메뉴 건너뛰기




Volumn 13, Issue 3, 2015, Pages 146-158

GNAS Spectrum of Disorders

Author keywords

Alpha subunit of the stimulatory G protein; GNAS; Gs ; Pseudohypoparathyroidism

Indexed keywords

CHROMOGRANIN; GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

EID: 84937760439     PISSN: 15441873     EISSN: 15442241     Source Type: Journal    
DOI: 10.1007/s11914-015-0268-x     Document Type: Review
Times cited : (147)

References (132)
  • 1
    • 0342382485 scopus 로고
    • Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human
    • COI: 1:CAS:528:DyaL1cXmtVKitrc%3D, PID: 2902634
    • Blatt C, Eversole-Cire P, Cohn VH, et al. Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. Proc Natl Acad Sci U S A. 1988;85:7642–46.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , pp. 7642-7646
    • Blatt, C.1    Eversole-Cire, P.2    Cohn, V.H.3
  • 2
    • 0028670789 scopus 로고
    • XL alpha s is a new type of G protein
    • COI: 1:CAS:528:DyaK2MXivVSjs78%3D, PID: 7997272
    • Kehlenbach RH, Matthey J, Huttner WB. XL alpha s is a new type of G protein. Nature. 1994;372:804–9.
    • (1994) Nature , vol.372 , pp. 804-809
    • Kehlenbach, R.H.1    Matthey, J.2    Huttner, W.B.3
  • 3
    • 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
    • COI: 1:CAS:528:DyaK2sXjtValsLw%3D, PID: 9111083
    • Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, et al. Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity. J Biol Chem. 1997;272:11657–62.
    • (1997) J Biol Chem , vol.272 , pp. 11657-11662
    • Ischia, R.1    Lovisetti-Scamihorn, P.2    Hogue-Angeletti, R.3
  • 5
    • 0025814814 scopus 로고
    • Differential expression of novel Gs alpha signal transduction protein cDNA species
    • COI: 1:CAS:528:DyaK3MXmslaisbg%3D, PID: 1716359
    • Swaroop A, Agarwal N, Gruen JR, et al. Differential expression of novel Gs alpha signal transduction protein cDNA species. Nucleic Acids Res. 1991;19:4725–29.
    • (1991) Nucleic Acids Res , vol.19 , pp. 4725-4729
    • Swaroop, A.1    Agarwal, N.2    Gruen, J.R.3
  • 6
    • 80053178756 scopus 로고    scopus 로고
    • Parathyroid hormone signaling via Gαs is selectively inhibited by an NH2-terminally truncated Gαs: implications for pseudohypoparathyroidism
    • COI: 1:CAS:528:DC%2BC3MXht1yitLbL, PID: 21713996
    • Puzhko S, Goodyer C, Kerachian M, et al. Parathyroid hormone signaling via Gαs is selectively inhibited by an NH2-terminally truncated Gαs: implications for pseudohypoparathyroidism. J Bone Miner Res. 2011;26:2473–85.
    • (2011) J Bone Miner Res , vol.26 , pp. 2473-2485
    • Puzhko, S.1    Goodyer, C.2    Kerachian, M.3
  • 7
    • 0034701294 scopus 로고    scopus 로고
    • An imprinted antisense transcript at the human GNAS1 locus
    • COI: 1:CAS:528:DC%2BD3cXitlaisLo%3D, PID: 10749992
    • Hayward B, Bonthron D. An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet. 2000;9:835–41.
    • (2000) Hum Mol Genet , vol.9 , pp. 835-841
    • Hayward, B.1    Bonthron, D.2
  • 8
    • 0034724290 scopus 로고    scopus 로고
    • An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus
    • COI: 1:CAS:528:DC%2BD3cXitlWqsbY%3D, PID: 10716699
    • 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 U S A. 2000;97:3342–6.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 3342-3346
    • Wroe, S.F.1    Kelsey, G.2    Skinner, J.A.3
  • 9
    • 84887196442 scopus 로고    scopus 로고
    • Feb 1;6(2). pii: a018382
    • Barlow DP, Bartolomei MS. Genomic imprinting in mammals. Cold Spring Harb Perspect Biol. 2014 Feb 1;6(2). pii: a018382. doi: 10.1101/cshperspect.a018382.
    • (2014) doi: 10.1101/cshperspect.a018382
    • Barlow, D.P.1
  • 10
    • 41549118947 scopus 로고    scopus 로고
    • The GNAS locus: quintessential complex gene encoding Gsalpha, XLalphas, and other imprinted transcripts
    • COI: 1:CAS:528:DC%2BD1cXitF2ktbw%3D, PID: 19412439
    • Bastepe M. The GNAS locus: quintessential complex gene encoding Gsalpha, XLalphas, and other imprinted transcripts. Curr Genomics. 2007;8:398–414.
    • (2007) Curr Genomics , vol.8 , pp. 398-414
    • Bastepe, M.1
  • 11
    • 42449088201 scopus 로고    scopus 로고
    • Control of imprinting at the Gnas cluster
    • COI: 1:CAS:528:DC%2BC3cXhtlKgsLfL, PID: 18372788
    • Peters J, Williamson CM. Control of imprinting at the Gnas cluster. Adv Exp Med Biol. 2008;626:16–26.
    • (2008) Adv Exp Med Biol , vol.626 , pp. 16-26
    • Peters, J.1    Williamson, C.M.2
  • 12
    • 39749100503 scopus 로고    scopus 로고
    • Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse
    • COI: 1:CAS:528:DC%2BD1cXivVaisrs%3D, PID: 18252944
    • Plagge A, Kelsey G, Germain-Lee EL. Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. J Endocrinol. 2008;196:193–214.
    • (2008) J Endocrinol , vol.196 , pp. 193-214
    • Plagge, A.1    Kelsey, G.2    Germain-Lee, E.L.3
  • 13
    • 0032544019 scopus 로고    scopus 로고
    • The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
    • COI: 1:CAS:528:DyaK1cXlsFWisL8%3D, PID: 9707596
    • 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 U S A. 1998;95:10038–43.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 10038-10043
    • Hayward, B.E.1    Kamiya, M.2    Strain, L.3
  • 14
    • 0032433682 scopus 로고    scopus 로고
    • Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
    • COI: 1:CAS:528:DyaK1MXhvFarsQ%3D%3D, PID: 9860993
    • Hayward BE, Moran V, Strain L, et al. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci U S A. 1998;95:15475–80.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 15475-15480
    • Hayward, B.E.1    Moran, V.2    Strain, L.3
  • 15
    • 0032555241 scopus 로고    scopus 로고
    • Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene
    • COI: 1:CAS:528:DyaK1cXkvFalsLo%3D, PID: 9671744
    • Yu S, Yu D, Lee E, Eckhaus M, et al. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc Natl Acad Sci U S A. 1998;95:8715–20.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 8715-8720
    • Yu, S.1    Yu, D.2    Lee, E.3    Eckhaus, M.4
  • 16
    • 3543006557 scopus 로고    scopus 로고
    • A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas
    • COI: 1:CAS:528:DC%2BD2cXmtVOis70%3D, PID: 15273687
    • Williamson CM, Ball ST, Nottingham WT, et al. A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat Genet. 2004;36:894–9.
    • (2004) Nat Genet , vol.36 , pp. 894-899
    • Williamson, C.M.1    Ball, S.T.2    Nottingham, W.T.3
  • 17
    • 0036771614 scopus 로고    scopus 로고
    • The Gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads
    • COI: 1:CAS:528:DC%2BD38XnvFCrsbY%3D, PID: 12364467
    • Mantovani G, Ballare E, Giammona E, et al. The Gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab. 2002;87:4736–40.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4736-4740
    • Mantovani, G.1    Ballare, E.2    Giammona, E.3
  • 18
    • 0035982094 scopus 로고    scopus 로고
    • Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
    • COI: 1:CAS:528:DC%2BD38XlvVSitr8%3D, PID: 12147228
    • 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;296:67–72.
