-
1
-
-
2042437650
-
-
Lander, E.S, Linton, L.M, Birren, B, Nusbaum, C, Zody, M.C, Baldwin, J, Devon, K, Dewar, K, Doyle, M, FitzHugh, W, Funke, R, Gage, D, Harris, K, Heaford, A, Howland, J, Kann, L, Lehoczky, J, LeVine, R, McEwan, P, McKernan, K, Meldrim, J, Mesirov, J.P, Miranda, C, Morris, W, Naylor, J, Raymond, C, Rosetti, M, Santos, R, Sheridan, A, Sougnez, C, Stange-Thomann, N, Stojanovic, N, Subramanian, A, Wyman, D, Rogers, J, Sulston, J, Ainscough, R, Beck, S, Bentley, D, Burton, J, Clee, C, Carter, N, Coulson, A, Deadman, R, Deloukas, P, Dunham, A, Dunham, I, Durbin, R, French, L, Grafham, D, Gregory, S, Hubbard, T, Humphray, S, Hunt, A, Jones, M, Lloyd, C, McMurray, A, Matthews, L, Mercer, S, Milne, S, Mullikin, J.C, Mungall, A, Plumb, R, Ross, M, Shownkeen, R, Sims, S, Waterston, R.H, Wilson, R.K, Hillier, L.W, McPherson, J.D, Marra, M.A, Mardis, E.R, Fulton, L.A, Chinwalla, A.T, Pepin, K.H, Gish, W.R, Chissoe, S.L, Wen
-
Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., Funke, R., Gage, D., Harris, K., Heaford, A., Howland, J., Kann, L., Lehoczky, J., LeVine, R., McEwan, P., McKernan, K., Meldrim, J., Mesirov, J.P., Miranda, C., Morris, W., Naylor, J., Raymond, C., Rosetti, M., Santos, R., Sheridan, A., Sougnez, C., Stange-Thomann, N., Stojanovic, N., Subramanian, A., Wyman, D., Rogers, J., Sulston, J., Ainscough, R., Beck, S., Bentley, D., Burton, J., Clee, C., Carter, N., Coulson, A., Deadman, R., Deloukas, P., Dunham, A., Dunham, I., Durbin, R., French, L., Grafham, D., Gregory, S., Hubbard, T., Humphray, S., Hunt, A., Jones, M., Lloyd, C., McMurray, A., Matthews, L., Mercer, S., Milne, S., Mullikin, J.C., Mungall, A., Plumb, R., Ross, M., Shownkeen, R., Sims, S., Waterston, R.H., Wilson, R.K., Hillier, L.W., McPherson, J.D., Marra, M.A., Mardis, E.R., Fulton, L.A., Chinwalla, A.T., Pepin, K.H., Gish, W.R., Chissoe, S.L., Wendl, M.C., Delehaunty, K.D., Miner, T.L., Delehaunty, A., Kramer, J.B., Cook, L.L., Fulton, R.S., Johnson, D.L., Minx, P.J., Clifton, S.W., Hawkins, T., Branscomb, E., Predki, P., Richardson, P., Wenning, S., Slezak, T., Doggett, N., Cheng, J.F., Olsen, A., Lucas, S., Elkin, C., et al. Initial sequencing and analysis of the human genome. Nature 2001, 409(6822): 860-921.
-
-
-
-
2
-
-
0035895505
-
-
Venter, J.C, Adams, M.D, Myers, E.W, Li, P.W, Mural, R.J, Sutton, G.G, Smith, H.O, Yandell, M, Evans, C.A, Holt, R.A, Gocayne, J.D, Amanatides, P, Ballew, R.M, Huson, D.H, Wortman, J.R, Zhang, Q, Kodira, C.D, Zheng, X.H, Chen, L, Skupski, M, Subramanian, G, Thomas, P.D, Zhang, J, Gabor Miklos, G.L, Nelson, C, Broder, S, Clark, A.G, Nadeau, J, McKusick, V.A, Zinder, N, Levine, A.J, Roberts, R.J, Simon, M, Slayman, C, Hunkapiller, M, Bolanos, R, Delcher, A, Dew, I, Fasulo, D, Flanigan, M, Florea, L, Halpern, A, Hannenhalli, S, Kravitz, S, Levy, S, Mobarry, C, Reinert, K, Remington, K, Abu-Threideh, J, Beasley, E, Biddick, K, Bonazzi, V, Brandon, R, Cargill, M, Chandramouliswaran, I, Charlab, R, Chaturvedi, K, Deng, Z, Di Francesco, V, Dunn, P, Eilbeck, K, Evangelista, C, Gabrielian, A.E, Gan, W, Ge, W, Gong, F, Gu, Z, Guan, P, Heiman, T.J, Higgins, M.E, Ji, R.R, Ke, Z, Ketchum, K.A, Lai, Z, Lei, Y, Li, Z, Li, J
-
Venter, J.C., Adams, M.D., Myers, E.W., Li, P.W., Mural, R.J., Sutton, G.G., Smith, H.O., Yandell, M., Evans, C.A., Holt, R.A., Gocayne, J.D., Amanatides, P., Ballew, R.M., Huson, D.H., Wortman, J.R., Zhang, Q., Kodira, C.D., Zheng, X.H., Chen, L., Skupski, M., Subramanian, G., Thomas, P.D., Zhang, J., Gabor Miklos, G.L., Nelson, C., Broder, S., Clark, A.G., Nadeau, J., McKusick, V.A., Zinder, N., Levine, A.J., Roberts, R.J., Simon, M., Slayman, C., Hunkapiller, M., Bolanos, R., Delcher, A., Dew, I., Fasulo, D., Flanigan, M., Florea, L., Halpern, A., Hannenhalli, S., Kravitz, S., Levy, S., Mobarry, C., Reinert, K., Remington, K., Abu-Threideh, J., Beasley, E., Biddick, K., Bonazzi, V., Brandon, R., Cargill, M., Chandramouliswaran, I., Charlab, R., Chaturvedi, K., Deng, Z., Di Francesco, V., Dunn, P., Eilbeck, K., Evangelista, C., Gabrielian, A.E., Gan, W., Ge, W., Gong, F., Gu, Z., Guan, P., Heiman, T.J., Higgins, M.E., Ji, R.R., Ke, Z., Ketchum, K.A., Lai, Z., Lei, Y., Li, Z., Li, J., Liang, Y., Lin, X., Lu, F., Merkulov, G.V., Milshina, N., Moore, H.M., Naik, A.K., Narayan, V.A., Neelam, B., Nusskern, D., Rusch, D.B., Salzberg, S., Shao, W., Shue, B., Sun, J., Wang, Z., Wang, A., Wang, X., Wang, J., Wei, M., Wides, R., Xiao, C., et al. The sequence of the human genome. Science 2001, 291(5507): 1304-51.
-
-
-
-
3
-
-
7244245762
-
Finishing the euchromatic sequence of the human genome
-
Finishing the euchromatic sequence of the human genome. Nature 2004, 431(7011): 931-45.
-
(2004)
Nature
, vol.431
, Issue.7011
, pp. 931-945
-
-
-
4
-
-
2642580020
-
Quality assessment of the human genome sequence
-
Schmutz, J., Wheeler, J., Grimwood, J., Dickson, M., Yang, J., Caoile, C., Bajorek, E., Black, S., Chan, Y.M., Denys, M., Escobar, J., Flowers, D., Fotopulos, D., Garcia, C., Gomez, M., Gonzales, E., Haydu, L., Lopez, F., Ramirez, L., Retterer, J., Rodriguez, A., Rogers, S., Salazar, A., Tsai, M., Myers, R.M. Quality assessment of the human genome sequence. Nature 2004, 429(6990): 365-8.
-
(2004)
Nature
, vol.429
, Issue.6990
, pp. 365-368
-
-
Schmutz, J.1
Wheeler, J.2
Grimwood, J.3
Dickson, M.4
Yang, J.5
Caoile, C.6
Bajorek, E.7
Black, S.8
Chan, Y.M.9
Denys, M.10
Escobar, J.11
Flowers, D.12
Fotopulos, D.13
Garcia, C.14
Gomez, M.15
Gonzales, E.16
Haydu, L.17
Lopez, F.18
Ramirez, L.19
Retterer, J.20
Rodriguez, A.21
Rogers, S.22
Salazar, A.23
Tsai, M.24
Myers, R.M.25
more..
-
5
-
-
16544392954
-
Human genome: End of the beginning
-
Stein, L.D. Human genome: end of the beginning. Nature 2004, 431(7011): 915-6.
-
(2004)
Nature
, vol.431
, Issue.7011
, pp. 915-916
-
-
Stein, L.D.1
-
6
-
-
0034123469
-
How to count. human genes
-
Aparicio, S.A. How to count. human genes. Nat. Genet. 2000, 25(2): 129-30.
-
(2000)
Nat. Genet
, vol.25
, Issue.2
, pp. 129-130
-
-
Aparicio, S.A.1
-
7
-
-
0034084035
-
Analysis of expressed sequence tags indicates 35,000 human genes
-
Ewing, B., Green, P. Analysis of expressed sequence tags indicates 35,000 human genes. Nat. Genet. 2000, 25(2): 232-4.
-
(2000)
Nat. Genet
, vol.25
, Issue.2
, pp. 232-234
-
-
Ewing, B.1
Green, P.2
-
8
-
-
0034204044
-
Gene index analysis of the human genome estimates approximately 120,000 genes
-
Liang, F., Holt, L, Pertea, G., Karamycheva, S., Salzberg, S.L., Quackenbush, J. Gene index analysis of the human genome estimates approximately 120,000 genes. Nat. Genet. 2000, 25(2): 239-40.
-
(2000)
Nat. Genet
, vol.25
, Issue.2
, pp. 239-240
-
-
Liang, F.1
Holt, L.2
Pertea, G.3
Karamycheva, S.4
Salzberg, S.L.5
Quackenbush, J.6
-
9
-
-
0000508290
-
Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence
-
Roest Crollius, H., Jaillon, O., Bernot, A., Dasilva, C., Bouneau, L., Fischer, C., Fizames, C., Wincker, P., Brottier, P., Quetier, F., Saurin, W., Weissenbach, J. Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence. Nat. Genet. 2000, 25(2): 235-8.
-
(2000)
Nat. Genet
, vol.25
, Issue.2
, pp. 235-238
-
-
Roest Crollius, H.1
Jaillon, O.2
Bernot, A.3
Dasilva, C.4
Bouneau, L.5
Fischer, C.6
Fizames, C.7
Wincker, P.8
Brottier, P.9
Quetier, F.10
Saurin, W.11
Weissenbach, J.12
-
10
-
-
0025971854
-
Genetic mapping of the Gs-α subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis
-
Gejman, P.V., Weinstein, L.S., Martinez, M., Spiegel, A.M., Cao, Q., Hsieh, W.T., Hoehe, M.R., Gershon, E.S. Genetic mapping of the Gs-α subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis. Genomics 1991, 9: 782-3.
-
(1991)
Genomics
, vol.9
, pp. 782-783
-
-
Gejman, P.V.1
Weinstein, L.S.2
Martinez, M.3
Spiegel, A.M.4
Cao, Q.5
Hsieh, W.T.6
Hoehe, M.R.7
Gershon, E.S.8
-
11
-
-
0025922703
-
G protein Gs alpha (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2
-
Rao, V.V., Schnittger, S., Hansmann, I. G protein Gs alpha (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2. Genomics 1991, 10(1):257-61.
-
(1991)
Genomics
, vol.10
, Issue.1
, pp. 257-261
-
-
Rao, V.V.1
Schnittger, S.2
Hansmann, I.3
-
12
-
-
0026077914
-
Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2 - q13.3 in human by in situ hybridization
-
Levine, M.A., Modi, W.S., O'Brien, S.J. Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2 - q13.3 in human by in situ hybridization. Genomics 1991, 11(2): 478-9.
-
(1991)
Genomics
, vol.11
, Issue.2
, pp. 478-479
-
-
Levine, M.A.1
Modi, W.S.2
O'Brien, S.J.3
-
13
-
-
0342382485
-
Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human
-
Blatt, C., Eversole-Cire, P., Cohn, V.H., Zollman, S., Fournier, R.E., Mohandas, L.T., Nesbitt, M., Lugo, T., Jones, D.T., Reed, R.R., 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(20): 7642-6.
