
    • Coolen, M.W.1    Statham, A.L.2    Gardiner-Garden, M.3    Clark, S.J.4
  • 74
    • 61449396660 scopus 로고    scopus 로고
    • Mass spectrometric analysis of cytosine methylation by base-specific cleavage and primer extension methods
    • van den Boom D, Ehrich M. Mass spectrometric analysis of cytosine methylation by base-specific cleavage and primer extension methods. Methods Mol Biol 2009 207-227.
    • (2009) Methods Mol Biol , pp. 207-227
    • van den Boom, D.1    Ehrich, M.2
  • 75
    • 36348942314 scopus 로고    scopus 로고
    • Gender specific differences in levels of DNA methylation at selected loci from human total blood: A tendency toward higher methylation levels in males
    • El-Maarri O, Becker T, Junen J, et al. Gender specific differences in levels of DNA methylation at selected loci from human total blood: a tendency toward higher methylation levels in males. Hum Genet 2007; 122(5): 505-514.
    • (2007) Hum Genet , vol.122 , Issue.5 , pp. 505-514
    • El-Maarri, O.1    Becker, T.2    Junen, J.3
  • 76
    • 59749088105 scopus 로고    scopus 로고
    • Clinically distinct epigenetic subgroups in Silver Russell syndrome: The degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies
    • Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M. Clinically distinct epigenetic subgroups in Silver Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. J Clin Endocrinol Metab 2009; 94(2): 579-587.
    • (2009) J Clin Endocrinol Metab , vol.94 , Issue.2 , pp. 579-587
    • Bruce, S.1    Hannula-Jouppi, K.2    Peltonen, J.3    Kere, J.4    Lipsanen-Nyman, M.5
  • 77
    • 76949101194 scopus 로고    scopus 로고
    • Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b
    • Alsum Z, Abu Safieh L, Nygren AO, Al-Hamed MA, Alkuraya FS. Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. Genet Test Mol Biomarkers 2010; 14(1): 135-139.
    • (2010) Genet Test Mol Biomarkers , vol.14 , Issue.1 , pp. 135-139
    • Alsum, Z.1    Abu, S.L.2    Nygren, A.O.3    Al-Hamed, M.A.4    Alkuraya, F.S.5
  • 78
    • 27644548948 scopus 로고    scopus 로고
    • Quantitative highthroughput analysis of DNA methylation patterns by basespecific cleavage and mass spectrometry
    • Ehrich M, Nelson MR, Stanssens P, et al. Quantitative highthroughput analysis of DNA methylation patterns by basespecific cleavage and mass spectrometry. Proc Natl Acad Sci USA 2005; 102(44): 15785-15790.
    • (2005) Proc Natl Acad Sci USA , vol.102 , Issue.44 , pp. 15785-15790
    • Ehrich, M.1    Nelson, M.R.2    Stanssens, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.