-
1
-
-
84883966500
-
Guanine nucleotide-binding protein G s α (GNAS1): Fibrous dysplasia, McCune- Albright syndrome, Albright hereditary osteodystrophy, and pseudohypoparathyroidism
-
2nd edn, Epstein CJ, Erickson RP, Wynshaw-Boris A (eds), Oxford University Press, New York
-
Weinstein LS (2008) Guanine nucleotide-binding protein G s α (GNAS1 ): fibrous dysplasia, McCune- Albright syndrome, Albright hereditary osteodystrophy, and pseudohypoparathyroidism. In: Epstein CJ, Erickson RP, Wynshaw-Boris A (eds) Inborn errors of development: the molecular basis of clinical disorders of morphogenesis, 2nd edn. Oxford University Press, New York, pp 1277-1288
-
(2008)
Inborn errors of development: The molecular basis of clinical disorders of morphogenesis
, pp. 1277-1288
-
-
Weinstein, L.S.1
-
2
-
-
1942473082
-
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients
-
de Sanctis L, Vai S, Andreo MR et al (2004) Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. J Clin Endocrinol Metab 89:1650-1655
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1650-1655
-
-
de Sanctis, L.1
Vai, S.2
Andreo, M.R.3
-
3
-
-
84889659515
-
Spinal cord compression in pseudohypoparathyroidism
-
Roberts TT, Khasnavis S, Papaliodis DN et al (2013) Spinal cord compression in pseudohypoparathyroidism. Spine J 13:e15-e19
-
(2013)
Spine J
, vol.13
, pp. e15-e19
-
-
Roberts, T.T.1
Khasnavis, S.2
Papaliodis, D.N.3
-
4
-
-
79960104511
-
Increased prevalence of carpal tunnel syndrome in Albright hereditary osteodystrophy
-
Joseph AW, Shoemaker AH, Germain-Lee EL (2011) Increased prevalence of carpal tunnel syndrome in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 96:2065-2073
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 2065-2073
-
-
Joseph, A.W.1
Shoemaker, A.H.2
Germain-Lee, E.L.3
-
5
-
-
38049169578
-
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: Possible cerebral imprinting of Gsα
-
Mouallem M, Shaharabany M, Weintrob N et al (2008) Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsα. Clin Endocrinol (Oxf) 68:233-239
-
(2008)
Clin Endocrinol (Oxf)
, vol.68
, pp. 233-239
-
-
Mouallem, M.1
Shaharabany, M.2
Weintrob, N.3
-
6
-
-
0034331685
-
Progressive osseous heteroplasia
-
Kaplan FS, Shore EI (2000) Progressive osseous heteroplasia. J Bone Miner Res 15:2084-2094
-
(2000)
J Bone Miner Res
, vol.15
, pp. 2084-2094
-
-
Kaplan, F.S.1
Shore, E.I.2
-
8
-
-
0031732659
-
Reproductive dysfunction in women with Albright’s hereditary osteodystrophy
-
Namnoum AB, Merriam GR, Moses AM et al (1998) Reproductive dysfunction in women with Albright’s hereditary osteodystrophy. J Clin Endocrinol Metab 83:824-829
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 824-829
-
-
Namnoum, A.B.1
Merriam, G.R.2
Moses, A.M.3
-
9
-
-
0141606268
-
Growth hormone deficiency in pseudohypoparathyroidism type 1a: Another manifestation of multihormone resistance
-
Germain-Lee EL, Groman J, Crane JL et al (2003) Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 88: 4059-4069
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4059-4069
-
-
Germain-Lee, E.L.1
Groman, J.2
Crane, J.L.3
-
10
-
-
33947520961
-
Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Gα s in the development of human obesity
-
Long DN, McGuire S, Levine MA et al (2007) Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Gα s in the development of human obesity. J Clin Endocrinol Metab 92:1073-1079
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 1073-1079
-
-
Long, D.N.1
McGuire, S.2
Levine, M.A.3
-
11
-
-
84887444865
-
Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a
-