-
(1988)
Proc. Natl. Acad. Sci. U.S.A
, vol.85
, Issue.20
, pp. 7642-7646
-
-
Blatt, C.1
Eversole-Cire, P.2
Cohn, V.H.3
Zollman, S.4
Fournier, R.E.5
Mohandas, L.T.6
Nesbitt, M.7
Lugo, T.8
Jones, D.T.9
Reed, R.R.10
-
14
-
-
0028359355
-
Mapping studies of the distal imprinting region of mouse chromosome 2
-
Peters, J., Beechey, C.V., Ball, S.T., Evans, E.P. Mapping studies of the distal imprinting region of mouse chromosome 2. Genet. Res. 1994, 63(3): 169-74.
-
(1994)
Genet. Res
, vol.63
, Issue.3
, pp. 169-174
-
-
Peters, J.1
Beechey, C.V.2
Ball, S.T.3
Evans, E.P.4
-
15
-
-
0034268796
-
Src tyrosine kinase is a novel direct effector of G proteins
-
Ma, Y.C., Huang, J., Ali, S., Lowry, W., Huang, X.Y. Src tyrosine kinase is a novel direct effector of G proteins. Cell 2000, 102(5): 635-46.
-
(2000)
Cell
, vol.102
, Issue.5
, pp. 635-646
-
-
Ma, Y.C.1
Huang, J.2
Ali, S.3
Lowry, W.4
Huang, X.Y.5
-
16
-
-
0023758453
-
The stimulatory G protein of adenylyl cyclase, Gs, also stimulates dihydropyridine- sensitive Ca2- channels. Evidence for direct regulation independent of phosphorylation by cAMP-dependent protein kinase or stimulation by a dihydropyridine agonist
-
Yatani, A., Imoto, Y., Codina, J., Hamilton, S.L., Brown, A.M., Birnbaumer, L. The stimulatory G protein of adenylyl cyclase, Gs, also stimulates dihydropyridine- sensitive Ca2- channels. Evidence for direct regulation independent of phosphorylation by cAMP-dependent protein kinase or stimulation by a dihydropyridine agonist. J. Biol. Chem. 1988, 263(20): 9887-95.
-
(1988)
J. Biol. Chem
, vol.263
, Issue.20
, pp. 9887-9895
-
-
Yatani, A.1
Imoto, Y.2
Codina, J.3
Hamilton, S.L.4
Brown, A.M.5
Birnbaumer, L.6
-
17
-
-
0024539357
-
Splice variants of the alpha subunit of the G protein Gs activate both adenylyl cyclase and calcium channels
-
Mattera, R., Graziano, M.P., Yatani, A., Zhou, Z., Graf, R., Codina, J., Birnbaumer, L., Gilman, A.G., Brown, A.M. Splice variants of the alpha subunit of the G protein Gs activate both adenylyl cyclase and calcium channels. Science 1989, 243(4892): 804-7.
-
(1989)
Science
, vol.243
, Issue.4892
, pp. 804-807
-
-
Mattera, R.1
Graziano, M.P.2
Yatani, A.3
Zhou, Z.4
Graf, R.5
Codina, J.6
Birnbaumer, L.7
Gilman, A.G.8
Brown, A.M.9
-
18
-
-
0028027596
-
GTPase mechanism of Gproteins from the 1.7-A crystal structure of transducin alpha-GDP-AIF-4
-
Sondek, J., Lambright, D.G., Noel, J.P., Hamm, H.E., Sigler, P.B. GTPase mechanism of Gproteins from the 1.7-A crystal structure of transducin alpha-GDP-AIF-4. Nature 1994, 372(6503): 276-9.
-
(1994)
Nature
, vol.372
, Issue.6503
, pp. 276-279
-
-
Sondek, J.1
Lambright, D.G.2
Noel, J.P.3
Hamm, H.E.4
Sigler, P.B.5
-
19
-
-
0027965652
-
Structures of active conformations of Gi alpha 1 and the mechanism of GTP hydrolysis
-
Coleman, D.E., Berghuis, A.M., Lee, E., Linder, M.E., Gilman, A.G., Sprang, S.R. Structures of active conformations of Gi alpha 1 and the mechanism of GTP hydrolysis. Science 1994, 265(5177): 1405-12.
-
(1994)
Science
, vol.265
, Issue.5177
, pp. 1405-1412
-
-
Coleman, D.E.1
Berghuis, A.M.2
Lee, E.3
Linder, M.E.4
Gilman, A.G.5
Sprang, S.R.6
-
20
-
-
0024404145
-
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours
-
Landis, C.A., Masters, S.B., Spada, A., Pace, A.M., Bourne, H.R., Vallar, L. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 1989, 340(6236): 692-6.
-
(1989)
Nature
, vol.340
, Issue.6236
, 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
-
21
-
-
0024425826
-
Synthesis in Escherichia coli of GTPase-deficient mutants of Gs alpha
-
Graziano, M.P., Gilman, A.G. Synthesis in Escherichia coli of GTPase-deficient mutants of Gs alpha. J. Biol. Chem. 1989, 264(26): 15475-82.
-
(1989)
J. Biol. Chem
, vol.264
, Issue.26
, pp. 15475-15482
-
-
Graziano, M.P.1
Gilman, A.G.2
-
22
-
-
0347949548
-
Insights into G protein structure, function, and regulation
-
Cabrera-Vera, T.M., Vanhauwe, J., Thomas, T.O., Medkova, M., Preininger, A., Mazzoni, M.R., Hamm, H.E. Insights into G protein structure, function, and regulation. Endocr. Rev. 2003, 24(6): 765-81.
-
(2003)
Endocr. Rev
, vol.24
, Issue.6
, pp. 765-781
-
-
Cabrera-Vera, T.M.1
Vanhauwe, J.2
Thomas, T.O.3
Medkova, M.4
Preininger, A.5
Mazzoni, M.R.6
Hamm, H.E.7
-
23
-
-
0002038659
-
Introduction to G-protein-coupled signal transduction and human disease
-
Spiegel AM, ed, Totowa, New Jersey: Humana Press
-
Spiegel, A.M. Introduction to G-protein-coupled signal transduction and human disease. In: Spiegel AM, ed. G proteins, receptors, and disease. Totowa, New Jersey: Humana Press 1998,1-21.
-
(1998)
G proteins, receptors, and disease
, pp. 1-21
-
-
Spiegel, A.M.1
-
24
-
-
0024121610
-
Isolation and characterization of the human Gsα gene
-
Kozasa, T., Itoh, H., Tsukamoto, T., Kaziro, Y. Isolation and characterization of the human Gsα gene. Proc. Natl. Acad. Sci. U.S.A. 1988, 85: 2081-5.
-
(1988)
Proc. Natl. Acad. Sci. U.S.A
, vol.85
, pp. 2081-2085
-
-
Kozasa, T.1
Itoh, H.2
Tsukamoto, T.3
Kaziro, Y.4
-
25
-
-
0022872554
-
Human cDNA clones for four species of G alpha s signal transduction protein
-
Bray, P., Carter, A., Simons, C., Guo, V., Puckett, C., Kamholz, J., Spiegel, A., Nirenberg, M. Human cDNA clones for four species of G alpha s signal transduction protein. Proc. Natl. Acad. Sci. U.S.A. 1986, 83(23): 8893-7.
-
(1986)
Proc. Natl. Acad. Sci. U.S.A
, vol.83
, Issue.23
, pp. 8893-8897
-
-
Bray, P.1
Carter, A.2
Simons, C.3
Guo, V.4
Puckett, C.5
Kamholz, J.6
Spiegel, A.7
Nirenberg, M.8
-
26
-
-
0022996122
-
Molecular basis for two forms of the G protein that stimulates adenylate cyclase
-
Robishaw, J.D., Smigel, M.D., Gilman, A.G. Molecular basis for two forms of the G protein that stimulates adenylate cyclase. J. Biol. Chem. 1986, 261(21): 9587-90.
-
(1986)
J. Biol. Chem
, vol.261
, Issue.21
, pp. 9587-9590
-
-
Robishaw, J.D.1
Smigel, M.D.2
Gilman, A.G.3
-
27
-
-
0019888557
-
The regulatory component of adenylate cyclase. Purification and properties
-
Sternweis, P.C., Northup, J.K., Smigel, M.D., Gilman, A.G. The regulatory component of adenylate cyclase. Purification and properties. J. Biol. Chem. 1981, 256(22): 11517-26.
-
(1981)
J. Biol. Chem
, vol.256
, Issue.22
, pp. 11517-11526
-
-
Sternweis, P.C.1
Northup, J.K.2
Smigel, M.D.3
Gilman, A.G.4
-
28
-
-
0024854848
-
Increase in Gs and cyclic AMP generation in HIT cells. Evidence that the 45-kDa alpha-subunit of Gs has greater functional activity than the 52-kDa alpha-subunit
-
Walseth, T.F., Zhang, H.J., Olson, L.K., Schroeder, W.A., Robertson, R.P. Increase in Gs and cyclic AMP generation in HIT cells. Evidence that the 45-kDa alpha-subunit of Gs has greater functional activity than the 52-kDa alpha-subunit. J. Biol. Chem. 1989, 264(35): 21106-11.
-
(1989)
J. Biol. Chem
, vol.264
, Issue.35
, pp. 21106-21111
-
-
Walseth, T.F.1
Zhang, H.J.2
Olson, L.K.3
Schroeder, W.A.4
Robertson, R.P.5
-
29
-
-
0024476804
-
Expression of Gs alpha in Escherichia coli. Purification and properties of two forms of the protein
-
Graziano, M.P., Freissmuth, M., Gilman, A.G. Expression of Gs alpha in Escherichia coli. Purification and properties of two forms of the protein. J. Biol. Chem. 1989, 264(1): 409-18.
-
(1989)
J. Biol. Chem
, vol.264
, Issue.1
, pp. 409-418
-
-
Graziano, M.P.1
Freissmuth, M.2
Gilman, A.G.3
-
30
-
-
0032570329
-
Different effects of Gsalpha splice variants on beta2-adrenoreceptor-mediated signaling. The beta2-adreno-receptor coupled to the long splice variant of Gsalpha has properties of a constitutively active receptor
-
Seifert, R., Wenzel-Seifert, K., Lee, T.W., Gether, U., Sanders-Bush, E., Kobilka, B.K. Different effects of Gsalpha splice variants on beta2-adrenoreceptor-mediated signaling. The beta2-adreno-receptor coupled to the long splice variant of Gsalpha has properties of a constitutively active receptor. J. Biol. Chem. 1998, 273(9): 5109-16.
-
(1998)
J. Biol. Chem
, vol.273
, Issue.9
, pp. 5109-5116
-
-
Seifert, R.1
Wenzel-Seifert, K.2
Lee, T.W.3
Gether, U.4
Sanders-Bush, E.5
Kobilka, B.K.6
-
31
-
-
0028063524
-
The short and long forms of the alpha subunit of the stimulatory guanine-nucleotide-binding protein are unequally redistributed during (-)- isoproterenol-mediated desensitization of intact S49 lymphoma, cells
-
Kvapil, P., Novotny, J., Svoboda, P., Ransnas, L.A. The short and long forms of the alpha subunit of the stimulatory guanine-nucleotide-binding protein are unequally redistributed during (-)- isoproterenol-mediated desensitization of intact S49 lymphoma, cells. Eur. J. Biochem. 1994, 226(1): 193-9.
-
(1994)
Eur. J. Biochem
, vol.226
, Issue.1
, pp. 193-199
-
-
Kvapil, P.1
Novotny, J.2
Svoboda, P.3
Ransnas, L.A.4
-
32
-
-
0029805806
-
Long-term effect of forskolin on the activation of adenylyl cyclase in astrocytes
-
el Jamali, A., Rachdaoui, N., Jacquemin, C., Correze, C. Long-term effect of forskolin on the activation of adenylyl cyclase in astrocytes. J. Neurochem. 1996, 67(6): 2532-9.
-
(1996)
J. Neurochem
, vol.67
, Issue.6
, pp. 2532-2539
-
-
el Jamali, A.1
Rachdaoui, N.2
Jacquemin, C.3
Correze, C.4
-
33
-
-
0030008669
-
G protein expression in human fetoplacental vascularization. Functional evidence for Gs alpha and Gi alpha subunits
-
Bourgeois, C., Duc-Goiran, P., Robert, B., Mondon, F., Ferre, F. G protein expression in human fetoplacental vascularization. Functional evidence for Gs alpha and Gi alpha subunits. J. Mol. Cell Cardiol. 1996, 28(5): 1009-21.
