1 | ACDS, ADOHR, PDE4D, PRKAR1A
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| Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.
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| Elli FM, Bordogna P, de Sanctis L, Giachero F, Verrua E, Segni M, Mazzanti L, Boldrin V, Toromanovic A, Spada A, Mantovani G.
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| J Bone Miner Res 31(6):1215-24. doi: 10.1002/jbmr.2785. Epub 2016 Feb 9.
2016
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2 | BCL2L11, PRKAR1A
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| Cyclic-AMP-dependent protein kinase A regulates apoptosis by stabilizing the BH3-only protein Bim.
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| Moujalled D, Weston R, Anderton H, Ninnis R, Goel P, Coley A, Huang DC, Wu L, Strasser A, Puthalakath H.
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| EMBO Rep 12(1):77-83. Epub 2010 Dec 10.
2011
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3 | PATZ1, PRKAR1A
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| Interaction of the regulatory subunit of the cAMP-dependent protein kinase with PATZ1 (ZNF278).
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| Yang WL, Ravatn R, Kudoh K, Alabanza L, Chin KV.
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| Biochem Biophys Res Commun 391(3):1318-23. Epub 2009 Dec 22.
2010
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4 | PRKAR1A
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| Inactivation of the Carney complex gene 1 (protein kinase A regulatory subunit 1A) inhibits SMAD3 expression and TGF beta-stimulated apoptosis in adrenocortical cells.
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| Ragazzon B, Cazabat L, Rizk-Rabin M, Assie G, Groussin L, Fierrard H, Perlemoine K, Martinez A, Bertherat J.
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| Cancer Res 69(18):7278-84. Epub 2009 Sep 8.PMID: 19738044 2009
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5 | CNC1, PRKAR1A
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| Large deletions of the PRKAR1A gene in Carney complex.
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| 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.
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| Clin Cancer Res 14(2):388-95.
2008
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6 | CNC1, DEL17QD, DEL17QO, PRKAR1A
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| A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
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| Blyth M, Huang S, Maloney V, Crolla JA, Karen Temple I.
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| Eur J Med Genet 51(6):672-8. Epub 2008 Sep 19. 2008
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7 | CNC1, PRKAR1A
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| Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A.
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| Sasaki A, Horikawa Y, Suwa T, Enya M, Kawachi S, Takeda J.
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| Mol Genet Metab 95(3):182-7. Epub 2008 Aug 29.
2008
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8 | CNC1, PRKAR1A
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| Heterogeneity of skin manifestations in patients with Carney complex.
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| Mateus C, Palangié A, Franck N, Groussin L, Bertagna X, Avril MF, Bertherat J, Dupin N.
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| J Am Acad Dermatol 59(5):801-10. Epub 2008 Sep 19.
2008
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9 | PRKAR1A, RARA
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| The PRKAR1A gene is fused to RARA in a new variant acute promyelocytic leukemia.
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| Catalano A, Dawson MA, Somana K, Opat S, Schwarer A, Campbell LJ, Iland H.
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| Blood 110(12):4073-6. Epub 2007 Aug 21.PMID: 17712046 2007
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10 | DTNB, PRKAR1A
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| Association of dystrobrevin and regulatory subunit of protein kinase A: a new role for dystrobrevin as a scaffold for signaling proteins.
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| Ceccarini M, Grasso M, Veroni C, Gambara G, Artegiani B, Macchia G, Ramoni C, Torreri P, Mallozzi C, Petrucci TC, Macioce P.
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| J Mol Biol 371(5):1174-87. Epub 2007 Jun 14.
2007
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11 | CNC1, PRKAR1A
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| A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
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| 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.
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| J Clin Endocrinol Metab 91(5):1943-9. Epub 2006 Feb 7. 2006
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12 | PRKAR1A
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| Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas.
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| Perdigao PF, Stergiopoulos SG, De Marco L, Matyakhina L, Boikos SA, Gomez RS, Pimenta FJ, Stratakis CA.
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| Genes Chromosomes Cancer 44(2):204-11. 2005
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13 | CNC1, PRKAR1A
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| A Japanese case of familial cardiac myxoma associated with a mutation of the PRKAR1alpha gene.
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| Kojima S, Sumiyoshi M, Watanabe Y, Suwa S, Matsumoto M, Nakata Y, Daida H.
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| Intern Med 44(6):607-10. 2005
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14 | PRKAR1A, CNC1
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| PRKAR1A gene mutation in patients with cardiac myxoma.
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| Mabuchi T, Shimizu M, Ino H, Yamguchi M, Terai H, Fujino N, Nagata M, Sakata K, Inoue M, Yoneda T, Mabuchi H.
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| Int J Cardiol 102(2):273-7. 2005
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15 | PRKAR1A, CNC1
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| A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus.
