Research Topics
Genomes and Genes
| C A StratakisSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case reportBrian P Brooks
National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
BMC Ophthalmol 4:7. 2004..Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13...
The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcriptionC A Stratakis
Section on Pediatric Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 83:1348-57. 1998....- Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1C A Stratakis
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institute of Health, Bethesda, MD 20892 1862, USA
J Clin Endocrinol Metab 85:4776-80. 2000..This patient represents the earliest presentation of any morbid endocrine tumor in MEN 1. A better understanding of early onset MEN 1 disease is needed to formulate recommendations for early MEN 1 genetic testing... - Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancyC A Stratakis
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1862, USA
J Clin Endocrinol Metab 85:4359-66. 2000.... - Clinical and genetic analysis of primary bilateral adrenal diseases (micro- and macronodular disease) leading to Cushing syndromeC A Stratakis
Unit on Genetics and Endocrinology, Section on Pediatric Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892 1862, USA
Horm Metab Res 30:456-63. 1998..Identification of the molecular defects responsible for bilateral adrenocortical disorders is expected to shed light on many aspects of early adrenal gland differentiation and tumorigenesis... - Skin manifestations of Cushing disease in children and adolescents before and after the resolution of hypercortisolemiaC A Stratakis
Section on Pediatric Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1862, USA
Pediatr Dermatol 15:253-8. 1998..With the exception of striae, cutaneous effects of endogenous hypercortisolism completely heal within the first year after surgical cure of the disease... - Applications of genomic medicine in endocrinology and post-genomic endocrine researchConstantine A Stratakis
Heritable Disorders Branch, Developmental Endocrinology Branch, DEB, National Institute of Child Health and Human Development NICHD, National Institutes of Health NIH, Bethesda, MD 20892, USA
Hormones (Athens) 4:38-44. 2005..In the post-genomic, translational Medicine, Endocrinology once again could help us to understand cellular regulation and pathophysiology and to design new treatments... - Dysregulation of the hypothalamic-pituitary-adrenal axis in short children with and without growth hormone deficiencyC A Stratakis
Unit of Genetics and Endocrinology, DEB, NICHD, NIH, Bethesda, MD 20892 1862, USA
J Pediatr Endocrinol Metab 13:1095-100. 2000..In at least some short children with IGD, abnormal regulation of the hypothalamic-pituitary-adrenal axis may be present... - Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D1C A Stratakis
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1862, USA
J Clin Endocrinol Metab 85:3396-401. 2000.... - A concise genetic and clinical guide to multiple endocrine neoplasias and related syndromesC A Stratakis
Unit of Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1862, USA
J Pediatr Endocrinol Metab 13:457-65. 2000..This review considers a wider, more inclusive view of the MEN syndromes, summarizes their clinical features and presents the newest information on their molecular elucidation... - Genetics of adrenocortical tumors: Carney complexC A Stratakis
Unit on Genetics and Endocrinology, DEB, NICHD, NIH, Building 10, Room 10N262, 10 Center Dr MSC1862, Bethesda, Maryland 20892 1862, USA
Ann Endocrinol (Paris) 62:180-4. 2001..The present report reviews the genetics of adrenocortical cancer first, followed by what is known today about the genetics of PPNAD and/or CNC... - Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromesC A Stratakis
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1862, USA
J Endocrinol Invest 24:370-83. 2001.... - 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)Constantine A Stratakis
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Ann N Y Acad Sci 968:3-21. 2002..An excess of type-II PKA activity was present in affected tissues, which may be responsible for the apparent tumorigenicity of PRKAR1A mutations in endocrine tissues... - Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginosesC A Stratakis
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1862, USA
Horm Res 54:334-43. 2000.... 