Muniyappa R, Warren MA, Zhao X et al (2013) Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a. J Clin Endocrinol Metab 98:E1796-E1801
-
(2013)
J Clin Endocrinol Metab
, vol.98
, pp. E1796-E1801
-
-
Muniyappa, R.1
Warren, M.A.2
Zhao, X.3
-
12
-
-
66049136160
-
Central nervous system imprinting of the G protein G s α and its role in metabolic regulation
-
Chen M, Wang J, Dickerson KE et al (2009) Central nervous system imprinting of the G protein G s α and its role in metabolic regulation. Cell Metab 9:548-555
-
(2009)
Cell Metab
, vol.9
, pp. 548-555
-
-
Chen, M.1
Wang, J.2
Dickerson, K.E.3
-
13
-
-
34447274092
-
Studies of the regulation and function of the G s α gene Gnas using gene targeting technology
-
Weinstein LS, Xie T, Zhang QH et al (2007) Studies of the regulation and function of the G s α gene Gnas using gene targeting technology. Pharmacol Ther 115:271-291
-
(2007)
Pharmacol Ther
, vol.115
, pp. 271-291
-
-
Weinstein, L.S.1
Xie, T.2
Zhang, Q.H.3
-
14
-
-
40849106398
-
A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance
-
Mariot V, Maupetit-Mehouas S, Sinding C et al (2008) A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance. J Clin Endocrinol Metab 93:661-665
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 661-665
-
-
Mariot, V.1
Maupetit-Mehouas, S.2
Sinding, C.3
-
15
-
-
76149108406
-
Pseudohypoparathyroidism and GNAS epigenetic defects: Clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients
-
Mantovani G, de Sanctis L, Barbieri AM et al (2010) Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab 95:651-658
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 651-658
-
-
Mantovani, G.1
de Sanctis, L.2
Barbieri, A.M.3
-
16
-
-
79960640986
-
G s α activity is reduced in erythrocyte membranes of patients with pseudohypoparathyroidism due to epigenetic alterations at the GNAS locus
-
Zazo C, Thiele S, Martin C et al (2011) G s α activity is reduced in erythrocyte membranes of patients with pseudohypoparathyroidism due to epigenetic alterations at the GNAS locus. J Bone Miner Res 26:1864-1870
-
(2011)
J Bone Miner Res
, vol.26
, pp. 1864-1870
-
-
Zazo, C.1
Thiele, S.2
Martin, C.3
-
17
-
-
0028850141
-
A deletion hotspot in exon 7 of the G s α gene (GNAS1 ) in patients with Albright hereditary osteodystrophy
-
Yu S, Yu D, Hainline BE et al (1995) A deletion hotspot in exon 7 of the G s α gene (GNAS1 ) in patients with Albright hereditary osteodystrophy. Hum Mol Genet 4:2001-2002
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2001-2002
-
-
Yu, S.1
Yu, D.2
Hainline, B.E.3
-
18
-
-
34249862513
-
A disruptive mutation in exon 3 of the GNAS gene with Albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsα-L deficiency
-
Thiele S, Werner R, Ahrens W et al (2007) A disruptive mutation in exon 3 of the GNAS gene with Albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsα-L deficiency. J Clin Endocrinol Metab 92:1764-1768
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 1764-1768
-
-
Thiele, S.1
Werner, R.2
Ahrens, W.3
-
19
-
-
0037050365
-
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
-
Shore EM, Ahn J, Jan de Beur S et al (2002) Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med 346: 99-106
-
(2002)
N Engl J Med
, vol.346
, pp. 99-106
-
-
Shore, E.M.1
Ahn, J.2
Jan de Beur, S.3
-
20
-
-
0032555241
-
Variable and tissuespecific hormone resistance in heterotrimeric G s protein α-subunit G s α knockout mice is due to tissuespecific imprinting of the G s α gene
-
Yu S, Yu D, Lee E et al (1998) Variable and tissuespecific hormone resistance in heterotrimeric G s protein α-subunit G s α knockout mice is due to tissuespecific imprinting of the G s α gene. Proc Natl Acad Sci U S A 95:8715-8720