    • (2002) Biochem Biophys Res Commun , vol.296 , pp. 67-72
    • Germain-Lee, E.L.1    Ding, C.L.2    Deng, Z.3
  • 19
    • 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
    • COI: 1:CAS:528:DC%2BD3sXntlags7c%3D
    • 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 Metabol. 2003;88:4336–41.
    • (2003) J Clin Endocrinol Metabol , vol.88 , pp. 4336-4341
    • Liu, J.1    Erlichman, B.2    Weinstein, L.S.3
  • 20
    • 66049136160 scopus 로고    scopus 로고
    • Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation
    • PID: 19490909
    • Chen M, Wang J, Dickerson KE, et al. Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation. Cell Metab. 2009;9:548–55.
    • (2009) Cell Metab , vol.9 , pp. 548-555
    • Chen, M.1    Wang, J.2    Dickerson, K.E.3
  • 21
    • 0035106246 scopus 로고    scopus 로고
    • Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly
    • COI: 1:CAS:528:DC%2BD3MXitVGnsL0%3D, PID: 11254676
    • Hayward B, Barlier A, Korbonits M, et al. Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest. 2001;107:R31–6.
    • (2001) J Clin Invest , vol.107 , pp. 31-36
    • Hayward, B.1    Barlier, A.2    Korbonits, M.3
  • 22
    • 0347949548 scopus 로고    scopus 로고
    • Insights into G protein structure, function, and regulation
    • COI: 1:CAS:528:DC%2BD2cXltVegsg%3D%3D, PID: 14671004
    • Cabrera-Vera TM, Vanhauwe J, Thomas TO, et al. Insights into G protein structure, function, and regulation. Endocr Rev. 2003;24:765–81.
    • (2003) Endocr Rev , vol.24 , pp. 765-781
    • Cabrera-Vera, T.M.1    Vanhauwe, J.2    Thomas, T.O.3
  • 23
    • 34347357654 scopus 로고    scopus 로고
    • Assembly and trafficking of heterotrimeric G proteins
    • COI: 1:CAS:528:DC%2BD2sXmtlGgs78%3D, PID: 17559193
    • Marrari Y, Crouthamel M, Irannejad R, et al. Assembly and trafficking of heterotrimeric G proteins. Biochemistry. 2007;46:7665–77.
    • (2007) Biochemistry , vol.46 , pp. 7665-7677
    • Marrari, Y.1    Crouthamel, M.2    Irannejad, R.3
  • 24
    • 0000821313 scopus 로고
    • Pseudohypoparathyroidism—an example of ‘Seabright-Bantam syndrome’
    • COI: 1:CAS:528:DyaH38XjtlGqtA%3D%3D
    • Albright F, Burnett CH, Smith PH, et al. Pseudohypoparathyroidism—an example of ‘Seabright-Bantam syndrome’. Endocrinology. 1942;30:922–32.
    • (1942) Endocrinology , vol.30 , pp. 922-932
    • Albright, F.1    Burnett, C.H.2    Smith, P.H.3
  • 25
    • 0014593627 scopus 로고
    • Pseudohypoparathyroidism: defective excretion of 3’,5’-AMP in response to parathyroid hormone
    • COI: 1:CAS:528:DyaF1MXlt1WmtL8%3D, PID: 4309802
    • Chase LR, Melson GL, Aurbach GD. Pseudohypoparathyroidism: defective excretion of 3’,5’-AMP in response to parathyroid hormone. J Clin Invest. 1969;48:1832–44.
    • (1969) J Clin Invest , vol.48 , pp. 1832-1844
    • Chase, L.R.1    Melson, G.L.2    Aurbach, G.D.3
  • 26
    • 0015926365 scopus 로고
    • Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal
    • COI: 1:STN:280:DyaE2c%2FgsVCjtQ%3D%3D, PID: 4355058
    • Drezner M, Neelon FA, Lebovitz HE. Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal. N Engl J Med. 1973;289:1056–60.
    • (1973) N Engl J Med , vol.289 , pp. 1056-1060
    • Drezner, M.1    Neelon, F.A.2    Lebovitz, H.E.3
  • 27
    • 0005371412 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism
    • Bilezikian JP, Raisz LG, Rodan GA, (eds), Academic, New York:
    • Levine MA. Pseudohypoparathyroidism. In: Bilezikian JP, Raisz LG, Rodan GA, editors. Principles of bone biology. New York: Academic; 2002. p. 1137–63.
    • (2002) Principles of bone biology , pp. 1137-1163
    • Levine, M.A.1
  • 28
    • 0034793851 scopus 로고    scopus 로고
    • Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting
    • COI: 1:CAS:528:DC%2BD3MXotVWmu7Y%3D, PID: 11588148
    • Weinstein LS, Yu S, Warner DR, et al. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev. 2001;22:675–705.
    • (2001) Endocr Rev , vol.22 , pp. 675-705
    • Weinstein, L.S.1    Yu, S.2    Warner, D.R.3
  • 29
    • 33751399421 scopus 로고    scopus 로고
    • Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series
    • PID: 17137912
    • Gelfand IM, Eugster EA, DiMeglio LA. Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series. J Pediatr. 2006;149:877–80.
    • (2006) J Pediatr , vol.149 , pp. 877-880
    • Gelfand, I.M.1    Eugster, E.A.2    DiMeglio, L.A.3
  • 31
    • 0027399429 scopus 로고
    • Imprinting in Albright’s hereditary osteodystrophy
    • COI: 1:STN:280:DyaK3s7osl2ksg%3D%3D, PID: 8383205
    • Davies AJ, Hughes HE. Imprinting in Albright’s hereditary osteodystrophy. J Med Genet. 1993;30:101–3.
    • (1993) J Med Genet , vol.30 , pp. 101-103
    • Davies, A.J.1    Hughes, H.E.2
  • 32
    • 0028143011 scopus 로고
    • Parental origin of Gsα gene mutations in Albright’s hereditary osteodystrophy
    • COI: 1:CAS:528:DyaK2MXitlGqtLk%3D, PID: 7853365
    • Wilson LC, Oude-Luttikhuis MEM, Clayton PT, et al. Parental origin of Gsα gene mutations in Albright’s hereditary osteodystrophy. J Med Genet. 1994;31:835–9.
    • (1994) J Med Genet , vol.31 , pp. 835-839
    • Wilson, L.C.1    Oude-Luttikhuis, M.E.M.2    Clayton, P.T.3
  • 33
    • 0022631589 scopus 로고
    • Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide- binding stimulatory protein-deficient pseudohypoparathyroidism
    • COI: 1:STN:280:DyaL28%2FlvF2msQ%3D%3D, PID: 2999179
    • Moses AM, Weinstock RS, Levine MA, et al. Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide- binding stimulatory protein-deficient pseudohypoparathyroidism. J Clin Endocrinol Metab. 1986;62:221–4.
    • (1986) J Clin Endocrinol Metab , vol.62 , pp. 221-224
    • Moses, A.M.1    Weinstock, R.S.2    Levine, M.A.3
  • 34
    • 84919884363 scopus 로고    scopus 로고
    • Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS
    • Turan S, Thiele S, Tafaj O, et al. Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS. Bone. 02/2015; 71. doi: 10.1016/j.bone.2014.10.006.
    • Bone. 02/2015; 71. doi: 10.1016/j.bone.2014 , vol.10 , pp. 006
    • Turan, S.1    Thiele, S.2    Tafaj, O.3
  • 35
    • 84864148246 scopus 로고    scopus 로고
    • Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism
    • COI: 1:STN:280:DC%2BC38vhvVWqug%3D%3D, PID: 22299648
    • Lau K, Willig RP, Hiort O, et al. Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism. Clin Exp Dermatol. 2012;37:646–8.
    • (2012) Clin Exp Dermatol , vol.37 , pp. 646-648
    • Lau, K.1    Willig, R.P.2    Hiort, O.3
  • 36
    • 77954491911 scopus 로고    scopus 로고
    • Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans
    • COI: 1:CAS:528:DC%2BC3cXnvVaktLo%3D, PID: 20427508
    • Lebrun M, Richard N, Abeguilé G, et al. Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans. J Clin Endocrinol Metab. 2010;95:3028–38.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 3028-3038
    • Lebrun, M.1    Richard, N.2    Abeguilé, G.3
  • 37
    • 0028014560 scopus 로고
    • Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting
    • COI: 1:STN:280:DyaK2c3gt1WmsA%3D%3D, PID: 8151649
    • Schuster V, Kress W, Kruse K. Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting. J Med Genet. 1994;31:84.