-
(1996)
J. Mol. Cell Cardiol
, vol.28
, Issue.5
, pp. 1009-1021
-
-
Bourgeois, C.1
Duc-Goiran, P.2
Robert, B.3
Mondon, F.4
Ferre, F.5
-
34
-
-
34249862513
-
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency
-
Thiele, S., Werner, R., Ahrens, W., Hoppe, U., Marschke, C., Staedt, P., Hiort, O. A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. J. Clin. Endocrinol. Metab. 2007, 92(5): 1764-8.
-
(2007)
J. Clin. Endocrinol. Metab
, vol.92
, Issue.5
, pp. 1764-1768
-
-
Thiele, S.1
Werner, R.2
Ahrens, W.3
Hoppe, U.4
Marschke, C.5
Staedt, P.6
Hiort, O.7
-
35
-
-
0027193432
-
Neural expression of a novel alternatively spliced and polyadenylated Gs alpha transcript
-
Crawford, J.A., Mutchler, K.J., Sullivan, B.E., Lanigan, T.M., Clark, M.S., Russo, A.F. Neural expression of a novel alternatively spliced and polyadenylated Gs alpha transcript. J. Biol. Chem. 1993, 268(13): 9879-85.
-
(1993)
J. Biol. Chem
, vol.268
, Issue.13
, pp. 9879-9885
-
-
Crawford, J.A.1
Mutchler, K.J.2
Sullivan, B.E.3
Lanigan, T.M.4
Clark, M.S.5
Russo, A.F.6
-
36
-
-
0032544019
-
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
-
Hayward, B., Kamiya, M., Strain, L., Moran, V., Campbell, R., Hayashizaki, Y., Bronthon, D.T. 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.1
Kamiya, M.2
Strain, L.3
Moran, V.4
Campbell, R.5
Hayashizaki, Y.6
Bronthon, D.T.7
-
37
-
-
0032433682
-
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
-
Hayward, B.E., Moran, V., Strain, L., Bonthron, D.T. 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
Bonthron, D.T.4
-
38
-
-
0034740058
-
Gαs transcripts are biallelically expressed in the human kidney cortex: Implications for pseudohypoparathyroidism type Ib
-
Zheng, H., Radeva, G., McCann, J.A., Hendy, G.N., Goodyer, C.G. Gαs transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type Ib. J. Clin. Endocrinol. Metab. 2001, 86(10): 4627-9.
-
(2001)
J. Clin. Endocrinol. Metab
, vol.86
, Issue.10
, pp. 4627-4629
-
-
Zheng, H.1
Radeva, G.2
McCann, J.A.3
Hendy, G.N.4
Goodyer, C.G.5
-
39
-
-
0028068226
-
Parental origin of transcription from the human GNAS1 gene
-
Campbell, R., Gosden, C.M., Bonthron, D.T. Parental origin of transcription from the human GNAS1 gene. J. Med. Genet. 1994, 31: 607-14.
-
(1994)
J. Med. Genet
, vol.31
, pp. 607-614
-
-
Campbell, R.1
Gosden, C.M.2
Bonthron, D.T.3
-
40
-
-
0032555241
-
sα gene
-
sα 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
Lee, R.5
Corria, Z.6
Accili, D.7
Westphal, H.8
Weinstein, L.S.9
-
41
-
-
26844542000
-
A Mouse Model of Albright Hereditary Osteodystrophy Generated by Targeted Disruption of Exon 1 of the Gnas Gene
-
Germain-Lee, E.L., Schwindinger, W., Crane, J.L., Zewdu, R., Zweifel, L.S., Wand, G., Huso, D.L., Saji, M., Ringel, M.D., Levine, M.A. A Mouse Model of Albright Hereditary Osteodystrophy Generated by Targeted Disruption of Exon 1 of the Gnas Gene. Endocrinology 2005, 146(11): 4697-709.
-
(2005)
Endocrinology
, vol.146
, Issue.11
, 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
Huso, D.L.7
Saji, M.8
Ringel, M.D.9
Levine, M.A.10
-
42
-
-
1942517842
-
Tissue-specific imprinting of the G protein Gsalpha is associated with tissue-specific differences in histone methylation
-
Sakamoto, A., Liu, J., Greene, A., Chen, M., Weinstein, L.S. Tissue-specific imprinting of the G protein Gsalpha is associated with tissue-specific differences in histone methylation. Hum. Mol. Genet. 2004, 13(8): 819-28.
-
(2004)
Hum. Mol. Genet
, vol.13
, Issue.8
, pp. 819-828
-
-
Sakamoto, A.1
Liu, J.2
Greene, A.3
Chen, M.4
Weinstein, L.S.5
-
43
-
-
0035106246
-
Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly
-
Hayward, B., Barlier, A., Korbonits, M., Grossman, A., Jacquet, P., Enjalbert, A., Bonthron, D. 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
-
-
Hayward, B.1
Barlier, A.2
Korbonits, M.3
Grossman, A.4
Jacquet, P.5
Enjalbert, A.6
Bonthron, D.7
-
44
-
-
0036771614
-
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): 4736-40.
-
(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
-
45
-
-
0035982094
-
Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
-
Germain-Lee, E.L., Ding, C.L., Deng, Z., Crane, J.L., Saji, M., Ringel, M.D., Levine, M.A. 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
Crane, J.L.4
Saji, M.5
Ringel, M.D.6
Levine, M.A.7
-
46
-
-
10344231982
-
Biallelic expression of the Gsalpha gene in human bone and adipose tissue
-
Mantovani, G., Bondioni, S., Locatelli, M., Pedroni, C., Lania, A.G., Ferrante, E., Filopanti, M., Beck-Peccoz, P., Spada, A. Biallelic expression of the Gsalpha gene in human bone and adipose tissue. J. Clin. Endocrinol. Metab. 2004, 89(12): 6316-9.
-
(2004)
J. Clin. Endocrinol. Metab
, vol.89
, Issue.12
, pp. 6316-6319
-
-
Mantovani, G.1
Bondioni, S.2
Locatelli, M.3
Pedroni, C.4
Lania, A.G.5
Ferrante, E.6
Filopanti, M.7
Beck-Peccoz, P.8
Spada, A.9
-
47
-
-
34548439380
-
GNAS transcripts in skeletal progenitors: Evidence for random asymmetric allelic expression of Gs{alpha}
-
Michienzi, S., Cherman, N., Holmbeck, K., Funari, A., Collins, M.T., Bianco, P., Robey, P.G., Riminucci, M. GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs{alpha}. Hum. Mol. Genet. 2007, 16(16): 1921-30.
-
(2007)
Hum. Mol. Genet
, vol.16
, Issue.16
, pp. 1921-1930
-
-
Michienzi, S.1
Cherman, N.2
Holmbeck, K.3
Funari, A.4
Collins, M.T.5
Bianco, P.6
Robey, P.G.7
Riminucci, M.8
-
48
-
-
33846695563
-
Regulation of renin in mice with cre recombinase-mediated deletion of G protein Gs{alpha} in juxtaglomerular cells
-
Chen, L., Kim, S.M., Oppermann, M., Faulhaber-Walter, R., Huang, Y.G., Mizel, D., Chen, M., Sequeira Lopez, M.L., Weinstein, L.S., Gomez, R.A., Briggs, J.P., Schnermann, J.B. Regulation of renin in mice with cre recombinase-mediated deletion of G protein Gs{alpha} in juxtaglomerular cells. Am. J. Physiol. Renal Physiol. 2006.
-
(2006)
Am. J. Physiol. Renal Physiol
-
-
Chen, L.1
Kim, S.M.2
Oppermann, M.3
Faulhaber-Walter, R.4
Huang, Y.G.5
Mizel, D.6
Chen, M.7
Sequeira Lopez, M.L.8
Weinstein, L.S.9
Gomez, R.A.10
Briggs, J.P.11
Schnermann, J.B.12
-
49
-
-
27644581888
-
Increased glucose tolerance and reduced adiposity in the absence of fasting hypoglycemia in mice with liver-specific Gs alpha deficiency
-
Chen, M., Gavrilova, O., Zhao, W.Q., Nguyen, A., Lorenzo, J., Shen, L., Nackers, L., Pack, S., Jou, W., Weinstein, L.S. Increased glucose tolerance and reduced adiposity in the absence of fasting hypoglycemia in mice with liver-specific Gs alpha deficiency. J. Clin. Invest. 2005, 115(11): 3217-27.
-
(2005)
J. Clin. Invest
, vol.115
, Issue.11
, pp. 3217-3227
-
-
Chen, M.1
Gavrilova, O.2
Zhao, W.Q.3
Nguyen, A.4
Lorenzo, J.5
Shen, L.6
Nackers, L.7
Pack, S.8
Jou, W.9
Weinstein, L.S.10
-
50
-
-
15344349695
-
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, H.M., Weinstein, L.S. 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(4): 663-71.
-
(2005)
J. Bone Miner. Res
, vol.20
, Issue.4
, pp. 663-671
-
-
Sakamoto, A.1
Chen, M.2
Kobayashi, T.3
Kronenberg, H.M.4
Weinstein, L.S.5
-
51
-
-
20444397369
-
Deficiency of the G protein alpha -subunit Gsalpha in osteoblasts leads to differential effects on trabecular and cortical bone
-
Sakamoto, A., Chen, M., Nakamura, T., Xie, T., Karsenty, G., Weinstein, L.S. Deficiency of the G protein alpha -subunit Gsalpha in osteoblasts leads to differential effects on trabecular and cortical bone. J. Biol. Chem. 2005.
-
(2005)
J. Biol. Chem
-
-
Sakamoto, A.1
Chen, M.2
Nakamura, T.3
Xie, T.4
Karsenty, G.5
Weinstein, L.S.6
-
52
-
-
0033616719
-
A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2
-
Peters, J., Wroe, S.F., Wells, C.A., Miller, H.J., Bodle, D., Beechey, C.V., Williamson, C.M., Kelsey, G. A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc. Natl. Acad. Sci. U.S.A. 1999, 96: 3830-5.
-
(1999)
Proc. Natl. Acad. Sci. U.S.A
, vol.96
, pp. 3830-3835
-
-
Peters, J.1
Wroe, S.F.2
Wells, C.A.3
Miller, H.J.4
Bodle, D.5
Beechey, C.V.6
Williamson, C.M.7
Kelsey, G.8
-
53
-
-
0030998512
-
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: 11657-62.
-
(1997)
J. Biol. Chem
, vol.272
, pp. 11657-11662
-
-
Ischia, R.1
Lovisetti-Scamihorn, P.2
Hogue-Angeletti, R.3
Wolkersdorfer, M.4
Winkler, H.5
Fischer-Colbrie, R.6
-
54
-
-
0033594777
-
Relative amounts and molecular forms of NESP55 in various bovine tissues
-
Lovisetti-Scamihorn, P., Fischer-Colbrie, R., Leitner, B., Scherzer, G., Winkler, H. Relative amounts and molecular forms of NESP55 in various bovine tissues. Brain Res. 1999, 829(1-2): 99-106.
-
(1999)
Brain Res
, vol.829
, Issue.1-2
, pp. 99-106
-
-
Lovisetti-Scamihorn, P.1
Fischer-Colbrie, R.2
Leitner, B.3
Scherzer, G.4
Winkler, H.5
-
55
-
-
0034015392
-
Neuroendocrine secretory protein 55 (NESP55): Alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein
-
Weiss, U., Ischia, R., Eder, S., Lovisetti-Scamihorn, P., Bauer, R., Fischer-Colbrie, R. Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein. Neuroendocrinology 2000, 71(3): 177-86.
-
(2000)
Neuroendocrinology
, vol.71
, Issue.3
, pp. 177-186
-
-
Weiss, U.1
Ischia, R.2
Eder, S.3
Lovisetti-Scamihorn, P.4
Bauer, R.5
Fischer-Colbrie, R.6
-
56
-
-
0033583183
-
The new chromogranin-like protein NESP55 is preferentially localized in adrenaline-synthesizing cells of the bovine and rat adrenal medulla
-
Bauer, R., Weiss, C., Marksteiner, J., Doblinger, A., Fischer-Colbrie, R., Laslop, A. The new chromogranin-like protein NESP55 is preferentially localized in adrenaline-synthesizing cells of the bovine and rat adrenal medulla. Neurosci. Lett. 1999, 263(1): 13-6.