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 8715-8720
-
-
Yu, S.1
Yu, D.2
Lee, E.3
-
21
-
-
84894460206
-
Postnatal establishment of allelic Gα s silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gα s disruption
-
Turan S, Fernandez-Rebollo E, Aydin C et al (2014) Postnatal establishment of allelic Gα s silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gα s disruption. J Bone Miner Res 29:749-760
-
(2014)
J Bone Miner Res
, vol.29
, pp. 749-760
-
-
Turan, S.1
Fernandez-Rebollo, E.2
Aydin, C.3
-
22
-
-
0034752247
-
The stimulatory G protein α- subunit gene: Mutations and imprinting lead to complex phenotypes
-
Weinstein LS (2001) The stimulatory G protein α- subunit gene: mutations and imprinting lead to complex phenotypes. J Clin Endocrinol Metab 86:4622-4626
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4622-4626
-
-
Weinstein, L.S.1
-
23
-
-
0027366282
-
The renal response to exogenous parathyroid hormone in treated pseudohypoparathyroidism
-
Stone MD, Hosking DJ, Garcia-Himmelstine C et al (1993) The renal response to exogenous parathyroid hormone in treated pseudohypoparathyroidism. Bone 14:727-735
-
(1993)
Bone
, vol.14
, pp. 727-735
-
-
Stone, M.D.1
Hosking, D.J.2
Garcia-Himmelstine, C.3
-
24
-
-
42449121047
-
Severe obesity and insulin resistance due to deletion of the maternal G s α allele is reversed by paternal deletion of the G s α imprint control region
-
Xie T, Chen M, Gavrilova O et al (2008) Severe obesity and insulin resistance due to deletion of the maternal G s α allele is reversed by paternal deletion of the G s α imprint control region. Endocrinology 149: 2443-2450
-
(2008)
Endocrinology
, vol.149
, pp. 2443-2450
-
-
Xie, T.1
Chen, M.2
Gavrilova, O.3
-
25
-
-
84865426628
-
G s α deficiency in the paraventricular nucleus of the hypothalamus partially contributes to obesity associated with G s α mutations
-
Chen M, Berger A, Kablan A et al (2012) G s α deficiency in the paraventricular nucleus of the hypothalamus partially contributes to obesity associated with G s α mutations. Endocrinology 153:4256-4265
-
(2012)
Endocrinology
, vol.153
, pp. 4256-4265
-
-
Chen, M.1
Berger, A.2
Kablan, A.3
-
26
-
-
0033306915
-
Resistance to the lipolytic action of epinephrine: A new feature of protein G s deficiency
-
Carel JC, Le Stunff C, Condamine L et al (1999) Resistance to the lipolytic action of epinephrine: a new feature of protein G s deficiency. J Clin Endocrinol Metab 84:4127-4131
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4127-4131
-
-
Carel, J.C.1
Le Stunff, C.2
Condamine, L.3
-
27
-
-
67649233890
-
Pseudohypoparathyroidism type 1A and morbid obesity in infancy
-
Dekelbab BH, Aughton DJ, Levine MA (2009) Pseudohypoparathyroidism type 1A and morbid obesity in infancy. Endocr Pract 15:249-253
-
(2009)
Endocr Pract
, vol.15
, pp. 249-253
-
-
Dekelbab, B.H.1
Aughton, D.J.2
Levine, M.A.3
-
28
-
-
84881139320
-
Energy expenditure in obese children with pseudohypoparathyroidism type 1a
-
Shoemaker AH, Lomenick JP, Saville BR et al (2013) Energy expenditure in obese children with pseudohypoparathyroidism type 1a. Int J Obes (Lond) 37: 1147-1153
-
(2013)
Int J Obes (Lond)
, vol.37
, pp. 1147-1153
-
-
Shoemaker, A.H.1
Lomenick, J.P.2
Saville, B.R.3
-
29
-
-
15344349695
-
Chondrocyte-specific knockout of the G protein G s α leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation
-
Sakamoto A, Chen M, Kobayashi T et al (2005) Chondrocyte-specific knockout of the G protein G s α leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation. J Bone Miner Res 20:663-671
