메뉴 건너뛰기




Volumn 4, Issue SUPPL. 4, 2007, Pages 380-385

Genetic and molecular aspects of McCune-Albright syndrome

Author keywords

Adenylyl cyclase; Cyclic AMP; G protein; McCune Albright; Peptide nucleic acid

Indexed keywords

ADENYLATE CYCLASE; CYCLIC AMP; GUANINE NUCLEOTIDE BINDING PROTEIN; PEPTIDE NUCLEIC ACID;

EID: 35148819766     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (23)

References (47)
  • 1
    • 0001473635 scopus 로고
    • Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females
    • Albright BA, Hampton AO, Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. N Engl J Med 1937;216:727-741
    • (1937) N Engl J Med , vol.216 , pp. 727-741
    • Albright, B.A.1    Hampton, A.O.2    Smith, P.3
  • 3
    • 0022892512 scopus 로고
    • McCune-Albright syndrome. Long-term follow-up
    • Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome. Long-term follow-up. JAMA 1986;256:2980-2984
    • (1986) JAMA , vol.256 , pp. 2980-2984
    • Lee, P.A.1    Van Dop, C.2    Migeon, C.J.3
  • 4
    • 27544440629 scopus 로고    scopus 로고
    • A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia
    • Lietman SA, Ding C, Levine MA. A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Joint Surg Am 2005;87:2489-2494
    • (2005) J Bone Joint Surg Am , vol.87 , pp. 2489-2494
    • Lietman, S.A.1    Ding, C.2    Levine, M.A.3
  • 7
    • 0024476804 scopus 로고
    • Expression of Gs alpha in Escherichia coli. Purification and properties of two forms of the protein
    • Graziano MP, Freissmuth M, Gilman AG. Expression of Gs alpha in Escherichia coli. Purification and properties of two forms of the protein. J Biol Chem 1989;264:409-418
    • (1989) J Biol Chem , vol.264 , pp. 409-418
    • Graziano, M.P.1    Freissmuth, M.2    Gilman, A.G.3
  • 8
    • 0024425826 scopus 로고
    • Synthesis in Escherichia coli of GTPase-deficient mutants of Gs alpha
    • Graziano MP, Gilman AG. Synthesis in Escherichia coli of GTPase-deficient mutants of Gs alpha. J Biol Chem 1989;264:15475-15482
    • (1989) J Biol Chem , vol.264 , pp. 15475-15482
    • Graziano, M.P.1    Gilman, A.G.2
  • 9
    • 0023522307 scopus 로고
    • Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas
    • Vallar L, Spada A, Giannattasio G. Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas. Nature 1987;330:566-568
    • (1987) Nature , vol.330 , pp. 566-568
    • Vallar, L.1    Spada, A.2    Giannattasio, G.3
  • 10
    • 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, Pace AM, Bourne HR, Vallar L. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 1989;340:692-696
    • (1989) Nature , vol.340 , pp. 692-696
    • Landis, C.A.1    Masters, S.B.2    Spada, A.3    Pace, A.M.4    Bourne, H.R.5    Vallar, L.6
  • 13
    • 0033322617 scopus 로고    scopus 로고
    • Impact of gsp oncogene on the expression of genes coding for Gsalpha, Pit-1, Gi2alpha and somatostatin receptor 2 in human somatotroph adenomas: Involvement in octreotide sensitivity
    • Barlier A, Pellegrini-Bouiller I, Gunz G, Zamora AJ, Jaquet P, Enjalbert A. Impact of gsp oncogene on the expression of genes coding for Gsalpha, Pit-1, Gi2alpha and somatostatin receptor 2 in human somatotroph adenomas: involvement in octreotide sensitivity. J Clin Endocrinol Metab 1999;84:2759-2765
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2759-2765
    • Barlier, A.1    Pellegrini-Bouiller, I.2    Gunz, G.3    Zamora, A.J.4    Jaquet, P.5    Enjalbert, A.6
  • 14
    • 0032566155 scopus 로고    scopus 로고
    • G protein abnormalities in pituitary adenomas
    • Spada A, Lania A, Ballare E. G protein abnormalities in pituitary adenomas. Mol Cell Endocrinol 1998;142:1-14
    • (1998) Mol Cell Endocrinol , vol.142 , pp. 1-14
    • Spada, A.1    Lania, A.2    Ballare, E.3
  • 16
    • 0030830109 scopus 로고    scopus 로고
    • Recurrent ovarian cyst and mutation of the Gs alpha gene in ovarian cyst fluid cells: What is the link with McCune-Albright syndrome?
    • Pienkowski C, Lumbroso S, Bieth E, Sultan C, Rochiccioli P, Tauber M. Recurrent ovarian cyst and mutation of the Gs alpha gene in ovarian cyst fluid cells: what is the link with McCune-Albright syndrome? Acta Paediatr 1997;86:1019-1021
    • (1997) Acta Paediatr , vol.86 , pp. 1019-1021
    • Pienkowski, C.1    Lumbroso, S.2    Bieth, E.3    Sultan, C.4    Rochiccioli, P.5    Tauber, M.6
  • 18
    • 0030111093 scopus 로고    scopus 로고