    • (1994) J Med Genet , vol.31 , pp. 84
    • Schuster, V.1    Kress, W.2    Kruse, K.3
  • 38
    • 0037159459 scopus 로고    scopus 로고
    • Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy
    • PID: 12407707
    • Aldred MA, Aftimos S, Hall C, et al. Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy. Am J Med Genet. 2002;113:167–72.
    • (2002) Am J Med Genet , vol.113 , pp. 167-172
    • Aldred, M.A.1    Aftimos, S.2    Hall, C.3
  • 39
    • 79958202432 scopus 로고    scopus 로고
    • Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism
    • PID: 21605097
    • Ward S, Sugo E, Verge CF, et al. Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism. Australas J Dermatol. 2011;52:127–31.
    • (2011) Australas J Dermatol , vol.52 , pp. 127-131
    • Ward, S.1    Sugo, E.2    Verge, C.F.3
  • 40
    • 84894460206 scopus 로고    scopus 로고
    • Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption
    • COI: 1:CAS:528:DC%2BC2cXjt1Sgt7o%3D, PID: 23956044, In this experimental mice study, the authors showed that Gsα silencing in proximal renal tubule is established gradually after birth, and that PTH resistance in pseudohypoparathyroidism type-Ia develops mostly after infancy
    • Turan S, Fernandez-Rebollo E, Aydin C, et al. Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption. J Bone Miner Res. 2014;29:749–60. In this experimental mice study, the authors showed that Gsα silencing in proximal renal tubule is established gradually after birth, and that PTH resistance in pseudohypoparathyroidism type-Ia develops mostly after infancy.
    • (2014) J Bone Miner Res , vol.29 , pp. 749-760
    • Turan, S.1    Fernandez-Rebollo, E.2    Aydin, C.3
  • 41
    • 10344231982 scopus 로고    scopus 로고
    • Biallelic expression of the Gsalpha gene in human bone and adipose tissue
    • COI: 1:CAS:528:DC%2BD2cXhtFSit7rN, PID: 15579796
    • Mantovani G, Bondioni S, Locatelli M, et al. Biallelic expression of the Gsalpha gene in human bone and adipose tissue. J Clin Endocrinol Metab. 2004;89:6316–19.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 6316-6319
    • Mantovani, G.1    Bondioni, S.2    Locatelli, M.3
  • 42
    • 6944221426 scopus 로고    scopus 로고
    • Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo
    • COI: 1:CAS:528:DC%2BD2cXovVyju70%3D, PID: 15459318
    • Bastepe M, Weinstein LS, Ogata N, et al. Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci U S A. 2004;101:14794–9.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 14794-14799
    • Bastepe, M.1    Weinstein, L.S.2    Ogata, N.3
  • 43
    • 38049169578 scopus 로고    scopus 로고
    • Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha
    • COI: 1:CAS:528:DC%2BD1cXjsFemt70%3D
    • Mouallem M, Shaharabany M, Weintrob N, et al. Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. Clin Endocrinol (Oxf). 2008;68:233–9.
    • (2008) Clin Endocrinol (Oxf) , vol.68 , pp. 233-239
    • Mouallem, M.1    Shaharabany, M.2    Weintrob, N.3
  • 44
    • 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
    • COI: 1:CAS:528:DC%2BD2sXjtlGms7s%3D, PID: 17164301
    • Long DN, McGuire S, Levine MA, et al. 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;92:1073–9.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 1073-1079
    • Long, D.N.1    McGuire, S.2    Levine, M.A.3
  • 45
    • 84883716860 scopus 로고    scopus 로고
    • Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development
    • COI: 1:CAS:528:DC%2BC3sXhsV2isbbO, PID: 23884777, This paper showed that paternal GNAS mutations cause intra uterine growth retardation and that this phenotype is likely related to the deficiency of the paternally expressed GNAS product XLαs
    • Richard N, Molin A, Coudray N, et al. Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development. J Clin Endocrinol Metab. 2013;98:E1549–56. This paper showed that paternal GNAS mutations cause intra uterine growth retardation and that this phenotype is likely related to the deficiency of the paternally expressed GNAS product XLαs.
    • (2013) J Clin Endocrinol Metab , vol.98 , pp. 1549-1556
    • Richard, N.1    Molin, A.2    Coudray, N.3
  • 46
    • 3543036987 scopus 로고    scopus 로고
    • The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding
    • COI: 1:CAS:528:DC%2BD2cXmtVOis7w%3D, PID: 15273686
    • Plagge A, Gordon E, Dean W, et al. The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding. Nat Genet. 2004;36:818–26.
    • (2004) Nat Genet , vol.36 , pp. 818-826
    • Plagge, A.1    Gordon, E.2    Dean, W.3
  • 48
    • 84905833739 scopus 로고    scopus 로고
    • Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders
    • COI: 1:CAS:528:DC%2BC2cXhsVSnsr%2FJ, PID: 24878042
    • Brix B, Werner R, Staedt P, et al. Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders. J Clin Endocrinol Metab. 2014;99:E1564–70.
    • (2014) J Clin Endocrinol Metab , vol.99 , pp. 1564-1570
    • Brix, B.1    Werner, R.2    Staedt, P.3
  • 49
    • 0020579521 scopus 로고
    • Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. a cause of impaired synthesis of 3',5'-cyclic AMP by intact and broken cells
    • COI: 1:CAS:528:DyaL3sXkvVKjtbc%3D, PID: 6308048
    • Levine MA, Eil C, Downs Jr RW, et al. Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. a cause of impaired synthesis of 3',5'-cyclic AMP by intact and broken cells. J Clin Invest. 1983;72:316–24.
    • (1983) J Clin Invest , vol.72 , pp. 316-324
    • Levine, M.A.1    Eil, C.2    Downs, R.W.3
  • 50
    • 0018904371 scopus 로고
    • Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism
    • COI: 1:CAS:528:DyaL3cXkvFejsbg%3D, PID: 6247654
    • Farfel Z, Brickman AS, Kaslow HR, et al. Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism. N Engl J Med. 1980;303:237–42.
    • (1980) N Engl J Med , vol.303 , pp. 237-242
    • Farfel, Z.1    Brickman, A.S.2    Kaslow, H.R.3
  • 51
    • 57349170190 scopus 로고    scopus 로고
    • Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state
    • COI: 1:CAS:528:DC%2BD1cXhsVyqtbjO, PID: 18796523
    • Freson K, Izzi B, Jaeken J, et al. Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state. J Clin Endocrinol Metab. 2008;93:4844–9.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 4844-4849
    • Freson, K.1    Izzi, B.2    Jaeken, J.3
  • 52
    • 26844542000 scopus 로고    scopus 로고
    • A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of Exon 1 of the Gnas Gene
    • COI: 1:CAS:528:DC%2BD2MXhtFGqur%2FO, PID: 16099856
    • Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel LS, Wand G, et al. A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of Exon 1 of the Gnas Gene. Endocrinology. 2005;146:4697–709.
    • (2005) Endocrinology , vol.146 , pp. 4697-4709
    • Germain-Lee, E.L.1    Schwindinger, W.2    Crane, J.L.3    Zewdu, R.4    Zweifel, L.S.5    Wand, G.6
  • 53
    • 21044439497 scopus 로고    scopus 로고
    • Alternative Gnas gene products have opposite effects on glucose and lipid metabolism
    • COI: 1:CAS:528:DC%2BD2MXks12ntr0%3D, PID: 15883378
    • Chen M, Gavrilova O, Liu J, Xie T, Deng C, Nguyen AT, et al. Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. Proc Natl Acad Sci U S A. 2005;102:7386–91.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 7386-7391
    • Chen, M.1    Gavrilova, O.2    Liu, J.3    Xie, T.4    Deng, C.5    Nguyen, A.T.6
  • 54
    • 0036148298 scopus 로고    scopus 로고
    • GNAS1 Lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance
    • COI: 1:CAS:528:DC%2BD38XntVynuw%3D%3D, PID: 11788646
    • Linglart A, Carel JC, Garabedian M, et al. GNAS1 Lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab. 2002;87:189–97.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 189-197
    • Linglart, A.1    Carel, J.C.2    Garabedian, M.3
  • 55
    • 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 Gsα-receptor interaction
    • COI: 1:CAS:528:DC%2BC3MXmsVyhsbw%3D, PID: 21488135
    • 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 Gsα-receptor interaction. Hum Mutat. 2011;32:653–60.
