-
1
-
-
0000821313
-
Pseudohypoparathyroidism: An example of "Seabright-Bantam-Syndrome": report of three cases
-
Albright F, Burnett CH, Smith PH, Parson W. Pseudohypoparathyroidism: an example of "Seabright-Bantam-Syndrome": report of three cases. Endocrinology 30: 922-932, 1942.
-
(1942)
Endocrinology
, vol.30
, pp. 922-932
-
-
Albright, F.1
Burnett, C.H.2
Smith, P.H.3
Parson, W.4
-
2
-
-
0037159459
-
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy
-
Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L. Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. Am J Med Genet 113: 167-172, 2002.
-
(2002)
Am J Med Genet
, vol.113
, pp. 167-172
-
-
Aldred, M.A.1
Aftimos, S.2
Hall, C.3
Waters, K.S.4
Thakker, R.V.5
Trembath, R.C.6
Brueton, L.7
-
3
-
-
11244353640
-
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
-
Bastepe M, Fröhlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Jüppner H. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 37: 25-27, 2005.
-
(2005)
Nat Genet
, vol.37
, pp. 25-27
-
-
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
-
4
-
-
0036020511
-
Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit
-
Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Jüppner H. Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit. Mol Endocrinol 16: 1912-1919, 2002.
-
(2002)
Mol Endocrinol
, vol.16
, pp. 1912-1919
-
-
Bastepe, M.1
Gunes, Y.2
Perez-Villamil, B.3
Hunzelman, J.4
Weinstein, L.S.5
Jüppner, H.6
-
5
-
-
17844406661
-
GNAS locus and pseudohypoparathyroidism
-
Bastepe M, Jüppner H. GNAS locus and pseudohypoparathyroidism. Horm Res 63: 65-74, 2005.
-
(2005)
Horm Res
, vol.63
, pp. 65-74
-
-
Bastepe, M.1
Jüppner, H.2
-
6
-
-
36049033997
-
Skeletal abnormalities and extra-skeletal ossification in mice with restricted Gsalpha deletion caused by a renin promoter-Cre transgene
-
Castrop H, Oppermann M, Mizel D, Huang Y, Faulhaber-Walter R, Weiss Y, Weinstein LS, Chen M, Germain S, Lu H, Ragland D, Schimel DM, Schnermann J. Skeletal abnormalities and extra-skeletal ossification in mice with restricted Gsalpha deletion caused by a renin promoter-Cre transgene. Cell Tissue Res 330: 487-501, 2007.
-
(2007)
Cell Tissue Res
, vol.330
, pp. 487-501
-
-
Castrop, H.1
Oppermann, M.2
Mizel, D.3
Huang, Y.4
Faulhaber-Walter, R.5
Weiss, Y.6
Weinstein, L.S.7
Chen, M.8
Germain, S.9
Lu, H.10
Ragland, D.11
Schimel, D.M.12
Schnermann, J.13
-
7
-
-
0022391691
-
Differential activity of maternally and paternally derived chromosome regions in mice
-
Cattanach BM, Kirk M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315: 496-498, 1985.
-
(1985)
Nature
, vol.315
, pp. 496-498
-
-
Cattanach, B.M.1
Kirk, M.2
-
8
-
-
0034703175
-
Two imprinted gene mutations: Three phenotypes
-
Cattanach BM, Peters J, Ball S, Rasberry C. Two imprinted gene mutations: three phenotypes. Hum Mol Genet 9: 2263-2273, 2000.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2263-2273
-
-
Cattanach, B.M.1
Peters, J.2
Ball, S.3
Rasberry, C.4
-
9
-
-
33847693583
-
Genomic imprinting, growth control and the allocation of nutritional resources: Consequences for postnatal life
-
Charalambous M, da Rocha ST, Ferguson-Smith AC. Genomic imprinting, growth control and the allocation of nutritional resources: consequences for postnatal life. Curr Opin Endocrinol Diabetes Obesity 14: 3-12, 2007.
