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Items: 1 to 20 of 111

1.

Conformational changes in the G protein Gs induced by the β2 adrenergic receptor.

Chung KY, Rasmussen SG, Liu T, Li S, DeVree BT, Chae PS, Calinski D, Kobilka BK, Woods VL Jr, Sunahara RK.

Nature. 2011 Sep 28;477(7366):611-5. doi: 10.1038/nature10488.

2.

Crystal structure of the β2 adrenergic receptor-Gs protein complex.

Rasmussen SG, DeVree BT, Zou Y, Kruse AC, Chung KY, Kobilka TS, Thian FS, Chae PS, Pardon E, Calinski D, Mathiesen JM, Shah ST, Lyons JA, Caffrey M, Gellman SH, Steyaert J, Skiniotis G, Weis WI, Sunahara RK, Kobilka BK.

Nature. 2011 Jul 19;477(7366):549-55. doi: 10.1038/nature10361.

3.

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.

Thiele S, de Sanctis L, Werner R, Grötzinger J, Aydin C, Jüppner H, Bastepe M, Hiort O.

Hum Mutat. 2011 Jun;32(6):653-60. doi: 10.1002/humu.21489. Epub 2011 Apr 12.

4.

Haematopoietic stem cells depend on Galpha(s)-mediated signalling to engraft bone marrow.

Adams GB, Alley IR, Chung UI, Chabner KT, Jeanson NT, Lo Celso C, Marsters ES, Chen M, Weinstein LS, Lin CP, Kronenberg HM, Scadden DT.

Nature. 2009 May 7;459(7243):103-7. doi: 10.1038/nature07859. Epub 2009 Mar 25.

5.

Association of the GNAS locus with severe malaria.

Auburn S, Diakite M, Fry AE, Ghansah A, Campino S, Richardson A, Jallow M, Sisay-Joof F, Pinder M, Griffiths MJ, Peshu N, Williams TN, Marsh K, Molyneux ME, Taylor TE, Koram KA, Oduro AR, Rogers WO, Rockett KA, Haldar K, Kwiatkowski DP.

Hum Genet. 2008 Dec;124(5):499-506. doi: 10.1007/s00439-008-0575-8. Epub 2008 Oct 26.

6.

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.

Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ.

Am J Med Genet A. 2008 Jul 15;146A(14):1788-96. doi: 10.1002/ajmg.a.32346.

7.

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

Mariot V, Maupetit-Méhouas S, Sinding C, Kottler ML, Linglart A.

J Clin Endocrinol Metab. 2008 Mar;93(3):661-5. doi: 10.1210/jc.2007-0927. Epub 2008 Jan 8.

PMID:
18182455
8.

Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle.

Makita N, Sato J, Rondard P, Fukamachi H, Yuasa Y, Aldred MA, Hashimoto M, Fujita T, Iiri T.

Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17424-9. Epub 2007 Oct 25.

9.

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.

J Clin Endocrinol Metab. 2007 May;92(5):1764-8. Epub 2007 Feb 13.

PMID:
17299070
10.

Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor?

Kalfa N, Ecochard A, Patte C, Duvillard P, Audran F, Pienkowski C, Thibaud E, Brauner R, Lecointre C, Plantaz D, Guedj AM, Paris F, Baldet P, Lumbroso S, Sultan C.

J Clin Endocrinol Metab. 2006 May;91(5):1842-7. Epub 2006 Feb 28.

PMID:
16507630
11.

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.

Nat Genet. 2006 Mar;38(3):350-5. Epub 2006 Feb 5.

PMID:
16462745
12.

A census of mammalian imprinting.

Morison IM, Ramsay JP, Spencer HG.

Trends Genet. 2005 Aug;21(8):457-65. Review.

PMID:
15990197
13.

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.

Geneviève D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani-Samara D, Pinto G, Ozilou C, Abeguilé G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M.

Eur J Hum Genet. 2005 Sep;13(9):1033-9.

14.

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.

Proc Natl Acad Sci U S A. 2005 May 17;102(20):7386-91. Epub 2005 May 9.

15.

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M.

Am J Hum Genet. 2005 May;76(5):804-14. Epub 2005 Mar 30. Erratum in: Am J Hum Genet. 2007 Jul;81(1):196.

16.

GNAS locus and pseudohypoparathyroidism.

Bastepe M, Jüppner H.

Horm Res. 2005;63(2):65-74. Epub 2005 Feb 9. Review.

17.

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.

Nat Genet. 2005 Jan;37(1):25-7. Epub 2004 Dec 12.

PMID:
15592469
18.

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.

J Clin Endocrinol Metab. 2004 Dec;89(12):6316-9.

PMID:
15579796
19.

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.

Liu J, Nealon JG, Weinstein LS.

Hum Mol Genet. 2005 Jan 1;14(1):95-102. Epub 2004 Nov 10.

PMID:
15537666
20.

Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo.

Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Jüppner H, Kronenberg HM, Chung UI.

Proc Natl Acad Sci U S A. 2004 Oct 12;101(41):14794-9. Epub 2004 Sep 30.

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