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| 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.
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| J Med Genet 41(8):596-600. 2004
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16 | CNC1, PRKAR1A
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| Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
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| Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT.
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| Proc Natl Acad Sci U S A 101(39):14222-7. Epub 2004 Sep 15. 2004
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17 | PRKAR1A, CNC1
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| 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.
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| 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.
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| J Med Genet 41(12):923-31. 2004
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18 | PRKAR1A
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| Clinical and molecular genetics of Carney complex
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| Sandrini F, Stratakis C.
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| Mol Genet Metab 78(2):83-92. 2003
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19 | CNC1, PRKAR1A
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| Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.
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| Robinson-White A, Hundley TR, Shiferaw M, Bertherat J, Sandrini F, Stratakis CA.
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| Hum Mol Genet 12(13):1475-84. 2003
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20 | PRKAR1A, CNC1
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| Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!
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| Stergiopoulos SG, Stratakis CA.
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| FEBS Lett 546(1):59-64. Review. 2003
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21 | PRKAR1A
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| Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer.
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| Sandrini F, Matyakhina L, Sarlis NJ, Kirschner LS, Farmakidis C, Gimm O, Stratakis CA.
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| Genes Chromosomes Cancer 35(2):182-92. 2002
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22 | CNC1, PRKAR1A
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| Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD.
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| Groussin L, Kirschner LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA, Bertherat J.
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| Am J Hum Genet 71(6):1433-42. 2002
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23 | CNC1, CNC2, PRKAR1A
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| 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).
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| Stratakis CA.
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| Ann N Y Acad Sci 968:3-21. Review.
2002
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24 | CNC1, PRKAR1A
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| Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the carney complex.
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| Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA.
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| Nat Genet 26(1):89-92. No abstract available. 2000
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25 | PECAM1, PRKAR1A
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| PECAM1, MPO and PRKAR1A at chromosome 17q21-q24 and susceptibility for multiple sclerosis in Sweden and Sardinia.
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| Nelissen I, Fiten P, Vandenbroeck K, Hillert J, Olsson T, Marrosu MG, Opdenakker G.
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| J Neuroimmunol 108(1-2):153-9. 2000
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26 | PRKAR1A
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| Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.
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| Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA.
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| Hum Mol Genet 9(20):3037-46. 2000
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27 | PRKAR1A
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| Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex.
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| Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, Montgomery K, Kucherlapati R, Morton CC, Basson CT.
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| J Clin Invest 106(5):R31-8. 2000
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28 | STAT6, PRKAR1A
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| Specific gene expression in pancreatic beta-cells: cloning and characterization of differentially expressed genes.
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| Arava Y, et al.
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| Diabetes 48(3):552-6. 1999
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29 | PRKAR1A
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| The human gene for the regulatory subunit RI alpha of cyclic adenosine 3', 5'-monophosphate-dependent protein kinase: two distinct promoters provide differential regulation of alternately spliced messenger ribonucleic acids.
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| Solberg R, Sandberg M, Natarajan V, Torjesen PA, Hansson V, Jahnsen T, Tasken K.
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| Endocrinology 138(1):169-81. 1997
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30 | PRKAR1A, RET, PTC2
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| A t(10;17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma.
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| Sozzi G, et al.
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| Genes Chromosomes Cancer 9 : 244-250. 1994
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31 | PRKAR1A
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| The tissue-specific extinguisher locus TSE1 encodes a regulatory subunit of cAMP-dependent protein kinase.
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| Boshart M, et al.
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| Cell 66 : 849-859. 1991
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32 | PRKAR1A
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| Subtractive hybridization cloning of a tissue-specific extinguisher : TSE1 encodes a regulatory subunit of protein kinase A.
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| Jones KW, et al.
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| Cell 66 : 861-872. 1991
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33 | PRKAR1A, PRKAR2B
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| Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis.
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| Scambler PJ, et al.
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| Am J Hum Genet 41 : 925-932. 1987
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34 | PRKAR1A
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| Molecular cloning, cDNA structure and deduced amino acid sequence for a type I regulatory subunit of cAMP-dependent protein kinase from human testis.
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| Sandberg M, Tasken K, Oyen O, Hansson V, Jahnsen T.
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| Biochem Biophys Res Commun 149(3):939-45. 1987
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35 | PRKAR1A
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| Chromosomal assignment and trans regulation of the tyrosine aminotransferase structural gene in hepatoma hybrid cells.
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| Peterson TC, et al.
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| Mol Cell Biol 5 : 2491-2494. 1985
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36 | PRKAR1A
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| A genetic analysis of extinction : trans-dominant loci regulate expression of liver-specific traits in hepatoma hybrid cells.
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| Killary AM, et al.
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| Cell 38 : 523-534. 1984
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