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2C A Stratakis
Section on Pediatric Endocrinology, National Institute of Child Health and Human Development, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
J Clin Invest 97:699-705. 1996..This region has exhibited cytogenetic aberrations in atrial myxomas associated with the complex, and has been characterized by microsatellite instability in human neoplasias...- Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex)C A Stratakis
Section on Pediatric Endocrinology, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1862, USA
J Clin Endocrinol Metab 81:3607-14. 1996..This gene(s) appears to be involved in the regulation of genomic stability of dividing cells, in particular the structure of telomeres in replicating chromosomes and/or the function of the mitotic apparatus... - Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasiaC A Stratakis
Section on Pediatric Endocrinology, National Institute of Child Health and Human Development NICHD, Bethesda, Maryland, 20892, USA
Biochem Mol Med 59:112-7. 1996..The S671P substitution is novel, but located in the same region with the other reported COL10A1 mutations, confirming type X collagen as the locus for this disease... - Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex)C A Stratakis
Unit on Genetics and Endocrinology, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 82:2037-43. 1997..Ultrasonography is useful in the detection and clinical follow-up of these lesions... - Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluationC A Stratakis
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1862, USA
J Clin Endocrinol Metab 86:4041-6. 2001..In light of the recent identification of mutations in the PRKAR1A gene, an estimate of penetrance and recommendations for genetic screening are provided... - Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complexL S Kirschner
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, Maryland, USA
Nat Genet 26:89-92. 2000..We conclude that germline mutations in PRKAR1A, an apparent tumour-suppressor gene, are responsible for the CNC phenotype in a subset of patients with this disease... - 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 lesionsK J Griffin
Section on Genetics and Endocrinology, Developmental Endocrinology Branch DEB, National Institute of Child Health and Human Development, Bethesda, MD 20892 1103, USA
J Med Genet 41:923-31. 2004.... - Genomic mapping of chromosomal region 2p15-p21 (D2S378-D2S391): integration of Genemap'98 within a framework of yeast and bacterial artificial chromosomesL S Kirschner
Developmental Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892, USA
Genomics 62:21-33. 1999..This map provides an integration of genetic, radiation hybrid, and physical mapping information for the region corresponding to cytogenetic bands 2p15-p21 and is expected to facilitate the identification of disease genes from the area... - Chromosome 2 (2p16) abnormalities in Carney complex tumoursL Matyakhina
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1862, USA
J Med Genet 40:268-77. 2003..Both thyroid and adrenal tumours constitute part of CNC indicating that the responsible gene(s) in this area may indeed be involved in both inherited and sporadic endocrine tumour pathogenesis and/or progression... - A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locusI Bossis
Section on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
J Med Genet 41:596-600. 2004..Allelic loss may have occurred in a single precursor cell type that differentiated and clonally expanded into several phenotypes. Epithelial-to-mesenchymal transition may also occur in CNC-associated pleiomorphic pituitary adenomas... - The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromesC A Stratakis
Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics PDEGEN, Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD, National Institute of Health NIH, Bethesda, MD 20892, USA
Clin Genet 78:457-63. 2010..Thus, germline AIP or MEN1 gene mutations are frequent among pediatric patients with GH- or PRL-secreting PA but are significantly rarer in pediatric CD; PRKAR1A mutations are not present in PA outside of Carney complex... - Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor geneM Karl
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
J Clin Endocrinol Metab 76:683-9. 1993..The presence of the null allele was apparently compensated for by increased cortisol production at the expense of concurrent hyperandrogenism... - Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complexL S Kirschner
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, Building 10, Room 10N262, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, MSC1862, Bethesda, MD 20892, USA
