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Items: 1 to 20 of 102

1.

Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.

Bataille MG, Rhayem Y, Sousa SB, Libé R, Dambrun M, Chevalier C, Nigou M, Auzan C, North MO, Sa J, Gomes L, Salpea P, Horvath A, Stratakis CA, Hamzaoui N, Bertherat J, Clauser E.

Eur J Endocrinol. 2013 Nov 29;170(1):151-160. doi: 10.1530/EJE-13-0740. Print 2014 Jan.

2.

A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.

Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2012 Feb;97(2):351-9. doi: 10.1210/jc.2011-2244. Epub 2011 Nov 23.

3.

PRKAR1A mutations in primary pigmented nodular adrenocortical disease.

Cazabat L, Ragazzon B, Groussin L, Bertherat J.

Pituitary. 2006;9(3):211-9. Review.

PMID:
17036196
4.

Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.

Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJ, Main KM.

Horm Res Paediatr. 2010;73(2):115-9. doi: 10.1159/000277629. Epub 2010 Feb 9.

PMID:
20190548
5.

Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.

Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA.

J Clin Endocrinol Metab. 2011 Jan;96(1):E208-14. doi: 10.1210/jc.2010-1704. Epub 2010 Nov 3.

6.

Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).

Tadjine M, Lampron A, Ouadi L, Horvath A, Stratakis CA, Bourdeau I.

Clin Endocrinol (Oxf). 2008 Sep;69(3):367-73. doi: 10.1111/j.1365-2265.2008.03273.x. Epub 2008 Apr 14.

7.

Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.

Pereira AM, Hes FJ, Horvath A, Woortman S, Greene E, Bimpaki E, Alatsatianos A, Boikos S, Smit JW, Romijn JA, Nesterova M, Stratakis CA.

J Clin Endocrinol Metab. 2010 Jan;95(1):338-42. doi: 10.1210/jc.2009-0993. Epub 2009 Nov 13.

8.

Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A.

Sasaki A, Horikawa Y, Suwa T, Enya M, Kawachi S, Takeda J.

Mol Genet Metab. 2008 Nov;95(3):182-7. doi: 10.1016/j.ymgme.2008.07.009. Epub 2008 Aug 29.

PMID:
18760947
9.

In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex.

Patronas Y, Horvath A, Greene E, Tsang K, Bimpaki E, Haran M, Nesterova M, Stratakis CA.

J Clin Endocrinol Metab. 2012 Mar;97(3):E496-502. doi: 10.1210/jc.2011-2220. Epub 2011 Dec 28.

10.

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.

Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J.

J Clin Endocrinol Metab. 2002 Sep;87(9):4324-9.

PMID:
12213893
11.

Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected.

da Silva RM, Pinto E, Goldman SM, Andreoni C, Vieira TC, Abucham J.

Pituitary. 2011 Mar;14(1):61-7. doi: 10.1007/s11102-010-0260-5.

PMID:
20924687
12.

A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.

Sun Y, Chen X, Sun J, Wen X, Liu X, Zhang Y, Hoffman AR, Hu JF, Gao Y.

Can J Cardiol. 2015 Nov;31(11):1393-401. doi: 10.1016/j.cjca.2015.05.018. Epub 2015 May 30.

PMID:
26416542
13.

A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.

Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J.

J Clin Endocrinol Metab. 2006 May;91(5):1943-9. Epub 2006 Feb 7.

14.

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.

Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17.

15.

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA.

J Clin Endocrinol Metab. 2014 Jan;99(1):E183-8. doi: 10.1210/jc.2013-3159. Epub 2013 Dec 20.

16.

Adrenal pathophysiology: lessons from the Carney complex.

Groussin L, Cazabat L, René-Corail F, Jullian E, Bertherat J.

Horm Res. 2005;64(3):132-9. Epub 2005 Sep 27. Review.

PMID:
16192737
17.

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

Rhayem Y, Le Stunff C, Abdel Khalek W, Auzan C, Bertherat J, Linglart A, Couvineau A, Silve C, Clauser E.

J Biol Chem. 2015 Nov 13;290(46):27816-28. doi: 10.1074/jbc.M115.656553. Epub 2015 Sep 24.

18.

A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex.

Peck MC, Visser BC, Norton JA, Pasche L, Katznelson L.

Endocr Pract. 2010 Mar-Apr;16(2):198-204. doi: 10.4158/EP09245.OR.

PMID:
19833579
19.

Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma.

Iwata T, Tamanaha T, Koezuka R, Tochiya M, Makino H, Kishimoto I, Mizusawa N, Ono S, Inoshita N, Yamada S, Shimatsu A, Yoshimoto K.

Eur J Endocrinol. 2015 Jan;172(1):K5-10. doi: 10.1530/EJE-14-0685. Epub 2014 Oct 21.

20.

Large deletions of the PRKAR1A gene in Carney complex.

Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA.

Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155.

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