Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex

[1]  C. Stratakis,et al.  Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes. , 2000, Frontiers in bioscience : a journal and virtual library.

[2]  S. Bates,et al.  Extracellular protein kinase A as a cancer biomarker: its expression by tumor cells and reversal by a myristate-lacking Calpha and RIIbeta subunit overexpression. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[3]  D. Papanicolaou,et al.  Paradoxical Response to Dexamethasone in the Diagnosis of Primary Pigmented Nodular Adrenocortical Disease , 1999, Annals of Internal Medicine.

[4]  M. O’Donovan,et al.  Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. , 1999, Clinical chemistry.

[5]  B. Korf,et al.  Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. , 1998, Circulation.

[6]  J. Carney,et al.  Carney complex: diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas. , 1998, American journal of medical genetics.

[7]  L. Maquat,et al.  A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[8]  M. O’Donovan,et al.  Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. , 1998, Genomics.

[9]  I. Tomlinson,et al.  Journal of Clinical Endocrinology and Metabolism Printed in U.S.A. Copyright © 1998 by The Endocrine Society Carney Complex, Peutz-Jeghers Syndrome, Cowden Disease, and Bannayan-Zonana Syndrome Share Cutaneous and Endocrine Manifestations, But Not Genetic , 2022 .

[10]  R. Idzerda,et al.  Compensatory Regulation of RIα Protein Levels in Protein Kinase A Mutant Mice* , 1997, The Journal of Biological Chemistry.

[11]  C. Tsigos,et al.  Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex). , 1996, The Journal of clinical endocrinology and metabolism.

[12]  R. Idzerda,et al.  Genetically lean mice result from targeted disruption of the RIIβ subunit of protein kinase A , 1996, Nature.

[13]  E. Friedman,et al.  Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene , 1996, Human Genetics.

[14]  D. Papanicolaou,et al.  Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. , 1996, The Journal of clinical investigation.

[15]  J. Carney Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. , 1995, Seminars in dermatology.

[16]  G. McKnight,et al.  Mutations in the catalytic subunit of cAMP-dependent protein kinase result in unregulated biological activity. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[17]  M. Merino,et al.  Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. , 1991, The New England journal of medicine.

[18]  J. Carney,et al.  Ductal Adenoma of the Breast With Tubular Features: A Probable Component of the Complex of Myxomas, Spotty Pigmentation, Endocrine Overactivity, and Schwannomas , 1991, The American journal of surgical pathology.

[19]  D. Tautz Hypervariability of simple sequences as a general source for polymorphic DNA markers. , 1989, Nucleic acids research.

[20]  N. Fleischer,et al.  Adrenocortical micronodular dysplasia, cardiac myxomas, lentigines, and spindle cell tumors. Report of a kindred. , 1987, Archives of internal medicine.

[21]  J. Carney,et al.  Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity. , 1986, Mayo Clinic proceedings.

[22]  J. Corbin,et al.  Two classes of cAMP analogs which are selective for the two different cAMP-binding sites of type II protein kinase demonstrate synergism when added together to intact adipocytes. , 1984, The Journal of biological chemistry.

[23]  C. Joyner,et al.  Familial myxomas in four siblings. , 1976, The Journal of thoracic and cardiovascular surgery.

[24]  P. Greengard,et al.  Cyclic nucleotide-dependent protein kinases. V. Preparation and properties of adenosine 3',5'-monophosphate-dependent protein kinase from various bovine tissues. , 1970, Biochimica et biophysica acta.

[25]  P. Torjesen,et al.  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. , 1997, Endocrinology.

[26]  P. Torjesen,et al.  The Human Gene for the Regulatory Subunit RIα of Cyclic Adenosine 3',5'-Monophosphate-Dependent Protein Kinase: Two Distinct Promoters Provide Differential Regulation of Alternately Spliced Messenger Ribonucleic Acids1. , 1997, Endocrinology.

[27]  W. Young,et al.  Primary pigmented nodular adrenocortical disease and its associated conditions , 1992 .

[28]  J. Scott Cyclic nucleotide-dependent protein kinases. , 1991, Pharmacology & therapeutics.