Hum Mol Genet 9:3037-46. 2000..CNC is the first human disease recognized to be caused by mutations of the PKA holoenzyme, a critical component of cellular signaling... - Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the populationAnelia Horvath
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Resources, NIH, Bethesda, MD 20892, USA
Cancer Res 66:11571-5. 2006..We speculate that PDE11A genetic defects may be associated with adrenal pathology in a wider than previously suspected clinical spectrum that includes asymptomatic individuals... - Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropinF Sandrini
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 86:5433-7. 2001.... - A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)A R Lafferty
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Building 10, Room 10N262, 10 Center Drive, MSC1862, Bethesda, Maryland 20892 1862, USA
J Med Genet 37:831-5. 2000..This is the first identified locus for FH-II; its molecular elucidation may provide further insight into the aetiology of primary aldosteronism... - Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genesEirini I Bimpaki
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD, NIH, Building 10, CRC East Laboratories, Room 1 3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
Eur J Endocrinol 161:153-61. 2009..Little is known about cAMP signaling in adrenal lesions associated with ACTH-independent Cushing syndrome (AICS) that do not harbor mutations in known genes... - P450arom gene expression in peripheral blood lymphocytes: identification of a cryptic splice site for exon-1 after Epstein-Barr virus transformationA Vottero
Unit on Genetics of Endocrinology, Section on Pediatric Endocrinology, DEB, NICHD, NIH, Bethesda, MD 20892, USA
J Steroid Biochem Mol Biol 64:245-50. 1998..We conclude that (i) the P450arom mRNA is present in human PBLs and (ii) EBV transformation of the latter leads to novel alternative splicing of the 5' end of this gene... - Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical diseaseC A Stratakis
National Institutes of Health, Bethesda, Maryland 20892 1862, USA
Ann Intern Med 131:585-91. 1999..Primary pigmented nodular adrenocortical disease causes the Cushing syndrome in children and young adults and is most frequently associated with the Carney complex... - Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesionsS A Boikos
Section on Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
Horm Metab Res 40:347-53. 2008..These preliminary data suggest that these two molecules are perhaps regulated in a reverse manner in their control of cAMP signaling in adrenocortical tissues... - Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasiaAnathea C Powell
Tumor Angiogenesis Section, Surgery Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Surgery 143:750-8. 2008..We reviewed our experience with micronodular adrenal hyperplasia (MAH), its pigmented variant primary pigmented nodular adrenocortical disease (PPNAD), and the association with Carney's complex (CNC) to better characterize these disorders... - Structure of the gene coding for calcineurin B (PPP3R1) and mapping to D2S358-D2S1778 (chromosomal region 2p15)C A Stratakis
Unit on Genetics and Endocrinology, Section on Pediatric Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892 1862, USA
DNA Seq 9:227-30. 1998..The present study reports the intron-exon structure of the PPP3R1 gene with the proximal intronic sequences, its genetic mapping to D25358-D251778 on chromosome 2p15, and its exclusion in a genetic disorder mapped proximal to this locus... 
Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1AS L Heyerdahl
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Horm Metab Res 40:391-7. 2008....- Lack of linkage between the corticotropin-releasing hormone (CRH) gene and bipolar affective disorderC A Stratakis
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Mol Psychiatry 2:483-5. 1997.... - Radiation hybrid mapping of chromosomal region 2p15-p16: integration of expressed and polymorphic sequences maps at the Carney complex (CNC) and Doyne honeycomb retinal dystrophy (DHRD) lociS E Taymans
Section on Pediatric Endocrinology, National Institute of Child Health and Human Development, Bethesda, Maryland, 20892 1862, USA
Genomics 56:344-9. 1999..Construction of the 2p15-p16 RH map is critical for identifying the genes responsible for CNC and DHRD, as well as for the molecular elucidation of a chromosomal region that is frequently rearranged in tumors... - Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?Daniel F Gunther
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development NIH, Building 10, Room 10N262, 10 Center Drive MSC 1862, Bethesda, MD 20892 1862, USA
J Clin Endocrinol Metab 89:3173-82. 2004.... - Carney complex: pathology and molecular geneticsSosipatros A Boikos
