Gene Review:
PRKAR1A - protein kinase, cAMP-dependent, regulatory...
Homo sapiens
Synonyms:
ACRDYS1, ADOHR, CAR, CNC, CNC1, ...
- Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Robinson-White, A., Hundley, T.R., Shiferaw, M., Bertherat, J., Sandrini, F., Stratakis, C.A. Hum. Mol. Genet. (2003)
- 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, J.P., Bertagna, X., Bertherat, J. J. Clin. Endocrinol. Metab. (2002)
- Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas. Perdigão, P.F., Stergiopoulos, S.G., De Marco, L., Matyakhina, L., Boikos, S.A., Gomez, R.S., Pimenta, F.J., Stratakis, C.A. Genes Chromosomes Cancer (2005)
- Expression of the two alternatively spliced PRKAR1A RNAs in human endocrine glands. Peverelli, E., Mantovani, G., Bondioni, S., Pellegrini, C., Bosari, S., Lania, A.G., Beck-Peccoz, P., Spada, A. Mol. Cell. Endocrinol. (2005)
- 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, C.A. Ann. N. Y. Acad. Sci. (2002)
- 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, J.A., Bertherat, J., Stratakis, C.A. Clin. Cancer Res. (2008)
- Genomic mapping of chromosomal region 2p15-p21 (D2S378-D2S391): integration of Genemap'98 within a framework of yeast and bacterial artificial chromosomes. Kirschner, L.S., Taymans, S.E., Pack, S., Pak, E., Pike, B.L., Chandrasekharappa, S.C., Zhuang, Z., Stratakis, C.A. Genomics (1999)
- Effects of insertion depth of cochlear implant electrodes upon speech perception. Yukawa, K., Cohen, L., Blamey, P., Pyman, B., Tungvachirakul, V., O'Leary, S. Audiol. Neurootol. (2004)
- 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, K.J., Stein, E., Levine, E., Delimpasi, G., Hsiao, H.P., Keil, M., Heyerdahl, S., Matyakhina, L., Libè, R., Fratticci, A., Kirschner, L.S., Cramer, K., Gaillard, R.C., Bertagna, X., Carney, J.A., Bertherat, J., Bossis, I., Stratakis, C.A. Nat. Genet. (2006)
- Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Kirschner, L.S., Carney, J.A., Pack, S.D., Taymans, S.E., Giatzakis, C., Cho, Y.S., Cho-Chung, Y.S., Stratakis, C.A. Nat. Genet. (2000)
- PRKAR1A mutations in primary pigmented nodular adrenocortical disease. Cazabat, L., Ragazzon, B., Groussin, L., Bertherat, J. Pituitary (2006)
- Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. Stratakis, C.A. Horm. Res. (2000)
- A six month mitotane course induced sustained correction of hypercortisolism in a young woman with PPNAD and Carney complex. Cignarelli, M., Picca, G., Campo, M., Margaglione, M., Marino, A., Logoluso, F., Giorgino, F. J. Endocrinol. Invest. (2005)
- Clinical experience of CNC-milled titanium frameworks supported by implants in the edentulous jaw: a 3-year interim report. Ortorp, A., Jemt, T. Clinical implant dentistry and related research. (2002)
- Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Veugelers, M., Wilkes, D., Burton, K., McDermott, D.A., Song, Y., Goldstein, M.M., La Perle, K., Vaughan, C.J., O'Hagan, A., Bennett, K.R., Meyer, B.J., Legius, E., Karttunen, M., Norio, R., Kaariainen, H., Lavyne, M., Neau, J.P., Richter, G., Kirali, K., Farnsworth, A., Stapleton, K., Morelli, P., Takanashi, Y., Bamforth, J.S., Eitelberger, F., Noszian, I., Manfroi, W., Powers, J., Mochizuki, Y., Imai, T., Ko, G.T., Driscoll, D.A., Goldmuntz, E., Edelberg, J.M., Collins, A., Eccles, D., Irvine, A.D., McKnight, G.S., Basson, C.T. Proc. Natl. Acad. Sci. U.S.A. (2004)
- Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Kirschner, L.S., Sandrini, F., Monbo, J., Lin, J.P., Carney, J.A., Stratakis, C.A. Hum. Mol. Genet. (2000)
- Minireview: PRKAR1A: normal and abnormal functions. Bossis, I., Stratakis, C.A. Endocrinology (2004)
- 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. Groussin, L., Kirschner, L.S., Vincent-Dejean, C., Perlemoine, K., Jullian, E., Delemer, B., Zacharieva, S., Pignatelli, D., Carney, J.A., Luton, J.P., Bertagna, X., Stratakis, C.A., Bertherat, J. Am. J. Hum. Genet. (2002)
- Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours. Kaltsas, G.A., Kola, B., Borboli, N., Morris, D.G., Gueorguiev, M., Swords, F.M., Czirják, S., Kirschner, L.S., Stratakis, C.A., Korbonits, M., Grossman, A.B. Clin. Endocrinol. (Oxf) (2002)
- PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex. Robinson-White, A., Meoli, E., Stergiopoulos, S., Horvath, A., Boikos, S., Bossis, I., Stratakis, C.A. J. Clin. Endocrinol. Metab. (2006)
- Primary pigmented nodular adrenocortical disease: paradoxical responses of cortisol secretion to dexamethasone occur in vitro and are associated with increased expression of the glucocorticoid receptor. Bourdeau, I., Lacroix, A., Schürch, W., Caron, P., Antakly, T., Stratakis, C.A. J. Clin. Endocrinol. Metab. (2003)
- Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues. Liu, J., Matyakhina, L., Han, Z., Sandrini, F., Bei, T., Stratakis, C.A., Papadopoulos, V. FASEB J. (2003)
- Disruption of protein kinase a regulation causes immortalization and dysregulation of D-type cyclins. Nadella, K.S., Kirschner, L.S. Cancer Res. (2005)
- PECAM1, MPO and PRKAR1A at chromosome 17q21-q24 and susceptibility for multiple sclerosis in Sweden and Sardinia. Nelissen, I., Fiten, P., Vandenbroeck, K., Hillert, J., Olsson, T., Marrosu, M.G., Opdenakker, G. J. Neuroimmunol. (2000)
- Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity. Bertherat, J., Groussin, L., Sandrini, F., Matyakhina, L., Bei, T., Stergiopoulos, S., Papageorgiou, T., Bourdeau, I., Kirschner, L.S., Vincent-Dejean, C., Perlemoine, K., Gicquel, C., Bertagna, X., Stratakis, C.A. Cancer Res. (2003)
- Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. Stratakis, C.A., Papageorgiou, T., Premkumar, A., Pack, S., Kirschner, L.S., Taymans, S.E., Zhuang, Z., Oelkers, W.H., Carney, J.A. J. Clin. Endocrinol. Metab. (2000)