-
(2007)
Curr Opin Endocrinol Diabetes Obesity
, vol.14
, pp. 3-12
-
-
Charalambous, M.1
da Rocha, S.T.2
Ferguson-Smith, A.C.3
-
10
-
-
33846210082
-
Regulation of renin in mice with Cre recombinase-mediated deletion of G protein Gsalpha in juxtaglomerular cells
-
Chen L, Kim SM, Oppermann M, Faulhaber-Walter R, Huang Y, Mizel D, Chen M, Lopez ML, Weinstein LS, Gomez RA, Briggs JP, Schnermann J. Regulation of renin in mice with Cre recombinase-mediated deletion of G protein Gsalpha in juxtaglomerular cells. Am J Physiol Renal Physiol 292: F27-F37, 2007.
-
(2007)
Am J Physiol Renal Physiol
, vol.292
-
-
Chen, L.1
Kim, S.M.2
Oppermann, M.3
Faulhaber-Walter, R.4
Huang, Y.5
Mizel, D.6
Chen, M.7
Lopez, M.L.8
Weinstein, L.S.9
Gomez, R.A.10
Briggs, J.P.11
Schnermann, J.12
-
11
-
-
21044439497
-
Alternative Gnas gene products have opposite effects on glucose and lipid metabolism
-
Chen M, Gavrilova O, Liu J, Xie T, Deng C, Nguyen AT, Nackers LM, Lorenzo J, Shen L, Weinstein LS. Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. Proc Natl Acad Sci USA 102: 7386-7391, 2005.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, 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
-
12
-
-
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 WQ, Nguyen A, Lorenzo J, Shen L, Nackers L, Pack S, Jou W, Weinstein LS. Increased glucose tolerance and reduced adiposity in the absence of fasting hypoglycemia in mice with liver-specific Gs alpha deficiency. J Clin Invest 115: 3217-3227, 2005.
-
(2005)
J Clin Invest
, vol.115
, 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
-
13
-
-
0032787806
-
Maternal UPD 20 in a hyperactive child with severe growth retardation
-
Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann I, Claussen U. Maternal UPD 20 in a hyperactive child with severe growth retardation. Eur J Hum Genet 7: 533-540, 1999.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 533-540
-
-
Chudoba, I.1
Franke, Y.2
Senger, G.3
Sauerbrei, G.4
Demuth, S.5
Beensen, V.6
Neumann, A.7
Hansmann, I.8
Claussen, U.9
-
15
-
-
0041631077
-
Epigenetic properties and identification of an imprint mark in the nesp-gnasxl domain of the mouse gnas imprinted locus
-
Coombes C, Arnaud P, Gordon E, Dean W, Coar EA, Williamson CM, Feil R, Peters J, Kelsey G. Epigenetic properties and identification of an imprint mark in the nesp-gnasxl domain of the mouse gnas imprinted locus. Mol Cell Biol 23: 5475-5488, 2003.
-
(2003)
Mol Cell Biol
, vol.23
, 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
-
16
-
-
0027193432
-
Neural expression of a novel alternatively spliced and polyadenylated Gs alpha transcript
-
Crawford JA, Mutchler KJ, Sullivan BE, Lanigan TM, Clark MS, Russo AF. Neural expression of a novel alternatively spliced and polyadenylated Gs alpha transcript. J Biol Chem 268: 9879-9885, 1993.
-
(1993)
J Biol Chem
, vol.268
, 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
-
17
-
-
0027399429
-
Imprinting in Albright's hereditary osteodystrophy
-
Davies SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30: 101-103, 1993.
-
(1993)
J Med Genet
, vol.30
, pp. 101-103
-
-
Davies, S.J.1
Hughes, H.E.2
-
19
-
-
0035105118
-
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
-
Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, Ranke MB, Wollmann HA. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. J Med Genet 38: 86-89, 2001.
-
(2001)
J Med Genet
, vol.38
, pp. 86-89
-
-
Eggermann, T.1
Mergenthaler, S.2
Eggermann, K.3
Albers, A.4
Linnemann, K.5
Fusch, C.6
Ranke, M.B.7
Wollmann, H.A.8
-
20
-
-
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 NY Acad Sci 971: 317-322, 2002.