-
(1999)
Neurosci. Lett
, vol.263
, Issue.1
, pp. 13-16
-
-
Bauer, R.1
Weiss, C.2
Marksteiner, J.3
Doblinger, A.4
Fischer-Colbrie, R.5
Laslop, A.6
-
57
-
-
0037024678
-
Neuroendocrine secretory protein 55: A novel marker for the constitutive secretory pathway
-
Fischer-Colbrie, R., Eder, S., Lovisetti-Scamihorn, P., Becker, A., Laslop, A. Neuroendocrine secretory protein 55: a novel marker for the constitutive secretory pathway. Ann. N. Y. Acad. Sci. 2002, 971: 317-22.
-
(2002)
Ann. N. Y. Acad. Sci
, vol.971
, pp. 317-322
-
-
Fischer-Colbrie, R.1
Eder, S.2
Lovisetti-Scamihorn, P.3
Becker, A.4
Laslop, A.5
-
58
-
-
0037012464
-
Distribution and intraneuronal trafficking of a novel member of the chromogranin family, NESP55, in the rat peripheral nervous system
-
Li, J.Y., Lovisetti-Scamihorn, P., Fischer-Colbrie, R., Winkler, H., Dahlstrom, A. Distribution and intraneuronal trafficking of a novel member of the chromogranin family, NESP55, in the rat peripheral nervous system. Neuroscience 2002, 110(4): 731-45.
-
(2002)
Neuroscience
, vol.110
, Issue.4
, pp. 731-745
-
-
Li, J.Y.1
Lovisetti-Scamihorn, P.2
Fischer-Colbrie, R.3
Winkler, H.4
Dahlstrom, A.5
-
59
-
-
11244289338
-
Secretion and molecular forms of NESP55, a novel genomically imprinted neuroendocrine-specific protein from AtT-20 cells
-
Eder, S., Leierer, J., Klimaschewski, L., Wilhelm, A., Volknandt, W., Laslop, A., Fischer-Colbrie, R. Secretion and molecular forms of NESP55, a novel genomically imprinted neuroendocrine-specific protein from AtT-20 cells. Neurosignals 2004, 13(6): 298-307.
-
(2004)
Neurosignals
, vol.13
, Issue.6
, pp. 298-307
-
-
Eder, S.1
Leierer, J.2
Klimaschewski, L.3
Wilhelm, A.4
Volknandt, W.5
Laslop, A.6
Fischer-Colbrie, R.7
-
60
-
-
16244411099
-
Imprinted Nesp55 influences behavioral reactivity to novel environments
-
Plagge, A., Isles, A.R., Gordon, E., Humby, T., Dean, W., Gritsch, S., Fischer-Colbrie, R., Wilkinson, L.S., Kelsey, G. Imprinted Nesp55 influences behavioral reactivity to novel environments. Mol. Cell Biol. 2005, 25(8): 3019-26.
-
(2005)
Mol. Cell Biol
, vol.25
, Issue.8
, pp. 3019-3026
-
-
Plagge, A.1
Isles, A.R.2
Gordon, E.3
Humby, T.4
Dean, W.5
Gritsch, S.6
Fischer-Colbrie, R.7
Wilkinson, L.S.8
Kelsey, G.9
-
61
-
-
0032953392
-
Localization of neuroendocrine secretory protein 55 messenger RNA in the rat brain
-
Bauer, R., Ischia, R., Marksteiner, J., Kapeller, I., Fischer-Colbrie, R. Localization of neuroendocrine secretory protein 55 messenger RNA in the rat brain. Neuroscience 1999, 91(2): 685-94.
-
(1999)
Neuroscience
, vol.91
, Issue.2
, pp. 685-694
-
-
Bauer, R.1
Ischia, R.2
Marksteiner, J.3
Kapeller, I.4
Fischer-Colbrie, R.5
-
62
-
-
36248993369
-
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., 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.
-
(2007)
Clin. Endocrinol. (Oxf)
-
-
Linglart, A.1
Bastepe, M.2
Jüppner, H.3
-
63
-
-
0033762171
-
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB
-
Liu, J., Litman, D., Rosenberg, M., Yu, S., Biesecker, L., Weinstein, L. 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.3
Yu, S.4
Biesecker, L.5
Weinstein, L.6
-
64
-
-
0028670789
-
-
Kehlenbach, R.H., Matthey, J., Huttner, W.B. XLαs is a new type of G protein (Erratum in Nature 1995 375:253). Nature 1994, 372: 804-9.
-
Kehlenbach, R.H., Matthey, J., Huttner, W.B. XLαs is a new type of G protein (Erratum in Nature 1995 375:253). Nature 1994, 372: 804-9.
-
-
-
-
65
-
-
0034331227
-
Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus
-
Li, T., Vu, T.H., Zeng, Z.L., Nguyen, B.T., Hayward, B.E., Bonthron, D.T., Hu, J.F., Hoffman, A.R. 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
Nguyen, B.T.4
Hayward, B.E.5
Bonthron, D.T.6
Hu, J.F.7
Hoffman, A.R.8
-
66
-
-
0034721880
-
Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization
-
Pasolli, H., Klemke, M., Kehlenbach, R., Wang, Y., Huttner, W. Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization. J. Biol. Chem. 2000, 275: 33622-32.
-
(2000)
J. Biol. Chem
, vol.275
, pp. 33622-33632
-
-
Pasolli, H.1
Klemke, M.2
Kehlenbach, R.3
Wang, Y.4
Huttner, W.5
-
67
-
-
3543036987
-
The imprinted signaling protein XLalphas is required for postnatal adaptation to feeding
-
Plagge, A., Gordon, E., Dean, W., Boiani, R., Cinti, S., Peters, J., Kelsey, G. The imprinted signaling protein XLalphas is required for postnatal adaptation to feeding. Nat. Genet. 2004, 36(8): 818-26.
-
(2004)
Nat. Genet
, vol.36
, Issue.8
, pp. 818-826
-
-
Plagge, A.1
Gordon, E.2
Dean, W.3
Boiani, R.4
Cinti, S.5
Peters, J.6
Kelsey, G.7
-
68
-
-
0035970852
-
Expression of the extra-large G protein alpha-subunit XLalphas in neuroepithelial cells and young neurons during development of the rat nervous system
-
Pasolli, H., Huttner, W. Expression of the extra-large G protein alpha-subunit XLalphas in neuroepithelial cells and young neurons during development of the rat nervous system. Neurosci. Lett. 2001, 301: 119-22.
-
(2001)
Neurosci. Lett
, vol.301
, pp. 119-122
-
-
Pasolli, H.1
Huttner, W.2
-
69
-
-
0034721886
-
Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties
-
Klemke, M., Pasolli, H., Kehlenbach, R., Offermanns, S., Schultz, G., Huttner, W. Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties. J. Biol. Chem. 2000, 275: 33633-40.
-
(2000)
J. Biol. Chem
, vol.275
, pp. 33633-33640
-
-
Klemke, M.1
Pasolli, H.2
Kehlenbach, R.3
Offermanns, S.4
Schultz, G.5
Huttner, W.6
-
70
-
-
33645888144
-
Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3′,5′-monophosphate formation mediated by human XLαs
-
Linglart, A., Mahon, M.J., Kerachian, M.A., Berlach, D.M., Hendy, G.N., Jüppner, 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 XLαs. Endocrinology 2006, 147(5): 2253-62.
-
(2006)
Endocrinology
, vol.147
, Issue.5
, pp. 2253-2262
-
-
Linglart, A.1
Mahon, M.J.2
Kerachian, M.A.3
Berlach, D.M.4
Hendy, G.N.5
Jüppner, H.6
Bastepe, M.7
-
71
-
-
0036020511
-
Receptor-Mediated Adenylyl Cyclase Activation Through XLalphas, the Extra-Large Variant of the Stimulatory G Protein alpha-Subunit
-
Bastepe, M., Gunes, Y., Perez-Villamil, B., Hunzelman, J., Weinstein, L.S., Jüppner, H. Receptor-Mediated Adenylyl Cyclase Activation Through XLalphas, the Extra-Large Variant of the Stimulatory G Protein alpha-Subunit. Mol. Endocrinol. 2002, 16(8): 1912-9.
-
(2002)
Mol. Endocrinol
, vol.16
, Issue.8
, pp. 1912-1919
-
-
Bastepe, M.1
Gunes, Y.2
Perez-Villamil, B.3
Hunzelman, J.4
Weinstein, L.S.5
Jüppner, H.6
-
72
-
-
2942562178
-
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, H.N., 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. Sci. U.S.A. 2004, 101(22): 8366-71.
-
(2004)
Proc. Natl. Acad. Sci. U.S.A
, vol.101
, Issue.22
, pp. 8366-8371
-
-
Abramowitz, J.1
Grenet, D.2
Birnbaumer, M.3
Torres, H.N.4
Birnbaumer, L.5
-
73
-
-
0035898609
-
Two overlapping reading frames in a single exon encode interacting proteins - a novel way of gene usage
-
Klemke, M., Kehlenbach, R.H., Huttner, W.B. Two overlapping reading frames in a single exon encode interacting proteins - a novel way of gene usage. EMBO J. 2001, 20(14): 3849-60.
-
(2001)
EMBO J
, vol.20
, Issue.14
, pp. 3849-3860
-
-
Klemke, M.1
Kehlenbach, R.H.2
Huttner, W.B.3
-
74
-
-
0038778398
-
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation
-
Freson, K., Jaeken, J., Van Helvoirt, M., de Zegher, F., Wittevrongel, C., Thys, C., Hoylaerts, M.F., Vermylen, J., Van Geet, C. Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. Hum. Mol. Genet. 2003, 12(10): 1121-30.
-
(2003)
Hum. Mol. Genet
, vol.12
, Issue.10
, pp. 1121-1130
-
-
Freson, K.1
Jaeken, J.2
Van Helvoirt, M.3
de Zegher, F.4
Wittevrongel, C.5
Thys, C.6
Hoylaerts, M.F.7
Vermylen, J.8
Van Geet, C.9
-
75
-
-
0034840142
-
Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding
-
Freson, K., Hoylaerts, M.F., Jaeken, J., Eyssen, M., Arnout, J., Vermylen, J., Van Geet, C. Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding. Thromb. Haemost. 2001, 86(3): 733-8.
-
(2001)
Thromb. Haemost
, vol.86
, Issue.3
, pp. 733-738
-
-
Freson, K.1
Hoylaerts, M.F.2
Jaeken, J.3
Eyssen, M.4
Arnout, J.5
Vermylen, J.6
Van Geet, C.7
-
76
-
-
33745806530
-
The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice
-
Xie, T., Plagge, A., Gavrilova, O., Pack, S., Jou, W., Lai, E.W., Frontera, M., Kelsey, G., Weinstein, L.S. The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice. J. Biol. Chem. 2006, 281(28): 18989-99.
-
(2006)
J. Biol. Chem
, vol.281
, Issue.28
, pp. 18989-18999
-
-
Xie, T.1
Plagge, A.2
Gavrilova, O.3
Pack, S.4
Jou, W.5
Lai, E.W.6
Frontera, M.7
Kelsey, G.8
Weinstein, L.S.9
-
77
-
-
0035827516
-
Increased insulin sensitivity in Gsalpha knockout mice
-
Yu, S., Castle, A., Chen, M., Lee, R., Takeda, K., Weinstein, L.S. Increased insulin sensitivity in Gsalpha knockout mice. J. Biol. Chem. 2001, 276(23): 19994-8.
-
(2001)
J. Biol. Chem
, vol.276
, Issue.23
, pp. 19994-19998
-
-
Yu, S.1
Castle, A.2
Chen, M.3
Lee, R.4
Takeda, K.5
Weinstein, L.S.6
-
78
-
-
0034018370
-
Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism
-
Yu, S., Gavrilova, O., Chen, H., Lee, R., Liu, J., Pacak, K., Parlow, A., Quon, M., Reitman, M., Weinstein, L. Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism. J. Clin. Invest. 2000, 105: 615-23.