    • (2011) Hum Mutat , vol.32 , pp. 653-660
    • Thiele, S.1    de Sanctis, L.2    Werner, R.3
  • 56
    • 0027956207 scopus 로고
    • Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function
    • COI: 1:STN:280:DyaK2czlt1CisQ%3D%3D, PID: 8072545
    • Iiri T, Herzmark P, Nakamoto JM, et al. Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function. Nature. 1994;371:164–8.
    • (1994) Nature , vol.371 , pp. 164-168
    • Iiri, T.1    Herzmark, P.2    Nakamoto, J.M.3
  • 57
    • 0030175827 scopus 로고    scopus 로고
    • Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene
    • COI: 1:CAS:528:DyaK28XjvFyktL4%3D, PID: 8809352
    • Nakamoto JM, Zimmerman D, Jones EA, et al. Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. Biochem Mol Med. 1996;58:18–24.
    • (1996) Biochem Mol Med , vol.58 , pp. 18-24
    • Nakamoto, J.M.1    Zimmerman, D.2    Jones, E.A.3
  • 58
    • 36849054256 scopus 로고    scopus 로고
    • Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle
    • COI: 1:CAS:528:DC%2BD2sXht1ymtrbN, PID: 17962410
    • Makita N, Sato J, Rondard P, et al. Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. Proc Natl Acad Sci U S A. 2007;104:17424–9.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 17424-17429
    • Makita, N.1    Sato, J.2    Rondard, P.3
  • 59
    • 0028348430 scopus 로고
    • Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported Cases
    • COI: 1:STN:280:DyaK2c7ntFylsA%3D%3D, PID: 8126048
    • Kaplan FS, Craver R, MacEwen GD, et al. Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported Cases. J Bone Joint Surg Am. 1994;76:425–36.
    • (1994) J Bone Joint Surg Am , vol.76 , pp. 425-436
    • Kaplan, F.S.1    Craver, R.2    MacEwen, G.D.3
  • 60
    • 0037050365 scopus 로고    scopus 로고
    • Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
    • COI: 1:CAS:528:DC%2BD38Xkt1Oltg%3D%3D, PID: 11784876
    • Shore EM, Ahn J, Jan de Beur S, et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med. 2002;346:99–106.
    • (2002) N Engl J Med , vol.346 , pp. 99-106
    • Shore, E.M.1    Ahn, J.2    Jan de Beur, S.3
  • 61
    • 84881255549 scopus 로고    scopus 로고
    • Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia
    • COI: 1:CAS:528:DC%2BC3sXht1OgtbbL, PID: 23863715, The data from this study implicated that severe disruption of Gsα leads to progressive osseous heteroplasia (POH) and that somatic second hit mutations in addition to germline GNAS mutations could lead to POH, thus explaining the phenotypic heterogeneity of heterozygous GNAS mutations
    • Cairns DM, Pignolo RJ, Uchimura T, et al. Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia. J Clin Invest. 2013;123:3624–33. The data from this study implicated that severe disruption of Gsα leads to progressive osseous heteroplasia (POH) and that somatic second hit mutations in addition to germline GNAS mutations could lead to POH, thus explaining the phenotypic heterogeneity of heterozygous GNAS mutations.
    • (2013) J Clin Invest , vol.123 , pp. 3624-3633
    • Cairns, D.M.1    Pignolo, R.J.2    Uchimura, T.3
  • 62
    • 84887420723 scopus 로고    scopus 로고
    • Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification
    • COI: 1:CAS:528:DC%2BC3sXhsFaktrbN, PID: 24076664, In this paper, it was shown that Hedgehog signaling is upregulated in progressive osseous heteroplasia, which is a result of Gsα deficiency caused by inactivating GNAS mutations. Additionally, genetically-mediated ectopic Hedgehog signaling is sufficient to induce heterotopic ossification in animal models, and the genetic or pharmacological inhibition of this signaling pathway reduces the severity of ectopic ossification
    • Regard JB, Malhotra D, Gvozdenovic-Jeremic J, et al. Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification. Nat Med. 2013;19:1505–12. In this paper, it was shown that Hedgehog signaling is upregulated in progressive osseous heteroplasia, which is a result of Gsα deficiency caused by inactivating GNAS mutations. Additionally, genetically-mediated ectopic Hedgehog signaling is sufficient to induce heterotopic ossification in animal models, and the genetic or pharmacological inhibition of this signaling pathway reduces the severity of ectopic ossification.
    • (2013) Nat Med , vol.19 , pp. 1505-1512
    • Regard, J.B.1    Malhotra, D.2    Gvozdenovic-Jeremic, J.3
  • 63
    • 0033762171 scopus 로고    scopus 로고
    • A GNAS1 imprinting defect in pseudohypoparathyroidism type IB
    • COI: 1:CAS:528:DC%2BD3cXnvFyquro%3D, PID: 11067869
    • Liu J, Litman D, Rosenberg MJ, et al. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest. 2000;106:1167–74.
    • (2000) J Clin Invest , vol.106 , pp. 1167-1174
    • Liu, J.1    Litman, D.2    Rosenberg, M.J.3
  • 64
    • 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
    • COI: 1:CAS:528:DC%2BD3MXkslSrtbk%3D, PID: 11406605
    • 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;10:1231–41.
    • (2001) Hum Mol Genet , vol.10 , pp. 1231-1241
    • Bastepe, M.1    Pincus, J.E.2    Sugimoto, T.3
  • 65
    • 34347217115 scopus 로고    scopus 로고
    • Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy
    • PID: 17405843
    • de Nanclares GP, Fernández-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;92:2370–3.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 2370-2373
    • de Nanclares, G.P.1    Fernández-Rebollo, E.2    Santin, I.3
  • 66
    • 40849106398 scopus 로고    scopus 로고
    • A maternal epimutation of GNAS leads to Albright osteodys-trophy and parathyroid hormone resistance
    • COI: 1:CAS:528:DC%2BD1cXjsFynt7k%3D, PID: 18182455
    • Mariot V, Maupetit-Mehouas S, Sinding C, et al. A maternal epimutation of GNAS leads to Albright osteodys-trophy and parathyroid hormone resistance. J Clin Endocrinol Metab. 2008;93:661–5.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 661-665
    • Mariot, V.1    Maupetit-Mehouas, S.2    Sinding, C.3
  • 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
    • PID: 18626245
    • Unluturk U, Harmanci A, Babaoglu M, et al. 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. 2008;336:84–90.
    • (2008) Am J Med Sci , vol.336 , pp. 84-90
    • Unluturk, U.1    Harmanci, A.2    Babaoglu, M.3
  • 68
    • 76149108406 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients
    • COI: 1:CAS:528:DC%2BC3cXitVais7w%3D, PID: 20061437
    • 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;95:651–8.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 651-658
    • Mantovani, G.1    de Sanctis, L.2    Barbieri, A.M.3
  • 69
    • 80052527442 scopus 로고    scopus 로고
    • Madelung-like deformity in pseudohypoparathyroidism type 1b
    • COI: 1:CAS:528:DC%2BC3MXht1SktLvI, PID: 21752878
    • Sanchez J, Perera E, Jan de Beur S, et al. Madelung-like deformity in pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab. 2011;96:E1507–11.
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. 1507-1511
    • Sanchez, J.1    Perera, E.2    Jan de Beur, S.3
  • 70
    • 79960640986 scopus 로고    scopus 로고
    • Gsα activity is reduced in erythrocyte membranes of patients with pseudohypoparathyroidism due to epigenetic alterations at the GNAS locus
    • COI: 1:CAS:528:DC%2BC3MXhtVejtL%2FJ, PID: 21351142
    • Zazo C, Thiele S, Martín C, et al. Gsα activity is reduced in erythrocyte membranes of patients with pseudohypoparathyroidism due to epigenetic alterations at the GNAS locus. J Bone Miner Res. 2011;26:1864–70.
