Published in Clin Endocrinol (Oxf) on April 28, 2008
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum Mutat (2010) 1.81
Carney complex: an update. Eur J Endocrinol (2015) 1.04
cAMP/PKA signaling defects in tumors: genetics and tissue-specific pluripotential cell-derived lesions in human and mouse. Mol Cell Endocrinol (2013) 0.97
E pluribus unum? The main protein kinase A catalytic subunit (PRKACA), a likely oncogene, and cortisol-producing tumors. J Clin Endocrinol Metab (2014) 0.84
MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics. Neuroendocrinology (2015) 0.80
Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex. Eur J Pediatr (2009) 0.80
In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex. J Clin Endocrinol Metab (2011) 0.79
Protein kinase A defects and cortisol-producing adrenal tumors. Curr Opin Endocrinol Diabetes Obes (2015) 0.79
Signs and genetics of rare cancer syndromes with gastroenterological features. World J Gastroenterol (2015) 0.75
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet (2000) 6.26
The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) (1985) 4.64
Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab (2001) 4.42
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum Mol Genet (2000) 2.73
A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues. Cancer Res (2005) 1.94
Cyclic nucleotide-dependent protein kinases. Pharmacol Ther (1991) 1.94
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest (2000) 1.72
Carney complex (CNC). Orphanet J Rare Dis (2006) 1.64
The tissue-specific extinguisher locus TSE1 encodes a regulatory subunit of cAMP-dependent protein kinase. Cell (1991) 1.59
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci U S A (2004) 1.56
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. J Med Genet (2004) 1.46
Protein kinase A and its role in human neoplasia: the Carney complex paradigm. Endocr Relat Cancer (2004) 1.38
Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors. Cancer Res (2004) 1.36
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab (2006) 1.35
Carney complex: the first 20 years. Curr Opin Oncol (2007) 1.31
Subtractive hybridization cloning of a tissue-specific extinguisher: TSE1 encodes a regulatory subunit of protein kinase A. Cell (1991) 1.28
Carney complex: pathology and molecular genetics. Neuroendocrinology (2006) 1.18
Clinical phenotypes and molecular genetic mechanisms of Carney complex. Lancet Oncol (2005) 1.14
Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease! FEBS Lett (2003) 1.03
Fibrolamellar hepatocellular carcinoma occurring 5 years after hepatocellular adenoma in a 14-year-old girl: a case report with comparative genomic hybridization analysis. Arch Pathol Lab Med (2004) 0.86
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet (2006) 2.86
Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med (2012) 2.74
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A (2010) 2.68
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet (2007) 2.64
Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. J Clin Oncol (2011) 2.49
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab (2009) 2.23
Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells. Blood (2009) 2.12
Diagnostic tests for children who are referred for the investigation of Cushing syndrome. Pediatrics (2007) 2.07
SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples. Am J Hum Genet (2008) 2.00
A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues. Cancer Res (2005) 1.94
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N Engl J Med (2014) 1.89
Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med (2008) 1.89
Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve (2012) 1.88
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet (2002) 1.84
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. Cancer Res (2003) 1.82
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum Mutat (2010) 1.81
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med (2013) 1.79
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res (2006) 1.72
Familial gastrointestinal stromal tumors and germ-line mutations. N Engl J Med (2007) 1.70
Consequences of adrenal venous sampling in primary hyperaldosteronism and predictors of unilateral adrenal disease. J Am Coll Surg (2010) 1.70
DNA methylation profiling identifies global methylation differences and markers of adrenocortical tumors. J Clin Endocrinol Metab (2012) 1.67
Minireview: PRKAR1A: normal and abnormal functions. Endocrinology (2004) 1.64
Endocrine abnormalities in patients with Fanconi anemia. J Clin Endocrinol Metab (2007) 1.63
Outcome of using the histological pseudocapsule as a surgical capsule in Cushing disease. J Neurosurg (2009) 1.61
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. J Clin Endocrinol Metab (2007) 1.57
Bone mineral density and fractures in Turner syndrome. Am J Med (2003) 1.51
Depletion of type IA regulatory subunit (RIalpha) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency. Hum Mol Genet (2006) 1.47
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. Mod Pathol (2010) 1.46
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. Eur J Hum Genet (2008) 1.44
Spoiled gradient recalled acquisition in the steady state technique is superior to conventional postcontrast spin echo technique for magnetic resonance imaging detection of adrenocorticotropin-secreting pituitary tumors. J Clin Endocrinol Metab (2003) 1.44
mTOR kinase and the regulatory subunit of protein kinase A (PRKAR1A) spatially and functionally interact during autophagosome maturation. Autophagy (2007) 1.43
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. Am J Surg Pathol (2010) 1.41
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. J Clin Endocrinol Metab (2003) 1.41
Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors. J Clin Endocrinol Metab (2009) 1.41
Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors. Cancer Res (2008) 1.39
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. Hum Mutat (2008) 1.39
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? J Clin Endocrinol Metab (2004) 1.38
PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex. J Clin Endocrinol Metab (2006) 1.36
Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors. Cancer Res (2004) 1.36
Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res (2008) 1.36
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab (2006) 1.35
Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes. Best Pract Res Clin Endocrinol Metab (2010) 1.35
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Res (2009) 1.35
Selective loss of MEG3 expression and intergenic differentially methylated region hypermethylation in the MEG3/DLK1 locus in human clinically nonfunctioning pituitary adenomas. J Clin Endocrinol Metab (2008) 1.33
Ectopic ACTH and CRH Co-secreting Tumor Localized by 68Ga-DOTA-TATE PET/CT. Clin Nucl Med (2015) 1.31
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clin Cancer Res (2008) 1.31
Carney complex: the first 20 years. Curr Opin Oncol (2007) 1.31
MicroRNA signature of primary pigmented nodular adrenocortical disease: clinical correlations and regulation of Wnt signaling. Cancer Res (2009) 1.27
Snapin mediates incretin action and augments glucose-dependent insulin secretion. Cell Metab (2011) 1.27
Serial analysis of gene expression in adrenocortical hyperplasia caused by a germline PRKAR1A mutation. J Clin Endocrinol Metab (2005) 1.25
Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators. Oncogene (2004) 1.22
A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension. J Clin Endocrinol Metab (2012) 1.20
Functional imaging of SDHx-related head and neck paragangliomas: comparison of 18F-fluorodihydroxyphenylalanine, 18F-fluorodopamine, 18F-fluoro-2-deoxy-D-glucose PET, 123I-metaiodobenzylguanidine scintigraphy, and 111In-pentetreotide scintigraphy. J Clin Endocrinol Metab (2011) 1.19
Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer. Genes Chromosomes Cancer (2002) 1.18
Carney complex: pathology and molecular genetics. Neuroendocrinology (2006) 1.18
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. J Clin Endocrinol Metab (2005) 1.18
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmol (2004) 1.18
The glucose area under the profiles obtained with continuous glucose monitoring system relationships with HbA(lc) in pediatric type 1 diabetic patients. Diabetes Care (2002) 1.17
Blood pressure in pediatric patients with Cushing syndrome. J Clin Endocrinol Metab (2009) 1.16
Children experience cognitive decline despite reversal of brain atrophy one year after resolution of Cushing syndrome. J Clin Endocrinol Metab (2005) 1.15
MicroRNA signature in massive macronodular adrenocortical disease and implications for adrenocortical tumourigenesis. Clin Endocrinol (Oxf) (2009) 1.15
Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Hum Mol Genet (2003) 1.15
The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits. J Clin Endocrinol Metab (2009) 1.15
Clinical and molecular genetics of Carney complex. Best Pract Res Clin Endocrinol Metab (2010) 1.14
A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. J Clin Endocrinol Metab (2011) 1.14
The effects of SOM230 on cell proliferation and adrenocorticotropin secretion in human corticotroph pituitary adenomas. J Clin Endocrinol Metab (2006) 1.12
The differential diagnosis of familial lentiginosis syndromes. Fam Cancer (2011) 1.12
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. Clin Endocrinol (Oxf) (2007) 1.11
Postoperative testing to predict recurrent Cushing disease in children. J Clin Endocrinol Metab (2009) 1.11
Carney complex and other conditions associated with micronodular adrenal hyperplasias. Best Pract Res Clin Endocrinol Metab (2010) 1.11
Integrated genomic analysis of nodular tissue in macronodular adrenocortical hyperplasia: progression of tumorigenesis in a disorder associated with multiple benign lesions. J Clin Endocrinol Metab (2011) 1.11
RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer. Expert Rev Anticancer Ther (2008) 1.10
Noonan-like syndrome with loose anagen hair: a new syndrome? Am J Med Genet A (2003) 1.10
Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice. PLoS Genet (2010) 1.09
PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes. Cancer Res (2006) 1.09
How does cAMP/protein kinase A signaling lead to tumors in the adrenal cortex and other tissues? Mol Cell Endocrinol (2010) 1.09
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. J Clin Endocrinol Metab (2010) 1.09
Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence. Am J Surg Pathol (2006) 1.08
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A (2006) 1.08
Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease. Ann N Y Acad Sci (2002) 1.08
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. J Clin Endocrinol Metab (2009) 1.08
An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits. J Clin Endocrinol Metab (2007) 1.07
Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. J Clin Endocrinol Metab (2014) 1.07
17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia. J Clin Endocrinol Metab (2006) 1.07
Pituitary tumors in childhood: update of diagnosis, treatment and molecular genetics. Expert Rev Neurother (2008) 1.06
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. Hum Mol Genet (2010) 1.05
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). Clin Endocrinol (Oxf) (2008) 1.05
Solid tumors associated with multiple endocrine neoplasias. Cancer Genet Cytogenet (2010) 1.04
Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone. Proc Natl Acad Sci U S A (2010) 1.04
Detection of adrenocorticotropin-secreting pituitary adenomas by magnetic resonance imaging in children and adolescents with cushing disease. J Clin Endocrinol Metab (2005) 1.03
Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease! FEBS Lett (2003) 1.03
Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome. Am J Surg Pathol (2011) 1.03
Recovery of the hypothalamic-pituitary-adrenal axis in children and adolescents after surgical cure of Cushing's disease. J Clin Endocrinol Metab (2012) 1.03
Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia. Pediatr Blood Cancer (2010) 1.02
Cushing's syndrome due to a pituitary corticotropinoma in a child with tuberous sclerosis: an association or a coincidence? Clin Endocrinol (Oxf) (2007) 1.02
Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes. Eur J Endocrinol (2009) 1.02
Protein kinase A regulates caspase-1 via Ets-1 in bone stromal cell-derived lesions: a link between cyclic AMP and pro-inflammatory pathways in osteoblast progenitors. Hum Mol Genet (2010) 1.02