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26 results
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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. Horvath A, et al. Among authors: robinson white a. Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155. Clin Cancer Res. 2008. PMID: 18223213 Free article.
Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors.
Meoli E, Bossis I, Cazabat L, Mavrakis M, Horvath A, Stergiopoulos S, Shiferaw ML, Fumey G, Perlemoine K, Muchow M, Robinson-White A, Weinberg F, Nesterova M, Patronas Y, Groussin L, Bertherat J, Stratakis CA. Meoli E, et al. Among authors: robinson white a. Cancer Res. 2008 May 1;68(9):3133-41. doi: 10.1158/0008-5472.CAN-08-0064. Cancer Res. 2008. PMID: 18451138 Free PMC article.
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA. Horvath A, et al. Nat Genet. 2006 Jul;38(7):794-800. doi: 10.1038/ng1809. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767104
A mouse model for Carney complex.
Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos S, Robinson-White A, Weinberg F, Meoli E, Bornstein SR, Stratakis CA. Griffin KJ, et al. Endocr Res. 2004 Nov;30(4):903-11. doi: 10.1081/erc-200044145. Endocr Res. 2004. PMID: 15666843
A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions.
Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos SG, Robinson-White A, Lenherr SM, Weinberg FD, Claflin ES, Batista D, Bourdeau I, Voutetakis A, Sandrini F, Meoli EM, Bauer AJ, Cho-Chung YS, Bornstein SR, Carney JA, Stratakis CA. Griffin KJ, et al. J Med Genet. 2004 Dec;41(12):923-31. doi: 10.1136/jmg.2004.028043. J Med Genet. 2004. PMID: 15591278 Free PMC article.
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