    • (2011) J Bone Miner Res , vol.26 , pp. 1864-1870
    • Zazo, C.1    Thiele, S.2    Martín, C.3
  • 71
    • 13144250154 scopus 로고    scopus 로고
    • The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
    • PID: 9751745
    • Jüppner H, Schipani E, Bastepe M, et al. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A. 1998;95:11798–803.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 11798-11803
    • Jüppner, H.1    Schipani, E.2    Bastepe, M.3
  • 72
    • 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
    • COI: 1:CAS:528:DC%2BD3sXotlWisL0%3D, PID: 14561710
    • Bastepe M, Fröhlich 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;112:1255–63.
    • (2003) J Clin Invest , vol.112 , pp. 1255-1263
    • Bastepe, M.1    Fröhlich, L.F.2    Hendy, G.N.3
  • 73
    • 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
    • COI: 1:CAS:528:DC%2BD2MXjs12rtL4%3D, PID: 15800843
    • Linglart A, Gensure RC, Olney RC, et al. 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;76:804–14.
    • (2005) Am J Hum Genet , vol.76 , pp. 804-814
    • Linglart, A.1    Gensure, R.C.2    Olney, R.C.3
  • 74
    • 84898483058 scopus 로고    scopus 로고
    • Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR
    • COI: 1:CAS:528:DC%2BC2cXmtlertrs%3D, PID: 24438374
    • Elli FM, de Sanctis L, Peverelli E, et al. Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. J Clin Endocrinol Metab. 2014;99:E724–8.
    • (2014) J Clin Endocrinol Metab , vol.99 , pp. 724-728
    • Elli, F.M.1    de Sanctis, L.2    Peverelli, E.3
  • 75
    • 84860747783 scopus 로고    scopus 로고
    • A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib
    • COI: 1:CAS:528:DC%2BC38XntV2itLY%3D, PID: 22378814, A novel deletion of 18,988 bp that removes NESP55 and a large upstream intronic region was discovered in a familial case with PHP-Ib in which maternal transmission causes loss of A/B methylation without affecting XL/AS imprinting; paternal transmission of the same deletion leads to no methylation anomalies. Taken together with the previously reported deletions, these findings indicate that isolated loss of A/B methylation can be caused by distinct, non-overlapping deletions in the STX16-GNAS region
    • Richard N, Abeguilé G, Coudray N, et al. A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 2012;97:E863–7. A novel deletion of 18,988 bp that removes NESP55 and a large upstream intronic region was discovered in a familial case with PHP-Ib in which maternal transmission causes loss of A/B methylation without affecting XL/AS imprinting; paternal transmission of the same deletion leads to no methylation anomalies. Taken together with the previously reported deletions, these findings indicate that isolated loss of A/B methylation can be caused by distinct, non-overlapping deletions in the STX16-GNAS region.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 863-867
    • Richard, N.1    Abeguilé, G.2    Coudray, N.3
  • 76
    • 0032567655 scopus 로고    scopus 로고
    • Molecular cloning and localization of human syntaxin 16, a member of the syntaxin family of SNARE proteins
    • COI: 1:CAS:528:DyaK1cXot1Oksw%3D%3D, PID: 9464276
    • Tang BL, Low DY, Lee SS, et al. Molecular cloning and localization of human syntaxin 16, a member of the syntaxin family of SNARE proteins. Biochem Biophys Res Commun. 1998;242:673–9.
    • (1998) Biochem Biophys Res Commun , vol.242 , pp. 673-679
    • Tang, B.L.1    Low, D.Y.2    Lee, S.S.3
  • 77
    • 34250849292 scopus 로고    scopus 로고
    • Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16
    • PID: 17317779
    • Fröhlich LF, Bastepe M, Ozturk D, et al. Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. Endocrinology. 2007;148:2925–35.
    • (2007) Endocrinology , vol.148 , pp. 2925-2935
    • Fröhlich, L.F.1    Bastepe, M.2    Ozturk, D.3
  • 78
    • 11244353640 scopus 로고    scopus 로고
    • Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
    • COI: 1:CAS:528:DC%2BD2cXhtFChsLzP, PID: 15592469
    • Bastepe M, Fröhlich LF, Linglart A, et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet. 2005;37:25–7.
    • (2005) Nat Genet , vol.37 , pp. 25-27
    • Bastepe, M.1    Fröhlich, L.F.2    Linglart, A.3
  • 79
    • 77955387253 scopus 로고    scopus 로고
    • Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis
    • COI: 1:CAS:528:DC%2BC3cXhtVGkt77I, PID: 20444925
    • Chillambhi S, Turan S, Hwang DY, et al. Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis. J Clin Endocrinol Metab. 2010;95:3993–4002.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 3993-4002
    • Chillambhi, S.1    Turan, S.2    Hwang, D.Y.3
  • 80
    • 77952701277 scopus 로고    scopus 로고
    • Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib
    • PID: 20427744
    • Fröhlich LF, Mrakovcic M, Steinborn R, et al. Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib. Proc Natl Acad Sci U S A. 2010;107:9275–80.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 9275-9280
    • Fröhlich, L.F.1    Mrakovcic, M.2    Steinborn, R.3
  • 81
    • 84860132449 scopus 로고    scopus 로고
    • Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib
    • PID: 22496590, By showing improved survival upon normalization of XLαs expression, this study proved that the biallelic expression of XLαs is responsible for the early postnatal lethality in mice with deletion of the Nesp55 DMR. Surviving double-mutant animals had significantly reduced Gsα mRNA levels and showed hypocalcemia, hyperphosphatemia, and elevated PTH levels, thus providing a viable model of human AD-PHP-Ib
    • Fernández-Rebollo E, Maeda A, Reyes M, et al. Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib. Proc Natl Acad Sci U S A. 2012;109:6638–43. By showing improved survival upon normalization of XLαs expression, this study proved that the biallelic expression of XLαs is responsible for the early postnatal lethality in mice with deletion of the Nesp55 DMR. Surviving double-mutant animals had significantly reduced Gsα mRNA levels and showed hypocalcemia, hyperphosphatemia, and elevated PTH levels, thus providing a viable model of human AD-PHP-Ib.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 6638-6643
    • Fernández-Rebollo, E.1    Maeda, A.2    Reyes, M.3
  • 82
    • 58149506281 scopus 로고    scopus 로고
    • Transcription is required for establishment of germline methylation marks at imprinted genes
    • COI: 1:CAS:528:DC%2BD1MXptFWluw%3D%3D, PID: 19136628
    • Chotalia M, Smallwood SA, Ruf N, et al. Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev. 2009;23:105–17.
    • (2009) Genes Dev , vol.23 , pp. 105-117
    • Chotalia, M.1    Smallwood, S.A.2    Ruf, N.3
  • 83
    • 33644617486 scopus 로고    scopus 로고
    • Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster
    • COI: 1:CAS:528:DC%2BD28XhslCjtr8%3D, PID: 16462745
    • Williamson CM, Turner MD, Ball ST, et al. Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster. Nat Genet. 2006;38:350–5.
    • (2006) Nat Genet , vol.38 , pp. 350-355
    • Williamson, C.M.1    Turner, M.D.2    Ball, S.T.3
  • 84
    • 84857169585 scopus 로고    scopus 로고
    • New mutations at the imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism but not in suckling
    • COI: 1:CAS:528:DC%2BC38XjtV2isrw%3D, PID: 22215617, This paper showed that the loss of ALEX is most likely responsible for the suckling defects in XLαs knockout pups. Additionally, increased metabolic rate and reductions in fat mass, leptin, and bone mineral density were attributed to the loss of XLαs. Moreover, the authors terminated the A/B transcript prematurely and thereby provided evidence that the tissue-specific paternal Gsα silencing results from transcriptional interference from the upstream A/B transcript
    • Eaton SA, Williamson CM, Ball ST, et al. New mutations at the imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism but not in suckling. Mol Cell Biol. 2012;32:1017–29. This paper showed that the loss of ALEX is most likely responsible for the suckling defects in XLαs knockout pups. Additionally, increased metabolic rate and reductions in fat mass, leptin, and bone mineral density were attributed to the loss of XLαs. Moreover, the authors terminated the A/B transcript prematurely and thereby provided evidence that the tissue-specific paternal Gsα silencing results from transcriptional interference from the upstream A/B transcript.