-
(2002)
Ann NY Acad Sci
, vol.971
, pp. 317-322
-
-
Fischer-Colbrie, R.1
Eder, S.2
Lovisetti-Scamihorn, P.3
Becker, A.4
Laslop, A.5
-
21
-
-
42449114088
-
Imprinted genes, postnatal adaptations and enduring effects on energy homeostasis
-
edited by Wilkins JF. Austin: Landes Bioscience
-
Frontera M, Dickins B, Plagge A, Kelsey G. Imprinted genes, postnatal adaptations and enduring effects on energy homeostasis. In: Genomic Imprinting, edited by Wilkins JF. Austin: Landes Bioscience, 2008, p. 41-61.
-
(2008)
Genomic Imprinting
, pp. 41-61
-
-
Frontera, M.1
Dickins, B.2
Plagge, A.3
Kelsey, G.4
-
22
-
-
27244433456
-
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties
-
Genevieve D, Sanlaville D, Faivre L, Kottler ML, 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 Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet 13: 1033-1039, 2005.
-
(2005)
Eur J Hum Genet
, vol.13
, 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
-
23
-
-
0035982094
-
Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
-
Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, Levine MA. Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 296: 67-72, 2002.
-
(2002)
Biochem Biophys Res Commun
, vol.296
, 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
-
24
-
-
0141606268
-
Growth hormone deficiency in pseudohypoparathyroidism type 1a: Another manifestation of multihormone resistance
-
Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 88: 4059-4069, 2003.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4059-4069
-
-
Germain-Lee, E.L.1
Groman, J.2
Crane, J.L.3
Jan de Beur, S.M.4
Levine, M.A.5
-
25
-
-
26844542000
-
A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene
-
Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel LS, Wand G, Huso DL, Saji M, Ringel MD, Levine MA. A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology 146: 4697-4709, 2005.
-
(2005)
Endocrinology
, vol.146
, pp. 4697-4709
-
-
Germain-Lee, E.L.1
Schwindinger, W.2
Crane, J.L.3
Zewdu, R.4
Zweifel, L.S.5
Wand, G.6
Huso, D.L.7
Saji, M.8
Ringel, M.D.9
Levine, M.A.10
-
26
-
-
8544235964
-
Genomic imprinting and kinship: How good is the evidence?
-
Haig D. Genomic imprinting and kinship: how good is the evidence? Annu Rev Genet 38: 553-585, 2004.
-
(2004)
Annu Rev Genet
, vol.38
, pp. 553-585
-
-
Haig, D.1
-
27
-
-
0035106246
-
Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly
-
Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, Bonthron DT. Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 107: R31-R36, 2001.
-
(2001)
J Clin Invest
, vol.107
-
-
Hayward, B.E.1
Barlier, A.2
Korbonits, M.3
Grossman, A.B.4
Jacquet, P.5
Enjalbert, A.6
Bonthron, D.T.7
-
28
-
-
0034701294
-
An imprinted antisense transcript at the human GNAS1 locus
-
Hayward BE, Bonthron DT. An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 9: 835-841, 2000.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 835-841
-
-
Hayward, B.E.1
Bonthron, D.T.2
-
29
-
-
0032544019
-
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
-
Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 95: 10038-10043.
-
Proc Natl Acad Sci USA
, vol.95
, pp. 10038-10043
-
-
Hayward, B.E.1
Kamiya, M.2
Strain, L.3
Moran, V.4
Campbell, R.5
Hayashizaki, Y.6
Bonthron, D.T.7
-
30
-
-
0032433682
-
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
-
Hayward BE, Moran V, Strain L, Bonthron DT. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 95: 15475-15480, 1998.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 15475-15480
-
-
Hayward, B.E.1
Moran, V.2
Strain, L.3
Bonthron, D.T.4
-
31
-
-
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 272: 11657-11662, 1997.
-
(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
-
33
-
-
0033379049
-
Identification of imprinted loci by methylation-sensitive representational difference analysis: Application to mouse distal chromosome 2
-
Kelsey G, Bodle D, Miller HJ, Beechey CV, Coombes C, Peters J, Williamson CM. Identification of imprinted loci by methylation-sensitive representational difference analysis: application to mouse distal chromosome 2. Genomics 62: 129-138, 1999.