-
(2000)
J. Clin. Invest
, vol.105
, pp. 615-623
-
-
Yu, S.1
Gavrilova, O.2
Chen, H.3
Lee, R.4
Liu, J.5
Pacak, K.6
Parlow, A.7
Quon, M.8
Reitman, M.9
Weinstein, L.10
-
79
-
-
4344618148
-
Increased insulin sensitivity in paternal Gnas knockout mice is associated with increased lipid clearance
-
Chen, M., Haluzik, M., Wolf, N.J., Lorenzo, J., Dietz, K.R., Reitman, M.L., Weinstein, L.S. Increased insulin sensitivity in paternal Gnas knockout mice is associated with increased lipid clearance. Endocrinology 2004, 145(9): 4094-102.
-
(2004)
Endocrinology
, vol.145
, Issue.9
, pp. 4094-4102
-
-
Chen, M.1
Haluzik, M.2
Wolf, N.J.3
Lorenzo, J.4
Dietz, K.R.5
Reitman, M.L.6
Weinstein, L.S.7
-
80
-
-
0036426326
-
The imprinted oedematous-small mutation on mouse chromosome 2 identifies new roles for gnas and gnasx1 in development
-
Skinner, J., Cattanach, B., Peters, J. The imprinted oedematous-small mutation on mouse chromosome 2 identifies new roles for gnas and gnasx1 in development. Genomics 2002, 80(4): 373.
-
(2002)
Genomics
, vol.80
, Issue.4
, pp. 373
-
-
Skinner, J.1
Cattanach, B.2
Peters, J.3
-
81
-
-
3543006557
-
A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas
-
Williamson, C.M., Ball, S.T., Nottingham, W.T., Skinner, J.A., Plagge, A., Turner, M.D., Powles, N., Hough, T., Papworth, D., Fraser, W.D., Maconochie, M., Peters, J. A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat. Genet. 2004, 36(8): 894-9.
-
(2004)
Nat. Genet
, vol.36
, Issue.8
, pp. 894-899
-
-
Williamson, C.M.1
Ball, S.T.2
Nottingham, W.T.3
Skinner, J.A.4
Plagge, A.5
Turner, M.D.6
Powles, N.7
Hough, T.8
Papworth, D.9
Fraser, W.D.10
Maconochie, M.11
Peters, J.12
-
82
-
-
21044439497
-
Alternative Gnas gene products have opposite effects on glucose and lipid metabolism
-
Chen, M., Gavrilova, O., Liu, J., Xie, T., Deng, C., Nguyen, A.T., Nackers, L.M., Lorenzo, J., Shen, L., Weinstein, L.S. Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. Proc. Natl. Acad. Sci. U.S.A. 2005, 102(20): 7386-91.
-
(2005)
Proc. Natl. Acad. Sci. U.S.A
, vol.102
, Issue.20
, pp. 7386-7391
-
-
Chen, M.1
Gavrilova, O.2
Liu, J.3
Xie, T.4
Deng, C.5
Nguyen, A.T.6
Nackers, L.M.7
Lorenzo, J.8
Shen, L.9
Weinstein, L.S.10
-
83
-
-
27244433456
-
Paternal deletion of the GNAS imprinted locus (including Gnasx1) in two girls presenting with severe pre- and postnatal growth retardation and intractable feeding difficulties
-
Genevieve, D., Sanlaville, D., Faivre, L., Kottler, M.L., Jambou, M., Gosset, P., Boustani-Samara, D., Pinto, G., Ozilou, C., Abeguile, G., Munnich, A., Romana, S., Raoul, O., Cormier-Daire, V., Vekemans, M. Paternal deletion of the GNAS imprinted locus (including Gnasx1) in two girls presenting with severe pre- and postnatal growth retardation and intractable feeding difficulties. Eur. J. Hum. Genet. 2005, 13(9): 1033-9.
-
(2005)
Eur. J. Hum. Genet
, vol.13
, Issue.9
, pp. 1033-1039
-
-
Genevieve, D.1
Sanlaville, D.2
Faivre, L.3
Kottler, M.L.4
Jambou, M.5
Gosset, P.6
Boustani-Samara, D.7
Pinto, G.8
Ozilou, C.9
Abeguile, G.10
Munnich, A.11
Romana, S.12
Raoul, O.13
Cormier-Daire, V.14
Vekemans, M.15
-
84
-
-
0025814814
-
Differential expression of novel Gs alpha signal transduction protein cDNA species
-
Swaroop, A., Agarwal, N., Gruen, J.R., Bick, D., Weissman, S.M. Differential expression of novel Gs alpha signal transduction protein cDNA species. Nucleic Acids Res. 1991, 19(17): 4725-9.
-
(1991)
Nucleic Acids Res
, vol.19
, Issue.17
, pp. 4725-4729
-
-
Swaroop, A.1
Agarwal, N.2
Gruen, J.R.3
Bick, D.4
Weissman, S.M.5
-
85
-
-
0033865243
-
Identification of a methylation imprint mark within the mouse gnas locus
-
Liu, J., Yu, S., Litman, D., Chen, W., Weinstein, L. Identification of a methylation imprint mark within the mouse gnas locus. Mol. Cell Biol. 2000, 20: 5808-17.
-
(2000)
Mol. Cell Biol
, vol.20
, pp. 5808-5817
-
-
Liu, J.1
Yu, S.2
Litman, D.3
Chen, W.4
Weinstein, L.5
-
86
-
-
0025289782
-
Alternative promoter and 5′ exon generate a novel G,α mRNA
-
Ishikawa, Y., Bianchi, C., Nadal-Ginard, B., Homey, C.J. Alternative promoter and 5′ exon generate a novel G,α mRNA. J. Biol. Chem. 1990, 265: 8458-62.
-
(1990)
J. Biol. Chem
, vol.265
, pp. 8458-8462
-
-
Ishikawa, Y.1
Bianchi, C.2
Nadal-Ginard, B.3
Homey, C.J.4
-
87
-
-
1842533526
-
Activating and silencing histone modifications form independent allelic switch regions in the imprinted Gnas gene
-
Li, T., Vu, T.H., Ulaner, G.A., Yang, Y., Hu, J.F., Hoffman, A.R. Activating and silencing histone modifications form independent allelic switch regions in the imprinted Gnas gene. Hum. Mol. Genet. 2004, 13(7): 741-50.
-
(2004)
Hum. Mol. Genet
, vol.13
, Issue.7
, pp. 741-750
-
-
Li, T.1
Vu, T.H.2
Ulaner, G.A.3
Yang, Y.4
Hu, J.F.5
Hoffman, A.R.6
-
88
-
-
17244363516
-
Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit
-
Liu, J., Chen, M., Deng, C., Bourc'his, D., Nealon, J.G., Erlichman, B., Bestor, T.H., Weinstein, L.S. Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit. Proc. Natl. Acad. Sci. U.S.A. 2005, 102(15): 5513-8.
-
(2005)
Proc. Natl. Acad. Sci. U.S.A
, vol.102
, Issue.15
, pp. 5513-5518
-
-
Liu, J.1
Chen, M.2
Deng, C.3
Bourc'his, D.4
Nealon, J.G.5
Erlichman, B.6
Bestor, T.H.7
Weinstein, L.S.8
-
89
-
-
0035362592
-
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, J.E., Sugimoto, T., Tojo, K., Kanatani, M., Azuma, Y., Kruse, K., Rosenbloom, A.L., Koshiyama, H., Jüppner, H. 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
Tojo, K.4
Kanatani, M.5
Azuma, Y.6
Kruse, K.7
Rosenbloom, A.L.8
Koshiyama, H.9
Jüppner, H.10
-
90
-
-
0035013623
-
Paternal uniparental isodisomy of chromosome 20q (patUPD20q) - and the resulting changes in GNAS1 methylation - as a plausible cause of pseudohypoparathyroidism
-
Bastepe, M., Lane, A.H., Jüppner, H. Paternal uniparental isodisomy of chromosome 20q (patUPD20q) - 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
-
91
-
-
0034713375
-
Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
-
Bell, A.C., Felsenfeld, G. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature 2000, 405(6785): 482-5.
-
(2000)
Nature
, vol.405
, Issue.6785
, pp. 482-485
-
-
Bell, A.C.1
Felsenfeld, G.2
-
92
-
-
0034713275
-
CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
-
Hark, A.T., Schoenherr, C.J., Katz, D.J., Ingram, R.S., Levorse, J.M., Tilghman, S.M. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 2000, 405 (6785): 486-9.
-
(2000)
Nature
, vol.405
, Issue.6785
, pp. 486-489
-
-
Hark, A.T.1
Schoenherr, C.J.2
Katz, D.J.3
Ingram, R.S.4
Levorse, J.M.5
Tilghman, S.M.6
-
93
-
-
0034701294
-
An imprinted antisense transcript at the human GNAS1 locus
-
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
-
94
-
-
0034724290
-
An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus
-
Wroe, S.F., Kelsey, G., Skinner, J.A., Bodle, D., Ball, S.T., Beechey, C.V., Peters, J., Williamson, C.M. 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
Bodle, D.4
Ball, S.T.5
Beechey, C.V.6
Peters, J.7
Williamson, C.M.8
-
95
-
-
0041631077
-
Epigenetic properties and identification of an imprint mark in the Nesp-Gnasx1 domain of the mouse Gnas imprinted locus
-
Coombes, C., Arnaud, P., Gordon, E., Dean, W., Coar, E.A., Williamson, C.M., Feil, R., Peters, J., Kelsey, G. Epigenetic properties and identification of an imprint mark in the Nesp-Gnasx1 domain of the mouse Gnas imprinted locus. Mol. Cell Biol. 2003, 23(16): 5475-88.
-
(2003)
Mol. Cell Biol
, vol.23
, Issue.16
, pp. 5475-5488
-
-
Coombes, C.1
Arnaud, P.2
Gordon, E.3
Dean, W.4
Coar, E.A.5
Williamson, C.M.6
Feil, R.7
Peters, J.8
Kelsey, G.9
-
96
-
-
33644617486
-
Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster
-
Williamson, C.M., Turner, M.D., Ball, S.T., Nottingham, W.T., Glenister, P., Fray, M., Tymowska-Lalanne, Z., Plagge, A., Powles-Glover, N., Kelsey, G., Maconochie, M., Peters, J. 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
Nottingham, W.T.4
Glenister, P.5
Fray, M.6
Tymowska-Lalanne, Z.7
Plagge, A.8
Powles-Glover, N.9
Kelsey, G.10
Maconochie, M.11
Peters, J.12
-
97
-
-
0025127424
-
Two G protein oncogenes in human endocrine tumors
-
Lyons, J., Landis, C.A., Harsh, G., Vallar, L., Grunewald, K., Feichtinger, H., Duh, Q.Y., Clark, O.H., Kawasaki, E., Bourne, H.R., et al. Two G protein oncogenes in human endocrine tumors. Science 1990, 249(4969): 655-9.
-
(1990)
Science
, vol.249
, Issue.4969
, pp. 655-659
-
-
Lyons, J.1
Landis, C.A.2
Harsh, G.3
Vallar, L.4
Grunewald, K.5
Feichtinger, H.6
Duh, Q.Y.7
Clark, O.H.8
Kawasaki, E.9
Bourne, H.R.10
-
98
-
-
0034793851
-
Endocrine Manifestations of Stimulatory G Protein alpha-Subunit Mutations and the Role of Genomic Imprinting
-
Weinstein, L.S., Yu, S., Warner, D.R., Liu, J. Endocrine Manifestations of Stimulatory G Protein alpha-Subunit Mutations 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
-
99
-
-
15444339758
-
Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors
-
Fragoso, M.C., Latronico, A.C., Carvalho, F.M., Zerbini, M.C., Marcondes, J.A., Araujo, L.M., Lando, V.S., Frazzatto, E.T., Mendonca, B.B., Villares, S.M. Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. J. Clin. Endocrinol. Metab. 1998, 83(6): 2074-8.
-
(1998)
J. Clin. Endocrinol. Metab
, vol.83
, Issue.6
, pp. 2074-2078
-
-
Fragoso, M.C.1
Latronico, A.C.2
Carvalho, F.M.3
Zerbini, M.C.4
Marcondes, J.A.5
Araujo, L.M.6
Lando, V.S.7
Frazzatto, E.T.8
Mendonca, B.B.9
Villares, S.M.10
-
100
-
-
33646410139
-
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: A new prognostic factor?
-
Kalfa, N., Ecochard, A., Palle, C., Duvillard, P., Audran, F., Pienkowski, C., Thibaud, E., Brauner, R., Lecointre, C., Plantaz, D., Guedj, A.M., Paris, F., Baldet, P., Lumbroso, S., Sultan, C. Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor? J. Clin. Endocrinol. Metab. 2006, 91(5): 1842-7.