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
Neuroendocrinology 83:189-99. 2006..CNC is the first human disease caused by mutations of one of the subunits of the PKA holoenzyme, a critical component of numerous cellular signaling systems. This has wide implications for cAMP involvement in endocrine tumorigenesis... - The growth hormone receptor (GHR) polymorphism in growth-retarded children with Cushing disease: lack of association with growth and measures of the somatotropic axisL Drori-Herishanu
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics PDEGEN, National Institutes of Health NIH, Bethesda, MD 20892, USA
Horm Metab Res 42:194-7. 2010..The presence of a well-studied and common GHR polymorphism does not appear to be responsible for the variability of growth delay observed in patients with Cushing disease... - Diagnostic tests for children who are referred for the investigation of Cushing syndromeDalia L Batista
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1862, USA
Pediatrics 120:e575-86. 2007..The purpose of this study was to identify the tests that most reliably and efficiently diagnose pituitary or adrenal tumors in a large cohort of pediatric patients with Cushing syndrome... - Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2Audrey Robinson-White
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, NICHD, Bethesda, MD 20892, USA
Hum Mol Genet 12:1475-84. 2003..Reversal of PKA-mediated inhibition of this MAPK pathway in CNC cells may contribute to tumorigenesis in this condition... - Protein kinase A-independent inhibition of proliferation and induction of apoptosis in human thyroid cancer cells by 8-Cl-adenosineAudrey J Robinson-White
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 93:1020-9. 2008..We have investigated the antiproliferative effects of 8-Cl-cAMP and 8-CL-ADO on human thyroid cancer cells and determined PKA's involvement... - Ectopic thymus presenting as a thyroid nodule in a patient with the Carney complexNickolas Courcoutsakis
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Thyroid 19:293-6. 2009..682 C > T (Arg228X) pathogenic PRKAR1A mutation. Hemithyroidectomy for a Hürthle cell adenoma led to the confirmation of distinct intrathyroidal ectopic thymic tissue. Thymic abnormalities have not been previously reported in CNC... - Carney complex: the first 20 yearsSosipatros A Boikos
Section on Endocrinology and Genetics SEGEN, Developmental Endocrinology Branch DEB, National Institute of Child Health and Human Development NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
Curr Opin Oncol 19:24-9. 2007..The purpose of this review is to comment on the current findings on Carney complex, a dominantly inherited disease and a unique multiple endocrine neoplasia syndrome... - Protein kinase A and tumorigenicity: the example of micronodular adrenocortical hyperplasia and Carney complexLawrence S Kirschner
Unit on Genetics and Endocrinology, DEB/NICHD/NIH, Bethesda, Maryland, USA
Endocr Res 28:749-50. 2002 - Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediatorsIsabelle Bourdeau
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Oncogene 23:1575-85. 2004..Several candidate genes that may be responsible for AIMAH formation and/or progression were also identified, suggesting pathways that affect the cell cycle, adhesion and transcription as possible mediators of adrenocortical hyperplasia... - Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistanceD M Hurley
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
J Clin Invest 87:680-6. 1991..These results suggest that glucocorticoid resistance in this family is due to a point mutation in the steroid-binding domain of the glucocorticoid receptor... - Androgen receptor-mediated hypersensitivity to androgens in women with nonhyperandrogenic hirsutism: skewing of X-chromosome inactivationA Vottero
Section of Pediatric Endocrinology, DEB, NICHD, NIH, Bethesda, Maryland 20892 1862, USA
J Clin Endocrinol Metab 84:1091-5. 1999..Further studies need to be performed to investigate whether this phenomenon is present in androgen-sensitive tissues in these patients... - Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3S E Taymans
Unit on Genetics and Endocrinology, SPE, DEB, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1862, USA
J Clin Endocrinol Metab 83:1033-6. 1998..3. The BACs containing the gene and a high-resolution map of the CYP11B2 locus are useful for genetic studies of hypertension and other endocrine disorders... - Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasiaM B Lodish
Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Pediatric Endocrinology Inter Institute Training Program, National Institutes of Health, Bethesda, MD, USA