-
(2005)
J Bone Miner Res
, vol.20
, pp. 663-671
-
-
Sakamoto, A.1
Chen, M.2
Kobayashi, T.3
-
30
-
-
6944221426
-
Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo
-
Bastepe M, Weinstein LS, Ogata N et al (2004) Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci U S A 101:14794-14799
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 14794-14799
-
-
Bastepe, M.1
Weinstein, L.S.2
Ogata, N.3
-
31
-
-
79959637023
-
Heterotopic ossifications in a mouse model of Albright hereditary osteodystrophy
-
Huso DL, Edie S, Levine MA et al (2011) Heterotopic ossifications in a mouse model of Albright hereditary osteodystrophy. PLoS One 6:e21755
-
(2011)
PLoS One
, vol.6
-
-
Huso, D.L.1
Edie, S.2
Levine, M.A.3
-
32
-
-
84887420723
-
Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification
-
Regard JB, Malhotra D, Gvozdenovic-Jeremic J et al (2013) Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification. Nat Med 19:1505-1512
-
(2013)
Nat Med
, vol.19
, pp. 1505-1512
-
-
Regard, J.B.1
Malhotra, D.2
Gvozdenovic-Jeremic, J.3
-
33
-
-
84870743491
-
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance
-
Linglart A, Fryssira H, Hiort O et al (2012) PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. J Clin Endocrinol Metab 97: E2328-E2338
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E2328-E2338
-
-
Linglart, A.1
Fryssira, H.2
Hiort, O.3
-
34
-
-
79958182720
-
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance
-
Linglart A, Menguy C, Couvineau A et al (2011) Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med 364:2218-2226
-
(2011)
N Engl J Med
, vol.364
, pp. 2218-2226
-
-
Linglart, A.1
Menguy, C.2
Couvineau, A.3
-
35
-
-
79957622746
-
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively G s α-receptor interaction
-
Thiele S, de Sanctis L, Werner R et al (2011) Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively G s α-receptor interaction. Hum Mutat 32:653-660
-
(2011)
Hum Mutat
, vol.32
, pp. 653-660
-
-
Thiele, S.1
de Sanctis, L.2
Werner, R.3
-
36
-
-
84866152271
-
Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B
-
Neary NM, El-Maouche D, Hopkins R et al (2012) Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab 97:3025-3030
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. 3025-3030
-
-
Neary, N.M.1
El-Maouche, D.2
Hopkins, R.3
-
37
-
-
78049515805
-
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: First study on the effect on growth
-
Mantovani G, Ferrante E, Giavoli C et al (2010) Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. J Clin Endocrinol Metab 95:5011-5017
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 5011-5017
-
-
Mantovani, G.1
Ferrante, E.2
Giavoli, C.3
-
38
-
-
40849137683
-
Preimplantation genetic diagnosis for severe Albright hereditary osteodystrophy
-
Lietman SA, Goldfarb J, Desai N et al (2008) Preimplantation genetic diagnosis for severe Albright hereditary osteodystrophy. J Clin Endocrinol Metab 93:901-904
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 901-904
-
-
Lietman, S.A.1
Goldfarb, J.2
Desai, N.3
-
39
-
-
84883918977
-
G s α, pseudohypoparathyroidism, fibrous dysplasia, and McCune-Albright syndrome
-
Thakkar RV, Whyte MP, Eisman JA, Igarashi T (eds) (2013), Academic, London
-
Weinstein LS, Collins MT, Spiegel AM (2013) G s α, pseudohypoparathyroidism, fibrous dysplasia, and McCune-Albright syndrome. In: Thakkar RV, Whyte MP, Eisman JA, Igarashi T (eds) (2013) Genetics of bone biology and skeletal disease. Academic, London, pp 425-440
-
(2013)
Genetics of bone biology and skeletal disease
, pp. 425-440
-
-
Weinstein, L.S.1
Collins, M.T.2
Spiegel, A.M.3
|