-
(2006)
J. Clin. Endocrinol. Metab
, vol.91
, Issue.5
, pp. 1842-1847
-
-
Kalfa, N.1
Ecochard, A.2
Palle, C.3
Duvillard, P.4
Audran, F.5
Pienkowski, C.6
Thibaud, E.7
Brauner, R.8
Lecointre, C.9
Plantaz, D.10
Guedj, A.M.11
Paris, F.12
Baldet, P.13
Lumbroso, S.14
Sultan, C.15
-
101
-
-
33746514634
-
Activating mutations of Gsalpha in kidney cancer
-
Kalfa, N., Lumbroso, S., Boulle, N., Guiter, J., Soustelle, L., Costa, P., Chapuis, H., Baldet, P., Sultan, C. Activating mutations of Gsalpha in kidney cancer. J. Urol. 2006, 176(3): 891-5.
-
(2006)
J. Urol
, vol.176
, Issue.3
, pp. 891-895
-
-
Kalfa, N.1
Lumbroso, S.2
Boulle, N.3
Guiter, J.4
Soustelle, L.5
Costa, P.6
Chapuis, H.7
Baldet, P.8
Sultan, C.9
-
102
-
-
0030741024
-
Thyroid-specific expression of cholera toxin A1 subunit causes thyroid hyperplasia and hyperthyroidism in transgenic mice
-
Zeiger, M.A., Saji, M., Gusev, Y., Westra, W.H., Takiyama, Y., Dooley, W.C., Kohn, L.D., Levine, M.A. Thyroid-specific expression of cholera toxin A1 subunit causes thyroid hyperplasia and hyperthyroidism in transgenic mice. Endocrinology 1997, 138(8): 3133-40.
-
(1997)
Endocrinology
, vol.138
, Issue.8
, pp. 3133-3140
-
-
Zeiger, M.A.1
Saji, M.2
Gusev, Y.3
Westra, W.H.4
Takiyama, Y.5
Dooley, W.C.6
Kohn, L.D.7
Levine, M.A.8
-
103
-
-
0028116687
-
Expression of mutationally activated G alpha s stimulates growth and differentiation of thyroid FRTL5 cells
-
Muca, C., Vallar, L. Expression of mutationally activated G alpha s stimulates growth and differentiation of thyroid FRTL5 cells. Oncogene 1994, 9(12): 3647-53.
-
(1994)
Oncogene
, vol.9
, Issue.12
, pp. 3647-3653
-
-
Muca, C.1
Vallar, L.2
-
104
-
-
34250840807
-
Conditional overexpression of the wild-type Gs alpha as the gsp oncogene initiates chronic extracellularly regulated kinase 1/2 activation and hormone hypersecretion in pituitary cell lines
-
Romano, D., Magalon, K., Pertuit, M., Rasolonjanahary, R., Barlier, A., Enjalbert, A., Gerard, C. Conditional overexpression of the wild-type Gs alpha as the gsp oncogene initiates chronic extracellularly regulated kinase 1/2 activation and hormone hypersecretion in pituitary cell lines. Endocrinology 2007, 148(6): 2973-83.
-
(2007)
Endocrinology
, vol.148
, Issue.6
, pp. 2973-2983
-
-
Romano, D.1
Magalon, K.2
Pertuit, M.3
Rasolonjanahary, R.4
Barlier, A.5
Enjalbert, A.6
Gerard, C.7
-
105
-
-
0000439832
-
Osteitis fibrosa cystica; the case of a nine-year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism
-
McCune, D. 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.1
-
106
-
-
0001473635
-
Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females
-
Albright, F., Butler, A., Hampton, A., Smith, P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. New Engl. J. Med. 1937, 216: 727-46.
-
(1937)
New Engl. J. Med
, vol.216
, pp. 727-746
-
-
Albright, F.1
Butler, A.2
Hampton, A.3
Smith, P.4
-
107
-
-
0026003074
-
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
-
Weinstein, L.S., Shenker, A., Gejman, P.V., Merino, M.J., Friedman, E., Spiegel, A.M. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. New Engl. J. Med. 1991, 325: 1688-95.
-
(1991)
New Engl. J. Med
, vol.325
, pp. 1688-1695
-
-
Weinstein, L.S.1
Shenker, A.2
Gejman, P.V.3
Merino, M.J.4
Friedman, E.5
Spiegel, A.M.6
-
108
-
-
0026694168
-
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome
-
Schwindinger, W.F., Francomano, C.A., Levine, M.A. 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. U.S.A. 1992, 89(11): 5152-6.
-
(1992)
Proc. Natl. Acad. Sci. U.S.A
, vol.89
, Issue.11
, pp. 5152-5156
-
-
Schwindinger, W.F.1
Francomano, C.A.2
Levine, M.A.3
-
109
-
-
0022654257
-
The McCune-Albright syndrome: A lethal gene surviving by mosaicism
-
Happle, R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin. Genet. 1986, 29(4): 321-4.
-
(1986)
Clin. Genet
, vol.29
, Issue.4
, pp. 321-324
-
-
Happle, R.1
-
110
-
-
0033971782
-
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone
-
Bianco, P., Riminucci, M., Majolagbe, A., Kuznetsov, S.A., Collins, M.T., Mankani, M.H., Corsi, A., Bone, H.G., Wientroub, S., Spiegel, A.M., Fisher, L.W., Robey, P.G. 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(1): 120-8.
-
(2000)
J. Bone Miner. Res
, vol.15
, Issue.1
, pp. 120-128
-
-
Bianco, P.1
Riminucci, M.2
Majolagbe, A.3
Kuznetsov, S.A.4
Collins, M.T.5
Mankani, M.H.6
Corsi, A.7
Bone, H.G.8
Wientroub, S.9
Spiegel, A.M.10
Fisher, L.W.11
Robey, P.G.12
-
111
-
-
0028169341
-
An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome
-
Shenker, A., Weinstein, L.S., Sweet, D.E., Spiegel, A.M. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J. Clin. Endocrinol. Metab. 1994, 79(3): 750-5.
-
(1994)
J. Clin. Endocrinol. Metab
, vol.79
, Issue.3
, pp. 750-755
-
-
Shenker, A.1
Weinstein, L.S.2
Sweet, D.E.3
Spiegel, A.M.4
-
112
-
-
34247623164
-
A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: The first report of a codon 227 mutation in bone
-
Idowu, B.D., Al-Adnani, M., O'Donnell, P., Yu, L., Odell, E., Diss, T., Gale, R.E., Flanagan, A.M. 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(6): 691-704.
-
(2007)
Histopathology
, vol.50
, Issue.6
, pp. 691-704
-
-
Idowu, B.D.1
Al-Adnani, M.2
O'Donnell, P.3
Yu, L.4
Odell, E.5
Diss, T.6
Gale, R.E.7
Flanagan, A.M.8
-
115
-
-
0021272053
-
Mammosomatotroph hyperplasia associated with acromegaly and hyperprolactinemia in a patient with the McCune-Albright syndrome. A histologic, immunocytologic and ultrastructural study of the surgically-removed adenohypophysis
-
Kovacs, K., Horvath, E., Thomer, M.O., Rogol, A.D. Mammosomatotroph hyperplasia associated with acromegaly and hyperprolactinemia in a patient with the McCune-Albright syndrome. A histologic, immunocytologic and ultrastructural study of the surgically-removed adenohypophysis. Virchows Arch. A. Pathol. Anat. Histopathol. 1984, 403(1): 77-86.
-
(1984)
Virchows Arch. A. Pathol. Anat. Histopathol
, vol.403
, Issue.1
, pp. 77-86
-
-
Kovacs, K.1
Horvath, E.2
Thomer, M.O.3
Rogol, A.D.4
-
116
-
-
20944437547
-
The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome
-
Yamamoto, T., Imanishi, Y., Kinoshita, E., Nakagomi, Y., Shimizu, N., Miyauchi, A., Satomura, K., Koshiyama, H., Inaba, M., Nishizawa, Y., Jüppner, H., Ozono, K. The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome. J. Bone Miner. Metab. 2005, 23(3): 231-7.
-
(2005)
J. Bone Miner. Metab
, vol.23
, Issue.3
, pp. 231-237
-
-
Yamamoto, T.1
Imanishi, Y.2
Kinoshita, E.3
Nakagomi, Y.4
Shimizu, N.5
Miyauchi, A.6
Satomura, K.7
Koshiyama, H.8
Inaba, M.9
Nishizawa, Y.10
Jüppner, H.11
Ozono, K.12
-
117
-
-
33645405335
-
Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia
-
Kobayashi, K., Imanishi, Y., Koshiyama, H., Miyauchi, A., Wakasa, K., Kawata, T., Goto, H., Ohashi, H., Koyano, H.M., Mochizuki, R., Miki, T., Inaba, M., Nishizawa, Y. Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia. Life Sci. 2006, 78(20): 2295-301.
-
(2006)
Life Sci
, vol.78
, Issue.20
, pp. 2295-2301
-
-
Kobayashi, K.1
Imanishi, Y.2
Koshiyama, H.3
Miyauchi, A.4
Wakasa, K.5
Kawata, T.6
Goto, H.7
Ohashi, H.8
Koyano, H.M.9
Mochizuki, R.10
Miki, T.11
Inaba, M.12
Nishizawa, Y.13
-
118
-
-
85047691059
-
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting
-
Riminucci, M., Collins, M.T., Fedarko, N.S., Cherman, N., Corsi, A., White, K.E., Waguespack, S., Gupta, A., Hannon, T., Econs, M.J., Bianco, P., Gehron Robey, P. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J. Clin. Invest. 2003, 112(5): 683-92.
-
(2003)
J. Clin. Invest
, vol.112
, Issue.5
, pp. 683-692
-
-
Riminucci, M.1
Collins, M.T.2
Fedarko, N.S.3
Cherman, N.4
Corsi, A.5
White, K.E.6
Waguespack, S.7
Gupta, A.8
Hannon, T.9
Econs, M.J.10
Bianco, P.11
Gehron Robey, P.12
-
119
-
-
0000821313
-
Pseudohypoparathyroidism - an example of "Seabright-Bantam syndrome
-
Albright, F., Burnett, C.H., Smith, P.H., Parson, W. 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
Parson, W.4
-
120
-
-
0026344131
-
A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide
-
Jüppner, H., Abou-Samra, A.B., Freeman, M.W., Kong, X.F., Schipani, E., Richards, J., Kolakowski, L.F., Jr., Hock, J., Potts, J.T., Jr., Kronenberg, H.M., Segre, G.V. A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Science 1991, 254: 1024-6.
-
(1991)
Science
, vol.254
, pp. 1024-1026
-
-
Jüppner, H.1
Abou-Samra, A.B.2
Freeman, M.W.3
Kong, X.F.4
Schipani, E.5
Richards, J.6
Kolakowski Jr., L.F.7
Hock, J.8
Potts Jr., J.T.9
Kronenberg, H.M.10
Segre, G.V.11
-
121
-
-
0026598246
-
-
Abou-Samra, A.B., Jüppner, H., Force, T., Freeman, M.W., Kong, X.F., Schipani, E., Urena, P., Richards, J., Bonventre, J.V., Potts, J.T., Jr., Kronenberg, H.M., Segre, G.V. Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol triphosphates and increases intracellular free calcium. Proc. Natl. Acad. Sci. U.S.A. 1992, 89:2732-6.
-
Abou-Samra, A.B., Jüppner, H., Force, T., Freeman, M.W., Kong, X.F., Schipani, E., Urena, P., Richards, J., Bonventre, J.V., Potts, J.T., Jr., Kronenberg, H.M., Segre, G.V. Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol triphosphates and increases intracellular free calcium. Proc. Natl. Acad. Sci. U.S.A. 1992, 89:2732-6.
-
-
-
-
122
-
-
29644433621
-
Parathyroid hormone: Past and present
-
Potts, J.T. Parathyroid hormone: past and present. J. Endocrinol. 2005, 187(3):311-25.
-
(2005)
J. Endocrinol
, vol.187
, Issue.3
, pp. 311-325
-
-
Potts, J.T.1
-
123
-
-
13444274543
-
Parathyroid hormone and parathyroid hormone-related peptide, and their receptors
-
Gensure, R.C., Gardella, T.J., Jüppner, H. Parathyroid hormone and parathyroid hormone-related peptide, and their receptors. Biochem. Biophys. Res. Commun. 2005, 328(3): 666-78.