-
(1999)
Genomics
, vol.62
, pp. 129-138
-
-
Kelsey, G.1
Bodle, D.2
Miller, H.J.3
Beechey, C.V.4
Coombes, C.5
Peters, J.6
Williamson, C.M.7
-
34
-
-
0034721886
-
Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties
-
Klemke M, Pasolli HA, Kehlenbach RH, Offermanns S, Schultz G, Huttner WB. Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties. J Biol Chem 275: 33633-33640, 2000.
-
(2000)
J Biol Chem
, vol.275
, pp. 33633-33640
-
-
Klemke, M.1
Pasolli, H.A.2
Kehlenbach, R.H.3
Offermanns, S.4
Schultz, G.5
Huttner, W.B.6
-
35
-
-
0034332583
-
Clinical spectrum and pathogenesis of pseudohypoparathyroidism
-
Levine MA. Clinical spectrum and pathogenesis of pseudohypoparathyroidism. Rev Endocr Metab Disorders 1: 265-274, 2000.
-
(2000)
Rev Endocr Metab Disorders
, vol.1
, pp. 265-274
-
-
Levine, M.A.1
-
36
-
-
0020627955
-
Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein
-
Levine MA, Downs RW Jr, Moses AM, Breslau NA, Marx SJ, Lasker RD, Rizzoli RE, Aurbach GD, Spiegel AM. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 74: 545-556, 1983.
-
(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
-
37
-
-
0019309715
-
Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism
-
Levine MA, Downs RW Jr, Singer M, Marx SJ, Aurbach GD, Spiegel AM. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun 94: 1319-1324, 1980.
-
(1980)
Biochem Biophys Res Commun
, vol.94
, pp. 1319-1324
-
-
Levine, M.A.1
Downs Jr, R.W.2
Singer, M.3
Marx, S.J.4
Aurbach, G.D.5
Spiegel, A.M.6
-
38
-
-
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 XLalphas
-
Linglart A, Mahon MJ, Kerachian MA, Berlach DM, Hendy GN, 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 XLalphas. Endocrinology 147: 2253-2262, 2006.
-
(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
Jüppner, H.6
Bastepe, M.7
-
39
-
-
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 JG, Erlichman B, Bestor TH, Weinstein LS. Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit. Proc Natl Acad Sci USA 102: 5513-5518, 2005.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, 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
-
40
-
-
0141857714
-
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 88: 4336-4341, 2003.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4336-4341
-
-
Liu, J.1
Erlichman, B.2
Weinstein, L.S.3
-
41
-
-
0033865243
-
Identification of a methylation imprint mark within the mouse Gnas locus
-
Liu J, Yu S, Litman D, Chen W, Weinstein LS. Identification of a methylation imprint mark within the mouse Gnas locus. Mol Cell Biol 20: 5808-5817, 2000.
-
(2000)
Mol Cell Biol
, vol.20
, pp. 5808-5817
-
-
Liu, J.1
Yu, S.2
Litman, D.3
Chen, W.4
Weinstein, L.S.5
-
42
-
-
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 DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab 92: 1073-1079, 2007.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 1073-1079
-
-
Long, D.N.1
McGuire, S.2
Levine, M.A.3
Weinstein, L.S.4
Germain-Lee, E.L.5
-
43
-
-
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 829: 99-106, 1999.
-
(1999)
Brain Res
, vol.829
, pp. 99-106
-
-
Lovisetti-Scamihorn, P.1
Fischer-Colbrie, R.2
Leitner, B.3
Scherzer, G.4
Winkler, H.5
-
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 87: 4736-4740, 2002.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4736-4740
-
-
Mantovani, G.1
Ballare, E.2
Giammona, E.3
Beck-Peccoz, P.4
Spada, A.5
-
45
-
-
10344231982
-
Biallelic expression of the Gsalpha gene in human bone and adipose tissue
-
Mantovani G, Bondioni S, Locatelli M, Pedroni C, Lania AG, 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 89: 6316-6319, 2004.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, 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
-
-
0031732659
-
Reproductive dysfunction in women with Albright's hereditary osteodystrophy
-
Namnoum AB, Merriam GR, Moses AM, Levine MA. Reproductive dysfunction in women with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 83: 824-829, 1998.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 824-829
-
-
Namnoum, A.B.1
Merriam, G.R.2
Moses, A.M.3
Levine, M.A.4
-
48
-
-
0035970852
-
Expression of the extralarge G protein alpha-subunit XLalphas in neuroepithelial cells and young neurons during development of the rat nervous system
-
Pasolli HA, Huttner WB. Expression of the extralarge G protein alpha-subunit XLalphas in neuroepithelial cells and young neurons during development of the rat nervous system. Neurosci Lett 301: 119-122, 2001.