    • (2012) Mol Cell Biol , vol.32 , pp. 1017-1029
    • Eaton, S.A.1    Williamson, C.M.2    Ball, S.T.3
  • 85
    • 12344293383 scopus 로고    scopus 로고
    • Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
    • COI: 1:CAS:528:DC%2BD2MXitFGmug%3D%3D, PID: 15537666
    • Liu J, Nealon JG, Weinstein LS. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet. 2005;14:95–102.
    • (2005) Hum Mol Genet , vol.14 , pp. 95-102
    • Liu, J.1    Nealon, J.G.2    Weinstein, L.S.3
  • 86
    • 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
    • COI: 1:CAS:528:DC%2BD1cXitVylsg%3D%3D
    • Linglart A, Bastepe M, Jüppner 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):822–31.
    • (2007) Clin Endocrinol (Oxf) , vol.67 , Issue.6 , pp. 822-831
    • Linglart, A.1    Bastepe, M.2    Jüppner, H.3
  • 87
    • 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?
    • PID: 21523828
    • Fernández-Rebollo E, Pérez 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;26:1854–63.
    • (2011) J Bone Miner Res , vol.26 , pp. 1854-1863
    • Fernández-Rebollo, E.1    Pérez de Nanclares, G.2    Lecumberri, B.3
  • 88
    • 0035013623 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of chromosome 20q—and the resulting changes in GNAS1 methylation—as a plausible cause of pseudohypoparathyroidism
    • COI: 1:CAS:528:DC%2BD3MXkvF2nu7s%3D, PID: 11294659
    • Bastepe M, Lane AH, Jüppner 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;68:1283–9.
    • (2001) Am J Hum Genet , vol.68 , pp. 1283-1289
    • Bastepe, M.1    Lane, A.H.2    Jüppner, H.3
  • 89
    • 79751531725 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)
    • COI: 1:CAS:528:DC%2BC3MXhvFWgu7g%3D, PID: 20965295
    • Bastepe M, Altug-Teber O, Agarwal C, et al. Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone. 2011;48:659–62.
    • (2011) Bone , vol.48 , pp. 659-662
    • Bastepe, M.1    Altug-Teber, O.2    Agarwal, C.3
  • 90
    • 78649826845 scopus 로고    scopus 로고
    • New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
    • PID: 20837711
    • Fernández-Rebollo E, Lecumberri B, Garin I, et al. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism. Eur J Endocrinol. 2010;163:953–62.
    • (2010) Eur J Endocrinol , vol.163 , pp. 953-962
    • Fernández-Rebollo, E.1    Lecumberri, B.2    Garin, I.3
  • 91
    • 84872058040 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q
    • COI: 1:CAS:528:DC%2BC3sXpsVyjsg%3D%3D, PID: 23144470
    • Dixit A, Chandler KE, Lever M, et al. Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. J Clin Endocrinol Metab. 2013;98:E103–8.
    • (2013) J Clin Endocrinol Metab , vol.98 , pp. 103-108
    • Dixit, A.1    Chandler, K.E.2    Lever, M.3
  • 92
    • 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
    • COI: 1:CAS:528:DC%2BC3cXntlWkt7s%3D, PID: 19858129
    • Lecumberri B, Fernández-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;47:276–80.
    • (2010) J Med Genet , vol.47 , pp. 276-280
    • Lecumberri, B.1    Fernández-Rebollo, E.2    Sentchordi, L.3
  • 93
    • 77952092694 scopus 로고    scopus 로고
    • Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib
    • COI: 1:CAS:528:DC%2BC3cXktVSntr4%3D, PID: 20960161
    • Cavaco BM, Tomaz RA, Fonseca F, et al. Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. Endocrine. 2010;37:408–14.
    • (2010) Endocrine , vol.37 , pp. 408-414
    • Cavaco, B.M.1    Tomaz, R.A.2    Fonseca, F.3
  • 94
    • 84937771428 scopus 로고    scopus 로고
    • Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
    • PID: 25005734
    • Rezwan FI, Poole RL, Prescott T, et al. Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b. Eur J Hum Genet. 2014. doi:10.1038/ejhg.2014.
    • (2014) Eur J Hum Genet
    • Rezwan, F.I.1    Poole, R.L.2    Prescott, T.3
  • 95
    • 84875129271 scopus 로고    scopus 로고
    • Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection?
    • PID: 23714438
    • Vermeiden JP, Bernardus RE. Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection? Fertil Steril. 2013;99:642–51.
    • (2013) Fertil Steril , vol.99 , pp. 642-651
    • Vermeiden, J.P.1    Bernardus, R.E.2
  • 96
    • 0037222510 scopus 로고    scopus 로고
    • Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
    • COI: 1:CAS:528:DC%2BD3sXis1ygug%3D%3D, PID: 12439823
    • DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet. 2003;72:156–60.
    • (2003) Am J Hum Genet , vol.72 , pp. 156-160
    • DeBaun, M.R.1    Niemitz, E.L.2    Feinberg, A.P.3
  • 97
    • 67349253397 scopus 로고    scopus 로고
    • Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
    • COI: 1:CAS:528:DC%2BD1MXkvVGmtbc%3D, PID: 19092779
    • 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;17:611–9.
    • (2009) Eur J Hum Genet , vol.17 , pp. 611-619
    • Bliek, J.1    Verde, G.2    Callaway, J.3
  • 98
    • 48349092985 scopus 로고    scopus 로고
    • Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    • COI: 1:CAS:528:DC%2BD1cXptVKrsrk%3D, PID: 18622393
    • Mackay DJ, Callaway JL, Marks SM, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet. 2008;40:949–51.
    • (2008) Nat Genet , vol.40 , pp. 949-951
    • Mackay, D.J.1    Callaway, J.L.2    Marks, S.M.3
  • 99
    • 84861990687 scopus 로고    scopus 로고
    • Spanish PHP Group: detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
    • COI: 1:CAS:528:DC%2BC38Xos1eiu7g%3D, PID: 22492776, The authors found that multilocus imprinting defects, which has been described in some growth disorders, was rarely present in patients with pseudohypoparathyroidism Ib who had broad GNAS methylation defects and lacked any of the previously described microdeletions or paternal uniparental disomy of chromosome 20
    • Perez-Nanclares G, Romanelli V, Mayo S, et al. Spanish PHP Group: detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus. J Clin Endocrinol Metab. 2012;97:E1060–7. The authors found that multilocus imprinting defects, which has been described in some growth disorders, was rarely present in patients with pseudohypoparathyroidism Ib who had broad GNAS methylation defects and lacked any of the previously described microdeletions or paternal uniparental disomy of chromosome 20.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 1060-1067
    • Perez-Nanclares, G.1    Romanelli, V.2    Mayo, S.3
  • 100
    • 0031687985 scopus 로고    scopus 로고
    • Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
    • COI: 1:CAS:528:DyaK1cXms1art7Y%3D, PID: 9771709
    • Lefebvre L, Viville S, Barton SC, et al. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nat Genet. 1998;20:163–9.
    • (1998) Nat Genet , vol.20 , pp. 163-169
    • Lefebvre, L.1    Viville, S.2    Barton, S.C.3
  • 101
    • 0024404145 scopus 로고
    • GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours
    • Landis CA, Masters SB, Spada A, et al. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature. 1989;34:692–6.
    • (1989) Nature , vol.34 , pp. 692-696
    • Landis, C.A.1    Masters, S.B.2    Spada, A.3
  • 102
    • 0026003074 scopus 로고
    • Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
    • COI: 1:STN:280:DyaK38%2FkvFKhsg%3D%3D, PID: 1944469
    • Weinstein LS, Shenker A, Gejman PV, et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991;325:1688–95.