-
(2005)
Biochem. Biophys. Res. Commun
, vol.328
, Issue.3
, pp. 666-678
-
-
Gensure, R.C.1
Gardella, T.J.2
Jüppner, H.3
-
124
-
-
0000828339
-
Studies on the physiology of the parathyroid glands. VII. Some responses of normal human kidneys and blood to intravenous parathyroid extract
-
Ellsworth, R., Howard, J.E. Studies on the physiology of the parathyroid glands. VII. Some responses of normal human kidneys and blood to intravenous parathyroid extract. Bull Johns Hopkins Hosp. 1934, 55: 296.
-
(1934)
Bull Johns Hopkins Hosp
, vol.55
, pp. 296
-
-
Ellsworth, R.1
Howard, J.E.2
-
125
-
-
0014593627
-
Pseudohypoparathyroidism: Defective excretion of 3′,5′,-AMP in response to parathyroid hormone
-
Chase, L.R., Melson, G.L., Aurbach, G.D. 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
-
126
-
-
0007406646
-
Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy
-
Levine, M.A., Ahn, T.G., Klupt, S.F., Kaufman, K.D., Smallwood, P.M., Bourne, H.R., Sullivan, K.A., Van Dop, C. Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. Proc. Natl. Acad. Sci. U.S.A. 1988, 85(2): 617-21.
-
(1988)
Proc. Natl. Acad. Sci. U.S.A
, vol.85
, Issue.2
, pp. 617-621
-
-
Levine, M.A.1
Ahn, T.G.2
Klupt, S.F.3
Kaufman, K.D.4
Smallwood, P.M.5
Bourne, H.R.6
Sullivan, K.A.7
Van Dop, C.8
-
127
-
-
0025173391
-
Immunochemical analysis of the α-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy
-
Patten, J.L., Levine, M.A. Immunochemical analysis of the α-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. J. Clin. Endocrinol. Metab. 1990, 71: 1208-14.
-
(1990)
J. Clin. Endocrinol. Metab
, vol.71
, pp. 1208-1214
-
-
Patten, J.L.1
Levine, M.A.2
-
128
-
-
0023425955
-
Reduced expression of multiple forms of the α subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia
-
Carter, A., Bardin, C., Collins, R., Simons, C., Bray, P., Spiegel, A. Reduced expression of multiple forms of the α subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia. Proc. Natl. Acad. Sci. U.S.A. 1987, 84: 7266-9.
-
(1987)
Proc. Natl. Acad. Sci. U.S.A
, vol.84
, pp. 7266-7269
-
-
Carter, A.1
Bardin, C.2
Collins, R.3
Simons, C.4
Bray, P.5
Spiegel, A.6
-
129
-
-
0025195106
-
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis
-
Weinstein, L.S., Gejman, P.V., Friedman, E., Kadowaki, T., Collins, R.M., Gershon, E.S., Spiegel, A.M. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc. Natl. Acad. Sci. U.S.A.
-
(1990)
Proc. Natl. Acad. Sci. U.S.A
, vol.87
, Issue.21
, pp. 8287-8290
-
-
Weinstein, L.S.1
Gejman, P.V.2
Friedman, E.3
Kadowaki, T.4
Collins, R.M.5
Gershon, E.S.6
Spiegel, A.M.7
-
130
-
-
0025323257
-
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
-
Patten, J.L., Johns, D.R., Valle, D., Eil, C., Gruppuso, P.A., Steele, G., Smallwood, P.M., Levine, M.A. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. New Engl. J. Med. 1990, 322: 1412-9.
-
(1990)
New Engl. J. Med
, vol.322
, pp. 1412-1419
-
-
Patten, J.L.1
Johns, D.R.2
Valle, D.3
Eil, C.4
Gruppuso, P.A.5
Steele, G.6
Smallwood, P.M.7
Levine, M.A.8
-
131
-
-
0020627955
-
Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein
-
Levine, M.A., Downs, R.W., Jr., Moses, A.M., Breslau, N.A., Marx, S.J., Lasker, R.D., Rizzoli, R.E., Aurbach, G.D., Spiegel, A.M. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am. J. Med. 1983, 74: 545-56.
-
(1983)
Am. J. Med
, vol.74
, pp. 545-556
-
-
Levine, M.A.1
Downs Jr., R.W.2
Moses, A.M.3
Breslau, N.A.4
Marx, S.J.5
Lasker, R.D.6
Rizzoli, R.E.7
Aurbach, G.D.8
Spiegel, A.M.9
-
132
-
-
0020418743
-
Coupling defect of thyrotropin receptor and adenylate cyclase in a pseudohypoparathyroid patient
-
Mallet, E., Carayon, P., Amr, S., Brunelle, P., Ducastelle, T., Basuyau, J.P., de Menibus, C.H. Coupling defect of thyrotropin receptor and adenylate cyclase in a pseudohypoparathyroid patient. J. Clin. Endocrinol. Metab. 1982, 54(5): 1028-32.
-
(1982)
J. Clin. Endocrinol. Metab
, vol.54
, Issue.5
, pp. 1028-1032
-
-
Mallet, E.1
Carayon, P.2
Amr, S.3
Brunelle, P.4
Ducastelle, T.5
Basuyau, J.P.6
de Menibus, C.H.7
-
133
-
-
0017809406
-
Partial gonadotrophin-resistance in pseudohypoparathyroidism
-
Wolfsdorf, J.I., Rosenfield, R.L., Fang, V.S., Kobayashi, R., Razdan, A.K., Kim, M.H. Partial gonadotrophin-resistance in pseudohypoparathyroidism. Acta Endocrinol. (Copenh) 1978, 88(2): 321-8.
-
(1978)
Acta Endocrinol. (Copenh)
, vol.88
, Issue.2
, pp. 321-328
-
-
Wolfsdorf, J.I.1
Rosenfield, R.L.2
Fang, V.S.3
Kobayashi, R.4
Razdan, A.K.5
Kim, M.H.6
-
134
-
-
0141857716
-
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: New evidence for imprinting of the Gs alpha gene
-
Mantovani, G., Maghnie, M., Weber, G., De Menis, E., Brunelli, V., Cappa, M., Loh, P., Beck-Peccoz, P., Spada, A. Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene. J. Clin. Endocrinol. Metab. 2003, 88(9): 4070-4.
-
(2003)
J. Clin. Endocrinol. Metab
, vol.88
, Issue.9
, pp. 4070-4074
-
-
Mantovani, G.1
Maghnie, M.2
Weber, G.3
De Menis, E.4
Brunelli, V.5
Cappa, M.6
Loh, P.7
Beck-Peccoz, P.8
Spada, A.9
-
135
-
-
0141606268
-
Growth hormone deficiency in pseudohypoparathyroidism type 1a: Another manifestation of multihormone resistance
-
Germain-Lee, E.L., Groman, J., Crane, J.L., Jan de Beur, S.M., Levine, M.A. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J. Clin. Endocrinol. Metab. 2003, 88(9): 4059-69.
-
(2003)
J. Clin. Endocrinol. Metab
, vol.88
, Issue.9
, pp. 4059-4069
-
-
Germain-Lee, E.L.1
Groman, J.2
Crane, J.L.3
Jan de Beur, S.M.4
Levine, M.A.5
-
136
-
-
0026079186
-
Pseudo-hypoparathyroidism: Its phenotypic variability and associated disorders in a large family
-
Faull, C.M., Welbury, R.R., Paul, B., Kendall-Taylor, P. Pseudo-hypoparathyroidism: its phenotypic variability and associated disorders in a large family. Q. J. Med. 1991, 78(287): 251-64.
-
(1991)
Q. J. Med
, vol.78
, Issue.287
, pp. 251-264
-
-
Faull, C.M.1
Welbury, R.R.2
Paul, B.3
Kendall-Taylor, P.4
-
137
-
-
0022631589
-
Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient pseudohypoparathyroidism
-
Moses, A.M., Weinstock, R.S., Levine, M.A., Breslau, N.A. 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
Breslau, N.A.4
-
138
-
-
0024418886
-
Deficient erythrocyte membrane Gs alpha activity and resistance to trophic hormones of multiple endocrine organs in two cases of pseudohypoparathyroidism
-
Tsai, K.S., Chang, C.C., Wu, D.J., Huang, T.S., Tsai, I.H., Chen, F.W. Deficient erythrocyte membrane Gs alpha activity and resistance to trophic hormones of multiple endocrine organs in two cases of pseudohypoparathyroidism. Taiwan Yi Xue Hui Za Zhi 1989, 88(5): 450-5.
-
(1989)
Taiwan Yi Xue Hui Za Zhi
, vol.88
, Issue.5
, pp. 450-455
-
-
Tsai, K.S.1
Chang, C.C.2
Wu, D.J.3
Huang, T.S.4
Tsai, I.H.5
Chen, F.W.6
-
139
-
-
0000914962
-
Pseudo-pseudohypoparathyroidism
-
Albright, F., Forbes, A.P., Henneman, P.H. Pseudo-pseudohypoparathyroidism. Trans. Assoc. Am. Physicians 1952, 65: 337-50.
-
(1952)
Trans. Assoc. Am. Physicians
, vol.65
, pp. 337-350
-
-
Albright, F.1
Forbes, A.P.2
Henneman, P.H.3
-
140
-
-
0022655674
-
Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudohypoparathyroidism: Biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds
-
Levine, M.A., Jap, T.S., Mauseth, R.S., R.S. Downs, J., Spiegel, A.M. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudohypoparathyroidism: Biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J. Clin. Endocrinol. Metab 1986, 62: 497-502.
-
(1986)
J. Clin. Endocrinol. Metab
, vol.62
, pp. 497-502
-
-
Levine, M.A.1
Jap, T.S.2
Mauseth, R.S.R.S.3
Downs, J.4
Spiegel, A.M.5
-
141
-
-
0027399429
-
Imprinting in Albright's hereditary osteodystrophy
-
Davies, A.J., Hughes, H.E. 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
-
142
-
-
0028143011
-
Parental origin of Gsa gene mutations in Albright's hereditary osteodystrophy
-
Wilson, L.C., Oude-Luttikhuis, M.E.M., Clayton, P.T., Fraser, W.D., Trembath, R.C. Parental origin of Gsa 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
Fraser, W.D.4
Trembath, R.C.5
-
143
-
-
6944221426
-
Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo
-
Bastepe, M., Weinstein, L.S., Ogata, N., Kawaguchi, H., Jüppner, H., Kronenberg, H.M., Chung, U.I. Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc. Natl. Acad. Sci. U.S.A. 2004, 101(41): 14794-9.
-
(2004)
Proc. Natl. Acad. Sci. U.S.A
, vol.101
, Issue.41
, pp. 14794-14799
-
-
Bastepe, M.1
Weinstein, L.S.2
Ogata, N.3
Kawaguchi, H.4
Jüppner, H.5
Kronenberg, H.M.6
Chung, U.I.7
-
144
-
-
33947520961
-
Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity
-
Long, D.N., McGuire, S., Levine, M.A., Weinstein, L.S., Germain-Lee, E.L. 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): 1073-9.
-
(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
-
145
-
-
0034331685
-
Progressive osseous heteroplasia
-
Kaplan, F.S., Shore, E.M. Progressive osseous heteroplasia. J. Bone Miner. Res. 2000, 15(11): 2084-94.
-
(2000)
J. Bone Miner. Res
, vol.15
, Issue.11
, pp. 2084-2094
-
-
Kaplan, F.S.1
Shore, E.M.2
-
146
-
-
0033793009
-
Deficiency of the alpha-subunit of the stimulatory G protein and severe ex traskeletal ossification
-
Eddy, M.C., De Beur, S.M., Yandow, S.M., McAlister, W.H., Shore, E.M., Kaplan, F.S., Whyte, M.P., Levine, M.A. Deficiency of the alpha-subunit of the stimulatory G protein and severe ex traskeletal ossification. J Bone Miner. Res. 2000, 15(11): 2074-83.
-
(2000)
J Bone Miner. Res
, vol.15
, Issue.11
, pp. 2074-2083
-
-
Eddy, M.C.1
De Beur, S.M.2
Yandow, S.M.3
McAlister, W.H.4
Shore, E.M.5
Kaplan, F.S.6
Whyte, M.P.7
Levine, M.A.8
-
147
-
-
0037050365
-
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
-
Shore, E.M., Alm, J., Jan de Beur, S., Li, M., Xu, M., Gardner R.J., Zasloff, M.A., Whyte, M.P., Levine, M.A., Kaplan, F.S. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N. Engl. J. Med. 2002, 346(2): 99-106.