-
(2001)
Neurosci Lett
, vol.301
, pp. 119-122
-
-
Pasolli, H.A.1
Huttner, W.B.2
-
49
-
-
0034721880
-
Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization
-
Pasolli HA, Klemke M, Kehlenbach RH, Wang Y, Huttner WB. Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization. J Biol Chem 275: 33622-33632, 2000.
-
(2000)
J Biol Chem
, vol.275
, pp. 33622-33632
-
-
Pasolli, H.A.1
Klemke, M.2
Kehlenbach, R.H.3
Wang, Y.4
Huttner, W.B.5
-
50
-
-
34249099120
-
Silencing by imprinted noncoding RNAs: Is transcription the answer?
-
Pauler FM, Koerner MV, Barlow DP. Silencing by imprinted noncoding RNAs: is transcription the answer? Trends Genet 23: 284-292, 2007.
-
(2007)
Trends Genet
, vol.23
, pp. 284-292
-
-
Pauler, F.M.1
Koerner, M.V.2
Barlow, D.P.3
-
51
-
-
33645455282
-
Imprinting control within the compact Gnas locus
-
Peters J, Holmes R, Monk D, Beechey CV, Moore GE, Williamson CM. Imprinting control within the compact Gnas locus. Cytogenetic Genome Res 113: 194-201, 2006.
-
(2006)
Cytogenetic Genome Res
, vol.113
, pp. 194-201
-
-
Peters, J.1
Holmes, R.2
Monk, D.3
Beechey, C.V.4
Moore, G.E.5
Williamson, C.M.6
-
52
-
-
39749113991
-
Control of imprinting at the Gnas cluster
-
Peters J, Williamson CM. Control of imprinting at the Gnas cluster. Epigenetics 2: 207-213, 2007.
-
(2007)
Epigenetics
, vol.2
, pp. 207-213
-
-
Peters, J.1
Williamson, C.M.2
-
53
-
-
0033616719
-
A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2
-
Peters J, Wroe SF, Wells CA, Miller HJ, Bodle D, Beechey CV, Williamson CM, 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 USA 96: 3830-3835, 1999.
-
(1999)
Proc Natl Acad Sci USA
, 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
-
54
-
-
3543036987
-
The imprinted signaling protein XL alpha s 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 XL alpha s is required for postnatal adaptation to feeding. Nat Genet 36: 818-826, 2004.
-
(2004)
Nat Genet
, vol.36
, pp. 818-826
-
-
Plagge, A.1
Gordon, E.2
Dean, W.3
Boiani, R.4
Cinti, S.5
Peters, J.6
Kelsey, G.7
-
55
-
-
16244411099
-
Imprinted Nesp55 influences behavioral reactivity to novel environments
-
Plagge A, Isles AR, Gordon E, Humby T, Dean W, Gritsch S, Fischer-Colbrie R, Wilkinson LS, Kelsey G. Imprinted Nesp55 influences behavioral reactivity to novel environments. Mol Cell Biol 25: 3019-3026, 2005.
-
(2005)
Mol Cell Biol
, vol.25
, 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
-
57
-
-
39749100503
-
Physiological functions of the imprinted Gnas locus and its protein variants Galphas and XLalphas in human and mouse
-
Plagge A, Kelsey G, Germain-Lee EL. Physiological functions of the imprinted Gnas locus and its protein variants Galphas and XLalphas in human and mouse. J Endocrinol 196: 193-214, 2008.