Horm Metab Res 42:682-8. 2010..We conclude that in a patient with a Russell-Silver syndrome-like phenotype, Sertoli cell hyperplasia was associated with somatic trisomy 8, increased aromatization, and gonadotropin-independent precocious puberty... - Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromesC A Stratakis
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development NICHD, National Institutes of Health NIH, Building 10, Room 10N262, Bethesda, MD 20892 1862, USA
Front Biosci 5:D353-66. 2000.... - The hypoplastic inferior petrosal sinus: a potential source of false-negative results in petrosal sampling for Cushing's diseaseJ L Doppman
Diagnostic Radiology Department, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland 20892 1182, USA
J Clin Endocrinol Metab 84:533-40. 1999..We conclude that the presence of a unilateral hypoplastic or plexiform inferior petrosal sinus can result in anomalous drainage from the pituitary gland that may lead to false-negative sampling results in patients with Cushing's disease... - Solid tumors associated with multiple endocrine neoplasiasMadson Q Almeida
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, CRC, Room I 3330, 10 Center Dr, MSC 1103, Bethesda, MD 20892, USA
Cancer Genet Cytogenet 203:30-6. 2010..The Carney complex is yet another form of MEN that is characterized by skin tumors and pigmented lesions, myxomas, schwannomas, and various endocrine neoplasias... - Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumorsElise Meoli
Section on Endocrinology and Genetics, Program in Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
Cancer Res 68:3133-41. 2008.... - Bilateral testicular adrenal rests after bilateral adrenalectomies in a cushingoid patient with von Hippel-Lindau diseaseD Champ Weeks
Urologic Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA
Urology 63:981-2. 2004.... - Minireview: PRKAR1A: normal and abnormal functionsIoannis Bossis
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1862, USA
Endocrinology 145:5452-8. 2004.... - A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasiaAnelia Horvath
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, US National Institute of Child Health and Human Development, US National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 38:794-800. 2006.... - Cyclic AMP-dependent signaling aberrations in macronodular adrenal diseaseIsabelle Bourdeau
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892 1862, USA
Ann N Y Acad Sci 968:240-55. 2002..Thus, the study of ectopic receptor expression and cAMP-dependent PKA activity in AIMAH may have wider implications for adrenal and, indeed, endocrine tumorigenesis... - Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancerFabiano Sandrini
Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1862, USA
Genes Chromosomes Cancer 35:182-92. 2002..We conclude that PRKAR1A, the most abundant regulatory subunit of protein kinase A and a principal cyclic AMP-signaling modulator, acts as a tumor-suppressor gene in sporadic thyroid cancer. Published 2002 Wiley-Liss, Inc... - PRKAR1A gene analysis and protein kinase A activity in endometrial tumorsA Tsigginou
First Department of Obstetrics and Gynecology, Athens University Medical School, Alexandra Hospital, 115 28 Athens, Greece
Endocr Relat Cancer 19:457-62. 2012..01). There are significant PKA enzymatic abnormalities in tumors of the endometrium compared with surrounding normal tissue; as these were not due to PRKAR1A mutations, other mechanisms affecting PKA function ought to be explored... - Carney complex and the familial lentiginosis syndromes: link to inherited neoplasias and developmental disorders, and genetic lociG P Chrousos
Section on Pediatric Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1862, USA
J Intern Med 243:573-9. 1998.... - Multiple endocrine neoplasia--introductionS J Marx
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD, USA
J Intern Med 257:2-5. 2005..They report new developments in clinical practices and in basic understandings about this rapidly advancing field... - Adrenocortical tumors, primary pigmented adrenocortical disease (PPNAD)/Carney complex, and other bilateral hyperplasias: the NIH studiesC A Stratakis
Pediatric Endocrinology, National Institute of Child Health and Human Development, Bethesda, Maryland 20892 1862, USA
Horm Metab Res 39:467-73. 2007..This recently led to the identification of phosphodiesterase 11A ( PDE11A) mutations as a low-penetrance predisposing factor to adrenocortical hyperplasias of both the pigmented and non-pigmented variants... - An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and proteinL Drori-Herishanu
Section of Endocrinology and Genetics, Program on Developmental Endocrinology Genetics PDEGEN, NIH, Bethesda, Maryland 20892, USA
Horm Metab Res 41:630-4. 2009.... - Nelson's syndrome associated with a somatic frame shift mutation in the glucocorticoid receptor geneM Karl