    • Activating mutations of Gs protein in monostotic fibrous lesions of bone
    • Alman BA, Greet DA, Wolfe HJ. Activating mutations of Gs protein in monostotic fibrous lesions of bone. J Orthop Res 1996;14:311-315
    • (1996) J Orthop Res , vol.14 , pp. 311-315
    • Alman, B.A.1    Greet, D.A.2    Wolfe, H.J.3
  • 20
    • 0026694168 scopus 로고
    • Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome
    • Schwindinger WF, Francomano CA, Levine MA. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 1992;89:5152-5156
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 5152-5156
    • Schwindinger, W.F.1    Francomano, C.A.2    Levine, M.A.3
  • 21
    • 0028169341 scopus 로고
    • An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome
    • Shenker A, Weinstein LS, Sweet DE, Spiegel AM. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab 1994;79:750-755
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 750-755
    • Shenker, A.1    Weinstein, L.S.2    Sweet, D.E.3    Spiegel, A.M.4
  • 23
    • 0035042212 scopus 로고    scopus 로고
    • Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: An unusual expression of McCune-Albright syndrome in a prepubertal boy
    • Coutant R, Lumbroso S, Rey R, Lahlou N, Venara M, Rouleau S, Sultan C, Limal JM. Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy. J Clin Endocrinol Metab 2001;86:1778-1781
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 1778-1781
    • Coutant, R.1    Lumbroso, S.2    Rey, R.3    Lahlou, N.4    Venara, M.5    Rouleau, S.6    Sultan, C.7    Limal, J.M.8
  • 24
    • 2942562178 scopus 로고    scopus 로고
    • XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected and so is its companion Alex
    • Abramowitz J, Grenet D, Birnbaumer M, Torres HN, Birnbaumer L. XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected and so is its companion Alex. Proc Natl Acad Sei USA 2004;101:8366-8371
    • (2004) Proc Natl Acad Sei USA , vol.101 , pp. 8366-8371
    • Abramowitz, J.1    Grenet, D.2    Birnbaumer, M.3    Torres, H.N.4    Birnbaumer, L.5
  • 26
    • 0038011488 scopus 로고    scopus 로고
    • A comprehensive transcript map of the mouse Gnas imprinted complex
    • Holmes R, Williamson C, Peters J, Denny P, Wells C. A comprehensive transcript map of the mouse Gnas imprinted complex. Genome Res 2003;13:1410-1415
    • (2003) Genome Res , vol.13 , pp. 1410-1415
    • Holmes, R.1    Williamson, C.2    Peters, J.3    Denny, P.4    Wells, C.5
  • 27
    • 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;88:4336-4341
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4336-4341
    • Liu, J.1    Erlichman, B.2    Weinstein, L.S.3
  • 28
    • 0025814814 scopus 로고
    • Differential expression of novel Gs alpha signal transduction protein cDNA species
    • Swaroop A, Agarwal N, Gruen JR, Bick D, Weissman SM. Differential expression of novel Gs alpha signal transduction protein cDNA species. Nucleic Acids Res 1991;19:4725-4729
    • (1991) Nucleic Acids Res , vol.19 , pp. 4725-4729
    • Swaroop, A.1    Agarwal, N.2    Gruen, J.R.3    Bick, D.4    Weissman, S.M.5
  • 30
    • 33645888144 scopus 로고    scopus 로고
    • Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3′,5′- monophosphate formation mediated by human XLalphas
    • Linglart A, Mahon MJ, Kerachian MA, Berlach DM, Hendy GN, Juppner H, Bastepe M. Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3′,5′- monophosphate formation mediated by human XLalphas. Endocrinology 2006;147:2253-2262
    • (2006) Endocrinology , vol.147 , pp. 2253-2262
    • Linglart, A.1    Mahon, M.J.2    Kerachian, M.A.3    Berlach, D.M.4    Hendy, G.N.5    Juppner, H.6    Bastepe, M.7
  • 31
    • 0035898609 scopus 로고    scopus 로고
    • Two overlapping reading frames in a single exon encode interacting proteins - a novel way of gene usage
    • Klemke M, Kehlenbach RH, Huttner WB. Two overlapping reading frames in a single exon encode interacting proteins - a novel way of gene usage. Embo J 2001;20:3849-3860
    • (2001) Embo J , vol.20 , pp. 3849-3860
    • Klemke, M.1    Kehlenbach, R.H.2    Huttner, W.B.3
  • 32
    • 0032433682 scopus 로고    scopus 로고
    • 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 Svi U S A 1998;95:15475-15480
    • 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 Svi U S A 1998;95:15475-15480
  • 35
    • 0030902708 scopus 로고    scopus 로고