-
(2008)
J Endocrinol
, vol.196
, pp. 193-214
-
-
Plagge, A.1
Kelsey, G.2
Germain-Lee, E.L.3
-
58
-
-
0035234557
-
Genomic imprinting: Parental influence on the genome
-
Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2: 21-32, 2001.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 21-32
-
-
Reik, W.1
Walter, J.2
-
59
-
-
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 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 20: 663-671, 2005.
-
(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
-
60
-
-
20444397369
-
Deficiency of the G-protein alpha-subunit G(s)alpha in osteoblasts leads to differential effects on trabecular and cortical bone
-
Sakamoto A, Chen M, Nakamura T, Xie T, Karsenty G, Weinstein LS. Deficiency of the G-protein alpha-subunit G(s)alpha in osteoblasts leads to differential effects on trabecular and cortical bone. J Biol Chem 280: 21369-21375, 2005.
-
(2005)
J Biol Chem
, vol.280
, pp. 21369-21375
-
-
Sakamoto, A.1
Chen, M.2
Nakamura, T.3
Xie, T.4
Karsenty, G.5
Weinstein, L.S.6
-
61
-
-
0035170103
-
Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20
-
Salafsky IS, MacGregor SN, Claussen U, von Eggeling F. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Prenat Diagn 21: 860-863, 2001.
-
(2001)
Prenat Diagn
, vol.21
, pp. 860-863
-
-
Salafsky, I.S.1
MacGregor, S.N.2
Claussen, U.3
von Eggeling, F.4
-
62
-
-
38349100549
-
Epigenetic events in mammalian germ-cell development: Reprogramming and beyond
-
Sasaki H, Matsui Y. Epigenetic events in mammalian germ-cell development: reprogramming and beyond. Nature Rev Genetics 9: 129-140, 2008.
-
(2008)
Nature Rev Genetics
, vol.9
, pp. 129-140
-
-
Sasaki, H.1
Matsui, Y.2
-
63
-
-
0036426326
-
The imprinted oedematous-small mutation on mouse chromosome 2 identifies new roles for Gnas and Gnasxl in development
-
Skinner JA, Cattanach BM, Peters J. The imprinted oedematous-small mutation on mouse chromosome 2 identifies new roles for Gnas and Gnasxl in development. Genomics 80: 373-375, 2002.
-
(2002)
Genomics
, vol.80
, pp. 373-375
-
-
Skinner, J.A.1
Cattanach, B.M.2
Peters, J.3
-
64
-
-
33645453109
-
Regulation of growth and metabolism by imprinted genes
-
Smith FM, Garfield AS, Ward A. Regulation of growth and metabolism by imprinted genes. Cytogenet Genome Res 113: 279-291, 2006.
-
(2006)
Cytogenet Genome Res
, vol.113
, pp. 279-291
-
-
Smith, F.M.1
Garfield, A.S.2
Ward, A.3
-
65
-
-
33750470266
-
Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth
-
Varrault A, Gueydan C, Delalbre A, Bellmann A, Houssami S, Aknin C, Severac D, Chotard L, Kahli M, Le Digarcher A, Pavlidis P, Journot L. Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Develop Cell 11: 711-722, 2006.
-
(2006)
Develop Cell
, vol.11
, pp. 711-722
-
-
Varrault, A.1
Gueydan, C.2
Delalbre, A.3
Bellmann, A.4
Houssami, S.5
Aknin, C.6
Severac, D.7
Chotard, L.8
Kahli, M.9
Le Digarcher, A.10
Pavlidis, P.11
Journot, L.12
-
66
-
-
18744405678
-
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: Clinical, cytogenetic and molecular analysis
-
Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, Hatzipouliou A, Donoghue J, Karatzis P, Katsarou E, Petersen MB. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. Eur J Hum Genet 10: 694-698, 2002.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 694-698
-
-
Velissariou, V.1
Antoniadi, T.2
Gyftodimou, J.3
Bakou, K.4
Grigoriadou, M.5
Christopoulou, S.6
Hatzipouliou, A.7
Donoghue, J.8
Karatzis, P.9
Katsarou, E.10
Petersen, M.B.11
-
67
-
-
0025195106
-
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis
-
Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, Spiegel AM. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 87: 8287-8290, 1990.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, 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
-
68
-
-
34447274092
-
Studies of the regulation and function of the Gs[alpha] gene Gnas using gene targeting technology
-
Weinstein LS, Xie T, Zhang QH, Chen M. Studies of the regulation and function of the Gs[alpha] gene Gnas using gene targeting technology. Pharmacol Ther 115: 271, 2007.
