264 related articles for article (PubMed ID: 29318463)
1. A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.
Fu J; Lai F; Chen Y; Wan X; Wei G; Li Y; Xiao H; Cao X
J Endocrinol Invest; 2018 Aug; 41(8):909-917. PubMed ID: 29318463
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 26416542
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 22112814
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20190548
[TBL] [Abstract][Full Text] [Related]
5. Association of Carney Complex with an Intronic Splice Site Mutation in the PRKAR1A Gene.
Guo H; Xiong H; Li Z; Xu J; Zhang H; Chen X; Hu S
Horm Metab Res; 2016 Jun; 48(6):384-8. PubMed ID: 26788925
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 16464939
[TBL] [Abstract][Full Text] [Related]
7. PRKAR1A mutations in primary pigmented nodular adrenocortical disease.
Cazabat L; Ragazzon B; Groussin L; Bertherat J
Pituitary; 2006; 9(3):211-9. PubMed ID: 17036196
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 22205709
[TBL] [Abstract][Full Text] [Related]
9. A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.
Gennari M; Stratakis CA; Hovarth A; Pirazzoli P; Cicognani A
Clin Endocrinol (Oxf); 2008 Nov; 69(5):751-5. PubMed ID: 18445140
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 21047926
[TBL] [Abstract][Full Text] [Related]
11.
Kiefer FW; Winhofer Y; Iacovazzo D; Korbonits M; Wolfsberger S; Knosp E; Trautinger F; Höftberger R; Krebs M; Luger A; Gessl A
Eur J Endocrinol; 2017 Aug; 177(2):K7-K12. PubMed ID: 28522647
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 19293268
[TBL] [Abstract][Full Text] [Related]
13. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).
Stratakis CA
Ann N Y Acad Sci; 2002 Jun; 968():3-21. PubMed ID: 12119264
[TBL] [Abstract][Full Text] [Related]
14. A novel PRKAR1A mutation in Korean Carney complex family.
Rhee SY; Kwon HS; Lee JH; Woo JT; Kim MK; Lim YJ; Rhee BA; Koh SH; Lee S; Lee MH; Kim DY; Chon S; Oh S; Kim SW; Kim JW; Kim YS; Choi YK
Exp Clin Endocrinol Diabetes; 2012 Jan; 120(1):7-13. PubMed ID: 22020668
[TBL] [Abstract][Full Text] [Related]
15. A Novel Missense PRKAR1A Variant Causes Carney Complex.
Kim B; Jang HN; Chae KS; Shin HS; Kim YH; Kim SJ; Seong MW; Kim JH
Endocrinol Metab (Seoul); 2022 Oct; 37(5):810-815. PubMed ID: 36193716
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures.
Papanastasiou L; Fountoulakis S; Voulgaris N; Kounadi T; Choreftaki T; Kostopoulou A; Zografos G; Lyssikatos C; Stratakis CA; Piaditis G
Hormones (Athens); 2016; 15(1):129-35. PubMed ID: 27377598
[TBL] [Abstract][Full Text] [Related]
17. Carney complex with PRKAR1A gene mutation: A case report and literature review.
Liu Q; Tong D; Liu G; Yi Y; Zhang D; Zhang J; Zhang Y; Huang Z; Li Y; Chen R; Guan Y; Yi X; Jiang J
Medicine (Baltimore); 2017 Dec; 96(50):e8999. PubMed ID: 29390296
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 25336503
[TBL] [Abstract][Full Text] [Related]
19. Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG.
Guo H; Xu J; Xiong H; Hu S
World J Surg Oncol; 2015 Feb; 13():83. PubMed ID: 25890363
[TBL] [Abstract][Full Text] [Related]
20. A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex.
Jang YS; Moon SD; Kim JH; Lee IS; Lee JM; Kim HS
Korean J Intern Med; 2015 Sep; 30(5):730-4. PubMed ID: 26354069
[No Abstract] [Full Text] [Related]
[Next] [New Search]