    • (1991) N Engl J Med , vol.325 , pp. 1688-1695
    • Weinstein, L.S.1    Shenker, A.2    Gejman, P.V.3
  • 103
    • 0033971782 scopus 로고    scopus 로고
    • Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone
    • COI: 1:CAS:528:DC%2BD3cXmsVynsw%3D%3D, PID: 10646121
    • Bianco P, Riminucci M, Majolagbe A, et al. Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res. 2000;15:120–8.
    • (2000) J Bone Miner Res , vol.15 , pp. 120-128
    • Bianco, P.1    Riminucci, M.2    Majolagbe, A.3
  • 104
    • 34247623164 scopus 로고    scopus 로고
    • A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone
    • COI: 1:STN:280:DC%2BD2s3osFWnsw%3D%3D, PID: 17493233
    • Idowu BD, Al-Adnani M, O'Donnell P, et al. A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. Histopathology. 2007;50:691–704.
    • (2007) Histopathology , vol.50 , pp. 691-704
    • Idowu, B.D.1    Al-Adnani, M.2    O'Donnell, P.3
  • 105
    • 0022654257 scopus 로고
    • The McCune-Albright syndrome: a lethal gene surviving by mosaicism
    • COI: 1:STN:280:DyaL283ksFOisQ%3D%3D, PID: 3720010
    • Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet. 1986;29:321–4.
    • (1986) Clin Genet , vol.29 , pp. 321-324
    • Happle, R.1
  • 106
    • 84911194498 scopus 로고    scopus 로고
    • Constitutive expression of Gsα(R201C) in mice produces a heritable, direct replica of human fibrous dysplasia bone pathology and demonstrates its natural history
    • COI: 1:CAS:528:DC%2BC2cXhsl2htrrI, PID: 24764158
    • Saggio I, Remoli C, Spica E, et al. Constitutive expression of Gsα(R201C) in mice produces a heritable, direct replica of human fibrous dysplasia bone pathology and demonstrates its natural history. J Bone Miner Res. 2014;29:2357–68.
    • (2014) J Bone Miner Res , vol.29 , pp. 2357-2368
    • Saggio, I.1    Remoli, C.2    Spica, E.3
  • 107
    • 0000439832 scopus 로고
    • Osteitis fibrosa cystica: the case of a nine-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism
    • McCune DJ. Osteitis fibrosa cystica: the case of a nine-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child. 1936;52:743–4.
    • (1936) Am J Dis Child , vol.52 , pp. 743-744
    • McCune, D.J.1
  • 108
    • 0001473635 scopus 로고
    • Syndrome characterized by osteitis fibrosa disseminata, areas, of pigmentation, and endocrine dysfunction, with precocious puberty in females: report of 5 cases
    • Albright F, Butler AM, Hampton AO, et al. Syndrome characterized by osteitis fibrosa disseminata, areas, of pigmentation, and endocrine dysfunction, with precocious puberty in females: report of 5 cases. N Engl J Med. 1937;216:727–46.
    • (1937) N Engl J Med , vol.216 , pp. 727-746
    • Albright, F.1    Butler, A.M.2    Hampton, A.O.3
  • 109
    • 1542358991 scopus 로고    scopus 로고
    • Inherited diseases involving g proteins and g protein-coupled receptors
    • COI: 1:CAS:528:DC%2BD2cXitVWrtLY%3D, PID: 14746508
    • Spiegel AM, Weinstein LS. Inherited diseases involving g proteins and g protein-coupled receptors. Annu Rev Med. 2004;55:27–39.
    • (2004) Annu Rev Med , vol.55 , pp. 27-39
    • Spiegel, A.M.1    Weinstein, L.S.2
  • 110
    • 84861361722 scopus 로고    scopus 로고
    • McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia
    • PID: 22640971
    • Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis. 2012;7 Suppl 1:S4.
    • (2012) Orphanet J Rare Dis , vol.7 , pp. 4
    • Collins, M.T.1    Singer, F.R.2    Eugster, E.3
  • 111
    • 0000914631 scopus 로고
    • Fibrous dysplasia of bone: a condition affecting one, several or many bones, graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities
    • Lichtenstein LJH. Fibrous dysplasia of bone: a condition affecting one, several or many bones, graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Path. 1942;33:777–816.
    • (1942) Arch Path , vol.33 , pp. 777-816
    • Lichtenstein, L.J.H.1
  • 112
    • 84902747058 scopus 로고    scopus 로고
    • Fibrous dysplasia
    • Glorieux FH, Pettifor J, Juppner H, (eds), Academic, Elsevier, New York:
    • Bianco P, Robey PG, Wientroub S. Fibrous dysplasia. In: Glorieux FH, Pettifor J, Juppner H, editors. Pediatric bone: biology and disease. New York: Academic, Elsevier; 2003. p. 509–39.
    • (2003) Pediatric bone: biology and disease , pp. 509-539
    • Bianco, P.1    Robey, P.G.2    Wientroub, S.3
  • 113
    • 33846468232 scopus 로고    scopus 로고
    • Spectrum and natural history of fibrous dysplasia of bone
    • Collins MT. Spectrum and natural history of fibrous dysplasia of bone. J Bone Miner Res. 2006;21 Suppl 2:99–P104.
    • (2006) J Bone Miner Res , vol.21 , pp. 99-104
    • Collins, M.T.1
  • 114
    • 80052364465 scopus 로고    scopus 로고
    • Gsα enhances commitment of mesenchymal progenitors to the osteoblast lineage but restrains osteoblast differentiation in mice
    • COI: 1:CAS:528:DC%2BC3MXhtFOhsbbO, PID: 21804192, The conditional Gsα knock-out in osterix-expressing cells led to severe osteoporosis with fractures at birth, as a consequence of impaired bone formation related to rapid differentiation of mature osteoblasts leading to decreased osteoblast pool, rather than increased resorption. This study thus demonstrated the critical role of Gsα in temporal regulation of osteogenesis
    • Wu JY, Aarnisalo P, Bastepe M, et al. Gsα enhances commitment of mesenchymal progenitors to the osteoblast lineage but restrains osteoblast differentiation in mice. J Clin Invest. 2011;121:3492–504. The conditional Gsα knock-out in osterix-expressing cells led to severe osteoporosis with fractures at birth, as a consequence of impaired bone formation related to rapid differentiation of mature osteoblasts leading to decreased osteoblast pool, rather than increased resorption. This study thus demonstrated the critical role of Gsα in temporal regulation of osteogenesis.
    • (2011) J Clin Invest , vol.121 , pp. 3492-3504
    • Wu, J.Y.1    Aarnisalo, P.2    Bastepe, M.3
  • 115
    • 0030660319 scopus 로고    scopus 로고
    • Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation
    • COI: 1:STN:280:DyaK1c%2FmsF2lug%3D%3D, PID: 9403710
    • Riminucci M, Fisher LW, Shenker A, et al. Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. Am J Pathol. 1997;151:1587–600.
    • (1997) Am J Pathol , vol.151 , pp. 1587-1600
    • Riminucci, M.1    Fisher, L.W.2    Shenker, A.3
  • 116
    • 0031043824 scopus 로고    scopus 로고
    • Increased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia
    • COI: 1:STN:280:DyaK2s3hsVClsA%3D%3D, PID: 9060842
    • Marie PJ, de Pollak C, Chanson P, et al. Increased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia. Am J Pathol. 1997;150:1059–69.
    • (1997) Am J Pathol , vol.150 , pp. 1059-1069
    • Marie, P.J.1    de Pollak, C.2    Chanson, P.3
  • 117
    • 0029706921 scopus 로고    scopus 로고
    • The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation
    • COI: 1:CAS:528:DyaK2sXktFKisrY%3D, PID: 8701084
    • Cone RD, Lu D, Koppula S, et al. The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation. Recent Prog Horm Res. 1996;51:287–317.
    • (1996) Recent Prog Horm Res , vol.51 , pp. 287-317
    • Cone, R.D.1    Lu, D.2    Koppula, S.3
  • 118
    • 85047691059 scopus 로고    scopus 로고
    • FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting
    • COI: 1:CAS:528:DC%2BD3sXntlSiurs%3D, PID: 12952917
    • Riminucci M, Collins MT, Fedarko NS, et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest. 2003;112:683–92.