-
(2002)
N. Engl. J. Med
, vol.346
, Issue.2
, pp. 99-106
-
-
Shore, E.M.1
Alm, J.2
Jan de Beur, S.3
Li, M.4
Xu, M.5
Gardner, R.J.6
Zasloff, M.A.7
Whyte, M.P.8
Levine, M.A.9
Kaplan, F.S.10
-
148
-
-
0037162114
-
GNAS1 mutations and progressive osseous heteroplasia
-
Ahmed, S.F., Barr, D.G., Bonthron, D.T. GNAS1 mutations and progressive osseous heteroplasia. N. Engl. J. Med. 2002, 346(21): 1669-71.
-
(2002)
N. Engl. J. Med
, vol.346
, Issue.21
, pp. 1669-1671
-
-
Ahmed, S.F.1
Barr, D.G.2
Bonthron, D.T.3
-
149
-
-
0042822034
-
Progressive osseous heteroplasia in the face of a child
-
Faust, R.A., Shore, E.M., Stevens, C.E., Xu, M., Shah, S., Phillips, C.D., Kaplan, F.S. Progressive osseous heteroplasia in the face of a child. Am. J. Med. Genet. A. 2003, 118(1): 71-5.
-
(2003)
Am. J. Med. Genet. A
, vol.118
, Issue.1
, pp. 71-75
-
-
Faust, R.A.1
Shore, E.M.2
Stevens, C.E.3
Xu, M.4
Shah, S.5
Phillips, C.D.6
Kaplan, F.S.7
-
150
-
-
0842287385
-
Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene
-
Chan, I., Hamada, T., Hardman, C., McGrath, J.A., Child, F.J. Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. Clin. Exp. Dermatol. 2004, 29(1): 77-80.
-
(2004)
Clin. Exp. Dermatol
, vol.29
, Issue.1
, pp. 77-80
-
-
Chan, I.1
Hamada, T.2
Hardman, C.3
McGrath, J.A.4
Child, F.J.5
-
151
-
-
0141857714
-
The stimulatory G protein α-subunit Gsa is imprinted in human thyroid glands: Implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
-
Liu, J., Erlichman, B., Weinstein, L.S. The stimulatory G protein α-subunit Gsa is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J. Clin. Endocrinol. Metabol. 2003, 88(9): 4336-41.
-
(2003)
J. Clin. Endocrinol. Metabol
, vol.88
, Issue.9
, pp. 4336-4341
-
-
Liu, J.1
Erlichman, B.2
Weinstein, L.S.3
-
152
-
-
34347217115
-
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy
-
de Nanclares, G.P., Fernandez-Rebollo, E., Santin, I., Garcia-Cuartero, B., Gaztambide, S., Menendez, E., Morales, M.J., Pombo, M., Bilbao, J.R., Barros, F., Zazo, N., Ahrens, W., Jüppner, H., Hiort, O., Castano, L., Bastepe, M. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J. Clin. Endocrinol. Metab. 2007, 92(6): 2370-3.
-
(2007)
J. Clin. Endocrinol. Metab
, vol.92
, Issue.6
, pp. 2370-2373
-
-
de Nanclares, G.P.1
Fernandez-Rebollo, E.2
Santin, I.3
Garcia-Cuartero, B.4
Gaztambide, S.5
Menendez, E.6
Morales, M.J.7
Pombo, M.8
Bilbao, J.R.9
Barros, F.10
Zazo, N.11
Ahrens, W.12
Jüppner, H.13
Hiort, O.14
Castano, L.15
Bastepe, M.16
-
153
-
-
0022656444
-
Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib
-
Silve, C., Santora, A., Breslau, N., Moses, A., Spiegel, A. Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib. J. Clin. Endocrinol. Metab. 1986, 62: 640-4.
-
(1986)
J. Clin. Endocrinol. Metab
, vol.62
, pp. 640-644
-
-
Silve, C.1
Santora, A.2
Breslau, N.3
Moses, A.4
Spiegel, A.5
-
154
-
-
0035808314
-
Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of Gas: A cause of pseudohypoparathyroidism type 1b
-
Wu, W.I., Schwindinger, W.F., Aparicio, L.F., Levine, M.A. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of Gas: A cause of pseudohypoparathyroidism type 1b. J. Biol. Chem. 2001, 276(1): 165-71.
-
(2001)
J. Biol. Chem
, vol.276
, Issue.1
, pp. 165-171
-
-
Wu, W.I.1
Schwindinger, W.F.2
Aparicio, L.F.3
Levine, M.A.4
-
155
-
-
0029041620
-
Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene
-
Schipani, E., Weinstein, L.S., Bergwitz, C., Iida-Klein, A., Kong, X.F., Stuhrmann, M., Kruse, K., Whyte, M.P., Murray, T., Schmidtke, J., van Dop, C., Brickman, A.S., Crawford, J.D., Potts, J.T., Jr., Kronenberg, H.M., Abou-Samra, A.B., Segre, G.V., Juppner, H. Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J. Clin. Endocrinol. Metab. 1995, 80: 1611-21.
-
(1995)
J. Clin. Endocrinol. Metab
, vol.80
, pp. 1611-1621
-
-
Schipani, E.1
Weinstein, L.S.2
Bergwitz, C.3
Iida-Klein, A.4
Kong, X.F.5
Stuhrmann, M.6
Kruse, K.7
Whyte, M.P.8
Murray, T.9
Schmidtke, J.10
van Dop, C.11
Brickman, A.S.12
Crawford, J.D.13
Potts Jr., J.T.14
Kronenberg, H.M.15
Abou-Samra, A.B.16
Segre, G.V.17
Juppner, H.18
-
156
-
-
0029906319
-
Absence of mutations in parathyroid hormone (PTH)/ PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib
-
Fukumoto, S., Suzawa, M., Takeuchi, Y., Nakayama, K., Kodama, Y., Ogata, E., Matsumoto, T. Absence of mutations in parathyroid hormone (PTH)/ PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. J. Clin. Endocrinol. Metab. 1996, 81: 2554-8.
-
(1996)
J. Clin. Endocrinol. Metab
, vol.81
, pp. 2554-2558
-
-
Fukumoto, S.1
Suzawa, M.2
Takeuchi, Y.3
Nakayama, K.4
Kodama, Y.5
Ogata, E.6
Matsumoto, T.7
-
157
-
-
0034457114
-
Pseudohypoparathyroidism 1b: Exclusion of parathyroid hormone and its receptors as candidate disease genes
-
Jan de Beur, S., Ding, C., LaBuda, M., Usdin, T., Levine, M. Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes. J. Clin. Endocrinol. Metab. 2000, 85: 2239-46.
-
(2000)
J. Clin. Endocrinol. Metab
, vol.85
, pp. 2239-2246
-
-
Jan de Beur, S.1
Ding, C.2
LaBuda, M.3
Usdin, T.4
Levine, M.5
-
158
-
-
13144250154
-
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
-
Jüppner, H., Schipani, E., Bastepe, M., Cole, D.E.C., Lawson, M.L., Mannstadt, M., Hendy, G.N., Plotkin, H., Koshiyama, H., Koh, T., Crawford, J.D., Olsen, B.R., Vikkula, M. 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
Cole, D.E.C.4
Lawson, M.L.5
Mannstadt, M.6
Hendy, G.N.7
Plotkin, H.8
Koshiyama, H.9
Koh, T.10
Crawford, J.D.11
Olsen, B.R.12
Vikkula, M.13
-
159
-
-
0037369105
-
The pseudohypoparathyroidism type 1b locus is linked to a region including GNAS1 at 20q13.3
-
Jan De Beur, S.M., O'Connell, J.R., Peila, R., Cho, J., Deng, Z., Kam, S., Levine, M.A. The pseudohypoparathyroidism type 1b locus is linked to a region including GNAS1 at 20q13.3. J. Bone Miner. Res. 2003, 18(3): 424-33.
-
(2003)
J. Bone Miner. Res
, vol.18
, Issue.3
, pp. 424-433
-
-
Jan De Beur, S.M.1
O'Connell, J.R.2
Peila, R.3
Cho, J.4
Deng, Z.5
Kam, S.6
Levine, M.A.7
-
160
-
-
9144266313
-
Amosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
-
Bastepe, M., Fröhlich, L.F., Hendy, G.N., Indridason, O.S., Josse, R.G., Koshiyama, H., Korkko, J., Nakamoto, J.M., Rosenbloom, A.L., Slyper, A.H., Sugimoto, T., Tsatsoulis, A., Crawford, J.D., Jüppner, H. Amosomal 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): 1255-63.
-
(2003)
J. Clin. Invest
, vol.112
, Issue.8
, pp. 1255-1263
-
-
Bastepe, M.1
Fröhlich, L.F.2
Hendy, G.N.3
Indridason, O.S.4
Josse, R.G.5
Koshiyama, H.6
Korkko, J.7
Nakamoto, J.M.8
Rosenbloom, A.L.9
Slyper, A.H.10
Sugimoto, T.11
Tsatsoulis, A.12
Crawford, J.D.13
Jüppner, H.14
-
161
-
-
17644367429
-
Molecular diagnosis of pseudohypoparathyroidism type 1b in a family with presumed paroxysmal dyskinesia
-
Mahmud, F.H., Linglart, A., Bastepe, M., Jüppner, H., Lteif, A.N. Molecular diagnosis of pseudohypoparathyroidism type 1b in a family with presumed paroxysmal dyskinesia. Pediatrics 2005, 115(2): e242-4.
-
(2005)
Pediatrics
, vol.115
, Issue.2
-
-
Mahmud, F.H.1
Linglart, A.2
Bastepe, M.3
Jüppner, H.4
Lteif, A.N.5
-
162
-
-
12344293383
-
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
-
Liu, J., Nealon, J.G., Weinstein, L.S. 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
-
163
-
-
10344263392
-
Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type ib in a Greek kindred: Evidence for enhanced uric acid excretion due to parathyroid hormone resistance
-
Laspa, E., Bastepe, M., Jüppner, H., Tsatsoulis, A. Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance. J. Clin. Endocrinol. Metab. 2004, 89(12): 5942-7.
-
(2004)
J. Clin. Endocrinol. Metab
, vol.89
, Issue.12
, pp. 5942-5947
-
-
Laspa, E.1
Bastepe, M.2
Jüppner, H.3
Tsatsoulis, A.4
-
164
-
-
17644372378
-
A Novel STX16 Deletion in Amosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS
-
Linglart, A., Gensure, R.C., Olney, R.C., Jüppner, H., Bastepe, M. A Novel STX16 Deletion in Amosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS. Am. J. Hum. Genet. 2005, 76(5): 804-14.
-
(2005)
Am. J. Hum. Genet
, vol.76
, Issue.5
, pp. 804-814
-
-
Linglart, A.1
Gensure, R.C.2
Olney, R.C.3
Jüppner, H.4
Bastepe, M.5
-
165
-
-
11244353640
-
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type-1b
-
Bastepe, M., Fröhlich, L.F., Linglart, A., Abu-zahra, H.S., Tojo, K., Ward, L.M., Jüppner, H. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type-1b. Nat. Genet. 2005, 37(1): 25-37.
-
(2005)
Nat. Genet
, vol.37
, Issue.1
, pp. 25-37
-
-
Bastepe, M.1
Fröhlich, L.F.2
Linglart, A.3
Abu-zahra, H.S.4
Tojo, K.5
Ward, L.M.6
Jüppner, H.7
-
166
-
-
0042165833
-
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, M.A. 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): 314-22.
-
(2003)
Am. J. Hum. Genet
, vol.73
, Issue.2
, pp. 314-322
-
-
Jan de Beur, S.1
Ding, C.2
Germain-Lee, E.3
Cho, J.4
Maret, A.5
Levine, M.A.6
-
167
-
-
34250849292
-
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16
-
Fröhlich, L.F., Bastepe, M., Ozturk, D., Abu-Zahra, H., Jüppner, H. Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. Endocrinology 2007, 148(6): 2925-35.
-
(2007)
Endocrinology
, vol.148
, Issue.6
, pp. 2925-2935
-
-
Fröhlich, L.F.1
Bastepe, M.2
Ozturk, D.3
Abu-Zahra, H.4
Jüppner, H.5
|