    • GH3 cells expressing constitutively active Gs alpha (Q227L) show enhanced hormone secretion and proliferation
    • Ham J, Ivan M, Wynford-Thomas D, Scanion MF. GH3 cells expressing constitutively active Gs alpha (Q227L) show enhanced hormone secretion and proliferation. Mol Cell Endocrinol 1997;127:41-47
    • (1997) Mol Cell Endocrinol , vol.127 , pp. 41-47
    • Ham, J.1    Ivan, M.2    Wynford-Thomas, D.3    Scanion, M.F.4
  • 36
    • 0031754596 scopus 로고    scopus 로고
    • Constitutively active Gs alpha is associated with an increased phosphodiesterase activity in human growth hormone-secreting adenomas
    • Lania A, Persani L, Ballare E, Mantovani S, Losa M, Spada A. Constitutively active Gs alpha is associated with an increased phosphodiesterase activity in human growth hormone-secreting adenomas. J Clin Endocrinol Metab 1998;83:1624-1628
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 1624-1628
    • Lania, A.1    Persani, L.2    Ballare, E.3    Mantovani, S.4    Losa, M.5    Spada, A.6
  • 37
    • 0028157931 scopus 로고
    • Constitutively active stimulatory G-protein alpha s in beta-cells of transgenic mice causes counterregulation of the increased adenosine 3′,5′-monophosphate and insulin secretion
    • Ma YH, Landis C, Tchao N, Wang J, Rodd G, Hanahan D, Bourne HR, Grodsky GM. Constitutively active stimulatory G-protein alpha s in beta-cells of transgenic mice causes counterregulation of the increased adenosine 3′,5′-monophosphate and insulin secretion. Endocrinology 1994;134:42-47
    • (1994) Endocrinology , vol.134 , pp. 42-47
    • Ma, Y.H.1    Landis, C.2    Tchao, N.3    Wang, J.4    Rodd, G.5    Hanahan, D.6    Bourne, H.R.7    Grodsky, G.M.8
  • 38
    • 0029166561 scopus 로고
    • Activation of cyclic nucleotide phosphodiesterases in FRTL-5 thyroid cells expressing a constitutively active Gs alpha
    • Nemoz G, Sette C, Hess M, Muca C, Vallar L, Conti M. Activation of cyclic nucleotide phosphodiesterases in FRTL-5 thyroid cells expressing a constitutively active Gs alpha. Mol Endocrinol 1995;9:1279-1287
    • (1995) Mol Endocrinol , vol.9 , pp. 1279-1287
    • Nemoz, G.1    Sette, C.2    Hess, M.3    Muca, C.4    Vallar, L.5    Conti, M.6
  • 41
    • 0029006890 scopus 로고
    • Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia
    • Candeliere GA, Glorieux FH, Prud'homme J, St-Arnaud R. Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. N Engl J Med 1995;332:1546-1551
    • (1995) N Engl J Med , vol.332 , pp. 1546-1551
    • Candeliere, G.A.1    Glorieux, F.H.2    Prud'homme, J.3    St-Arnaud, R.4
  • 42
    • 15344349695 scopus 로고    scopus 로고
    • Chondrocyte-specific knockout of the G protein G(s)alpha leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation
    • Sakamoto A, Chen M, Kobayashi T, Kronenberg HM, Weinstein LS. Chondrocyte-specific knockout of the G protein G(s)alpha leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation. J Bone Miner Res 2005;20:663-671
    • (2005) J Bone Miner Res , vol.20 , pp. 663-671
    • Sakamoto, A.1    Chen, M.2    Kobayashi, T.3    Kronenberg, H.M.4    Weinstein, L.S.5
  • 44
    • 33845966717 scopus 로고    scopus 로고
    • Searching for somatic mutations in McCune-Albright syndrome: A comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples
    • Kalfa N, Philibert P, Audran F, Ecochard A, Hannon T, Lumbroso S, Sultan C. Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples. Eur J Endocrinol 2006;155:839-843
    • (2006) Eur J Endocrinol , vol.155 , pp. 839-843
    • Kalfa, N.1    Philibert, P.2    Audran, F.3    Ecochard, A.4    Hannon, T.5    Lumbroso, S.6    Sultan, C.7
  • 46
    • 0030779964 scopus 로고    scopus 로고
    • 201 mutations in G alpha s from patients with fibrous dysplasia of bone
    • 201 mutations in G alpha s from patients with fibrous dysplasia of bone. Bone 1997;21:201-206
    • (1997) Bone , vol.21 , pp. 201-206
    • Candeliere, G.A.1    Roughley, P.J.2    Glorieux, F.H.3
  • 47
    • 0038696450 scopus 로고    scopus 로고
    • Hannon TS, Noonan K, Steinmetz R, Eugster EA, Levine MA, Pescovitz OH. Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone? J Pediatr 2003;142:532-538
    • Hannon TS, Noonan K, Steinmetz R, Eugster EA, Levine MA, Pescovitz OH. Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone? J Pediatr 2003;142:532-538


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.