    • (2003) J Clin Invest , vol.112 , pp. 683-692
    • Riminucci, M.1    Collins, M.T.2    Fedarko, N.S.3
  • 119
    • 0035058573 scopus 로고    scopus 로고
    • Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia
    • COI: 1:CAS:528:DC%2BD3MXjs1Wjtb0%3D, PID: 11341325
    • Collins MT, Chebli C, Jones J, et al. Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. J Bone Miner Res. 2001;16:806–13.
    • (2001) J Bone Miner Res , vol.16 , pp. 806-813
    • Collins, M.T.1    Chebli, C.2    Jones, J.3
  • 120
    • 84859886970 scopus 로고    scopus 로고
    • Mechanism of FGF23 processing in fibrous dysplasia
    • COI: 1:CAS:528:DC%2BC38Xls1aqu74%3D, PID: 22247037
    • Bhattacharyya N, Wiench M, Dumitrescu C, et al. Mechanism of FGF23 processing in fibrous dysplasia. J Bone Miner Res. 2012;27:1132–41.
    • (2012) J Bone Miner Res , vol.27 , pp. 1132-1141
    • Bhattacharyya, N.1    Wiench, M.2    Dumitrescu, C.3
  • 121
    • 80052303008 scopus 로고    scopus 로고
    • Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo
    • COI: 1:CAS:528:DC%2BC3MXhtFektbrK, PID: 21726676
    • Rhee Y, Bivi N, Farrow E, et al. Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo. Bone. 2011;49:636–43.
    • (2011) Bone , vol.49 , pp. 636-643
    • Rhee, Y.1    Bivi, N.2    Farrow, E.3
  • 122
    • 77957993384 scopus 로고    scopus 로고
    • PTH increases FGF23 gene expression and mediates the high-FGF23 levels of experimental kidney failure: a bone parathyroid feedback loop
    • COI: 1:CAS:528:DC%2BC3cXhtlKlurjM, PID: 20685823
    • Lavi-Moshayoff V, Wasserman G, Meir T, et al. PTH increases FGF23 gene expression and mediates the high-FGF23 levels of experimental kidney failure: a bone parathyroid feedback loop. Am J Physiol Renal Physiol. 2010;299:F882–9.
    • (2010) Am J Physiol Renal Physiol , vol.299 , pp. 882-889
    • Lavi-Moshayoff, V.1    Wasserman, G.2    Meir, T.3
  • 123
    • 2942694259 scopus 로고    scopus 로고
    • Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors
    • COI: 1:CAS:528:DC%2BD2cXmtlKjsLs%3D, PID: 15181091
    • Mantovani G, Bondioni S, Lania AG, et al. Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors. J Clin Endocrinol Metab. 2004;89:3007–9.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 3007-3009
    • Mantovani, G.1    Bondioni, S.2    Lania, A.G.3
  • 124
    • 78650989826 scopus 로고    scopus 로고
    • Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone
    • COI: 1:CAS:528:DC%2BC3MXmvF2luw%3D%3D, PID: 20887824
    • Mariot V, Wu JY, Aydin C, et al. Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone. Bone. 2011;48:312–20.
    • (2011) Bone , vol.48 , pp. 312-320
    • Mariot, V.1    Wu, J.Y.2    Aydin, C.3
  • 125
    • 0025127424 scopus 로고
    • Two G protein oncogenes in human endocrine tumors
    • COI: 1:CAS:528:DyaK3cXlt1Omtrc%3D, PID: 2116665
    • Lyons J, Landis CA, Harsh G, et al. Two G protein oncogenes in human endocrine tumors. Science. 1990;249:655–9.
    • (1990) Science , vol.249 , pp. 655-659
    • Lyons, J.1    Landis, C.A.2    Harsh, G.3
  • 126
    • 0027325891 scopus 로고
    • Rare mutations of the Gs alpha subunit gene in human endocrine tumors. Mutation detection by polymerase chain reaction-primer-introduced restriction analysis
    • COI: 1:CAS:528:DyaK2cXhtVemtb8%3D, PID: 8339229
    • Yoshimoto K, Iwahana H, Fukuda A, et al. Rare mutations of the Gs alpha subunit gene in human endocrine tumors. Mutation detection by polymerase chain reaction-primer-introduced restriction analysis. Cancer. 1993;72:1386–93.
    • (1993) Cancer , vol.72 , pp. 1386-1393
    • Yoshimoto, K.1    Iwahana, H.2    Fukuda, A.3
  • 127
    • 83555161680 scopus 로고    scopus 로고
    • GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation
    • COI: 1:CAS:528:DC%2BC3MXhs1GhsbjP, PID: 21835143
    • Nault JC, Fabre M, Couchy G, et al. GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. J Hepatol. 2012;56:184–91.
    • (2012) J Hepatol , vol.56 , pp. 184-191
    • Nault, J.C.1    Fabre, M.2    Couchy, G.3
  • 128
    • 33746514634 scopus 로고    scopus 로고
    • Activating mutations of Gsalpha in kidney cancer
    • COI: 1:CAS:528:DC%2BD28XpsVCjurs%3D, PID: 16890646
    • Kalfa N, Lumbroso S, Boulle N, et al. Activating mutations of Gsalpha in kidney cancer. J Urol. 2006;176:891–5.
    • (2006) J Urol , vol.176 , pp. 891-895
    • Kalfa, N.1    Lumbroso, S.2    Boulle, N.3
  • 129
    • 79960660466 scopus 로고    scopus 로고
    • Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development
    • COI: 1:CAS:528:DC%2BC3MXhtFOisL%2FF, PID: 21775669, The authors found that GNAS mutations were present in 66% of intraductal papillary mucinous neoplasms (IPMN), one of the most common cystic neoplasms of the pancreas and a precursor to invasive adenocarcinoma. 96% of IPMN have either KRAS or GNAS mutations. This new finding could be a new hope for the management of pancreatic carcinoma
    • Wu J, Matthaei H, Maitra A, et al. Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development. Sci Transl Med. 2011;3:92ra66. The authors found that GNAS mutations were present in 66% of intraductal papillary mucinous neoplasms (IPMN), one of the most common cystic neoplasms of the pancreas and a precursor to invasive adenocarcinoma. 96% of IPMN have either KRAS or GNAS mutations. This new finding could be a new hope for the management of pancreatic carcinoma.
    • (2011) Sci Transl Med , vol.3 , pp. 92
    • Wu, J.1    Matthaei, H.2    Maitra, A.3
  • 130
    • 84900444219 scopus 로고    scopus 로고
    • GNAS mutations identify a set of right-sided, RAS mutant, villous colon cancers
    • PID: 24498230
    • Fecteau RE, Lutterbaugh J, Markowitz SD, et al. GNAS mutations identify a set of right-sided, RAS mutant, villous colon cancers. PLoS One. 2014;9:e87966.
    • (2014) PLoS One , vol.9 , pp. 87966
    • Fecteau, R.E.1    Lutterbaugh, J.2    Markowitz, S.D.3
  • 131
    • 80055076095 scopus 로고    scopus 로고
    • Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling
    • COI: 1:CAS:528:DC%2BC3MXhtlykur%2FE, PID: 21890629
    • Liu Z, Turan S, Wehbi VL, et al. Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling. J Biol Chem. 2011;286:38558–69.
    • (2011) J Biol Chem , vol.286 , pp. 38558-38569
    • Liu, Z.1    Turan, S.2    Wehbi, V.L.3
  • 132
    • 84900388543 scopus 로고    scopus 로고
    • An siRNA screen identifies the GNAS locus as a driver in 20q amplified breast cancer
    • COI: 1:CAS:528:DC%2BC3sXptVyktLg%3D, PID: 23752180
    • Garcia-Murillas I, Sharpe R, Pearson A, et al. An siRNA screen identifies the GNAS locus as a driver in 20q amplified breast cancer. Oncogene. 2014;33:2478–86.
    • (2014) Oncogene , vol.33 , pp. 2478-2486
    • Garcia-Murillas, I.1    Sharpe, R.2    Pearson, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.