-
(2007)
Pharmacol Ther
, vol.115
, pp. 271
-
-
Weinstein, L.S.1
Xie, T.2
Zhang, Q.H.3
Chen, M.4
-
69
-
-
0034793851
-
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting
-
Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 22: 675-705, 2001.
-
(2001)
Endocr Rev
, vol.22
, pp. 675-705
-
-
Weinstein, L.S.1
Yu, S.2
Warner, D.R.3
Liu, J.4
-
70
-
-
25444482429
-
Mammalian G proteins and their cell type specific functions
-
Wettschureck N, Offermanns S. Mammalian G proteins and their cell type specific functions. Physiol Rev 85: 1159-1204, 2005.
-
(2005)
Physiol Rev
, vol.85
, pp. 1159-1204
-
-
Wettschureck, N.1
Offermanns, S.2
-
71
-
-
3543006557
-
A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas
-
Williamson CM, Ball ST, Nottingham WT, Skinner JA, Plagge A, Turner MD, Powles N, Hough T, Papworth D, Fraser WD, Maconochie M, Peters J. A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat Genet 36: 894-899, 2004.
-
(2004)
Nat Genet
, vol.36
, 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
-
72
-
-
33644617486
-
Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster
-
Williamson CM, Turner MD, Ball ST, Nottingham WT, 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 38: 350-355, 2006.
-
(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
-
73
-
-
33751364987
-
Genomic imprinting in mammals: Emerging themes and established theories
-
Wood AJ, Oakey RJ. Genomic imprinting in mammals: emerging themes and established theories. PLoS Genetics 2: e147, 2006.
-
(2006)
PLoS Genetics
, vol.2
-
-
Wood, A.J.1
Oakey, R.J.2
-
74
-
-
0034724290
-
An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus
-
Wroe SF, Kelsey G, Skinner JA, Bodle D, Ball ST, Beechey CV, Peters J, Williamson CM. An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc Natl Acad Sci USA 97: 3342-3346, 2000.
-
(2000)
Proc Natl Acad Sci USA
, 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
-
75
-
-
37649025080
-
Beta cell-specific deficiency of the stimulatory G protein alpha-subunit Gsalpha leads to reduced beta cell mass and insulin-deficient diabetes
-
Xie T, Chen M, Zhang QH, Ma Z, Weinstein LS. Beta cell-specific deficiency of the stimulatory G protein alpha-subunit Gsalpha leads to reduced beta cell mass and insulin-deficient diabetes. Proc Natl Acad Sci USA 104: 19601-19606, 2007.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 19601-19606
-
-
Xie, T.1
Chen, M.2
Zhang, Q.H.3
Ma, Z.4
Weinstein, L.S.5
-
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 EW, Frontera M, Kelsey G, Weinstein LS. 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 281: 18989-18999, 2006.
-
(2006)
J Biol Chem
, vol.281
, 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 LS. Increased insulin sensitivity in Gsalpha knockout mice. J Biol Chem 276: 19994-19998, 2001.
-
(2001)
J Biol Chem
, vol.276
, 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 AF, Quon MJ, Reitman ML, Weinstein LS. Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism. J Clin Invest 105: 615-623, 2000.
-
(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.F.7
Quon, M.J.8
Reitman, M.L.9
Weinstein, L.S.10
-
79
-
-
0032555241
-
Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene
-
Yu S, Yu D, Lee E, Eckhaus M, Lee R, Corria Z, Accili D, Westphal H, Weinstein LS. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc Natl Acad Sci USA 95: 8715-8720, 1998.
-
(1998)
Proc Natl Acad Sci USA
, 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
|