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Items: 1 to 20 of 95

1.

Intragenic suppression of a constitutively active allele of Gsα associated with McCune-Albright syndrome.

Tobar-Rubin R, Sultan D, Janevska D, Turcic K, Carroll J, Ooms L, Pals-Rylaarsdam R.

J Mol Endocrinol. 2013 Feb 26;50(2):193-201. doi: 10.1530/JME-12-0087. Print 2013 Apr.

2.

Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.

Turcic K, Tobar-Rubin R, Janevska D, Carroll J, Din E, Alvarez R, Haick J, Pals-Rylaarsdam R.

J Mol Endocrinol. 2014 Jun;52(3):321-31. doi: 10.1530/JME-13-0297.

PMID:
24850831
3.

Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.

Mariot V, Wu JY, Aydin C, Mantovani G, Mahon MJ, Linglart A, Bastepe M.

Bone. 2011 Feb;48(2):312-20. doi: 10.1016/j.bone.2010.09.032. Epub 2010 Sep 29.

4.
5.

G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome.

Weinstein LS.

J Bone Miner Res. 2006 Dec;21 Suppl 2:P120-4. Review.

6.

A novel, complex heterozygous mutation within Gsalpha gene in patient with McCune-Albright syndrome.

Song HD, Chen FL, Shi WJ, Wang S, Zhang Q, Hu RM, Chen JL.

Endocrine. 2002 Jul;18(2):121-8.

PMID:
12374458
7.

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue.

Angelousi A, Fencl F, Faucz FR, Malikova J, Sumnik Z, Lebl J, Stratakis CA.

Hormones (Athens). 2015 Jul-Sep;14(3):447-50. doi: 10.14310/horm.2002.1578.

8.

Increased IL-6-production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome.

Yamamoto T, Ozono K, Kasayama S, Yoh K, Hiroshima K, Takagi M, Matsumoto S, Michigami T, Yamaoka K, Kishimoto T, Okada S.

J Clin Invest. 1996 Jul 1;98(1):30-5.

9.
10.

Genetic and molecular aspects of McCune-Albright syndrome.

Lietman SA, Schwindinger WF, Levine MA.

Pediatr Endocrinol Rev. 2007 Aug;4 Suppl 4:380-5. Review.

PMID:
17982384
12.

Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.

Rey RA, Venara M, Coutant R, Trabut JB, Rouleau S, Lahlou N, Sultan C, Limal JM, Picard JY, Lumbroso S.

Hum Mol Genet. 2006 Dec 15;15(24):3538-43. Epub 2006 Nov 13.

PMID:
17101633
13.

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM.

N Engl J Med. 1991 Dec 12;325(24):1688-95.

14.

Activating mutation of GS alpha in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes.

Kim IS, Kim ER, Nam HJ, Chin MO, Moon YH, Oh MR, Yeo UC, Song SM, Kim JS, Uhm MR, Beck NS, Jin DK.

Horm Res. 1999;52(5):235-40.

PMID:
10844413
15.

Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.

Lumbroso S, Paris F, Sultan C; European Collaborative Study..

J Clin Endocrinol Metab. 2004 May;89(5):2107-13.

PMID:
15126527
16.

The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3,5,3'-triiodothyronine toxicosis of McCune-Albright syndrome.

Celi FS, Coppotelli G, Chidakel A, Kelly M, Brillante BA, Shawker T, Cherman N, Feuillan PP, Collins MT.

J Clin Endocrinol Metab. 2008 Jun;93(6):2383-9. doi: 10.1210/jc.2007-2237. Epub 2008 Mar 18.

17.

Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up.

De Luca F, Mitchell V, Wasniewska M, Arrigo T, Messina MF, Valenzise M, de Sanctis L, Lahlou N.

Eur J Endocrinol. 2008 Jun;158(6):921-7. doi: 10.1530/EJE-07-0494.

18.

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.

19.
20.

Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome.

de Sanctis L, Romagnolo D, Greggio N, Genitori L, Lala R, de Sanctis C.

J Pediatr Endocrinol Metab. 2002;15 Suppl 3:883-9.

PMID:
12199346

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