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Page 1
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 pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus.
Bossis I, Voutetakis A, Matyakhina L, Pack S, Abu-Asab M, Bourdeau I, Griffin KJ, Courcoutsakis N, Stergiopoulos S, Batista D, Tsokos M, Stratakis CA. Bossis I, et al. Among authors: griffin kj. J Med Genet. 2004 Aug;41(8):596-600. doi: 10.1136/jmg.2004.020214. J Med Genet. 2004. PMID: 15286154 Free PMC article.
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.
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. Among authors: griffin kj. Nat Genet. 2006 Jul;38(7):794-800. doi: 10.1038/ng1809. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767104
Mouse Prkar1a haploinsufficiency leads to an increase in tumors in the Trp53+/- or Rb1+/- backgrounds and chemically induced skin papillomas by dysregulation of the cell cycle and Wnt signaling.
Almeida MQ, Muchow M, Boikos S, Bauer AJ, Griffin KJ, Tsang KM, Cheadle C, Watkins T, Wen F, Starost MF, Bossis I, Nesterova M, Stratakis CA. Almeida MQ, et al. Among authors: griffin kj. Hum Mol Genet. 2010 Apr 15;19(8):1387-98. doi: 10.1093/hmg/ddq014. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080939 Free PMC article.
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population.
Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA. Horvath A, et al. Cancer Res. 2006 Dec 15;66(24):11571-5. doi: 10.1158/0008-5472.CAN-06-2914. Cancer Res. 2006. PMID: 17178847
151 results