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 81:124-9. 1996..We suggest that a somatic GR defect might have played a pathophysiological role in the tumorigenesis of the corticotropinoma bearing this mutation... - Protein kinase A and its role in human neoplasia: the Carney complex paradigmI Bossis
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1862, USA
Endocr Relat Cancer 11:265-80. 2004..In this report, we review briefly the genetics of CNC and focus on the involvement of PRKAR1A in human tumorigenesis in an effort to reconcile the often diametrically opposite reports on R1alpha... - Adrenal cancerC A Stratakis
Department of Pediatrics, Georgetown University School of Medicine, Washington, DC, USA
Endocrinol Metab Clin North Am 29:15-25, vii-viii. 2000..This article reviews the recent advances in molecular understanding, clinical diagnosis, and treatment of adrenal cancer... - Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumorsAnelia Horvath
Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, 10 Center Drive, CRC, Room 1 3330, Bethesda, MD 20892, USA
Cancer Res 69:5301-6. 2009..In conclusion, we report that PDE11A-inactivating sequence variants may modify the risk of familial and bilateral TGCT... - RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancerMaya B Lodish
Pediatric Endocrinology and Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Building 10, CRC, Room 1 3330, 10 Center Dr, MSC1103, Bethesda, MD 20892, USA
Expert Rev Anticancer Ther 8:625-32. 2008..This review will provide a brief overview of MTC and the associated RET oncogenic mutations, and will summarize the therapies designed to strategically interfere with the pathologic activation of the RET oncogene... - Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cellsRodrigo T Calado
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1202, USA
Blood 114:2236-43. 2009..These findings have potential implications for the choice of current androgenic compounds and the development of future agents for clinical use... - Blood pressure in pediatric patients with Cushing syndromeMaya B Lodish
Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics, National Institute of Child Health and Human Development, NIH, Building 10, CRC, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 94:2002-8. 2009..Hypertension (HTN) has been reported in up to 60% of children with Cushing syndrome (CS), but its course, side effects, and potential differences among various causes of CS have not been adequately studied... - Rare and unusual endocrine cancer syndromes with mutated genesMaya B Lodish
Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Pediatric Endocrinology Inter Institute Training Program, National Institutes of Health, Bethesda, MD, USA
Semin Oncol 37:680-90. 2010..Recognition of the familial syndrome associated with a particular patient's endocrine tumor has important implications in terms of prognosis, screening of family members, and screening for associated conditions... - 8-Cl-adenosine inhibits proliferation and causes apoptosis in B-lymphocytes via protein kinase A-dependent and independent effects: implications for treatment of Carney complex-associated tumorsAudrey J Robinson-White
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 94:4061-9. 2009..PKA controls cell proliferation in many cell types. The cAMP analogue 8-Cl-adenosine (8-Cl-ADO) is thought to inhibit cancer cell proliferation... - An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunitsMaria Nesterova
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 93:565-71. 2008..Inactivating mutations of PRKAR1A, the regulatory subunit type 1A (RIalpha) of protein kinase A (PKA), are associated with tumor formation... - Genetics of adrenal tumors associated with Cushing's syndrome: a new classification for bilateral adrenocortical hyperplasiasConstantine A Stratakis
Heritable Disorders Branch, National Institute of Child Health and Human Development NICHD, National Institutes for Health NIH, Bethesda, MD 20892, USA
Nat Clin Pract Endocrinol Metab 3:748-57. 2007..This is a timely Review because of recent advances in the clinical and molecular understanding of these diseases... - Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemiaMargarita Raygada
Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Developmental Genetics, Bethesda, MD 20892 1831, USA
Pediatr Blood Cancer 54:173-5. 2010..The patient underwent bone marrow transplantation and is currently in remission. Children with concurrent cutaneous café-au-lait and JXG lesions should be evaluated and monitored closely for the possible development of JMML... - Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesisSosipatros A Boikos
Section on Endocrinology and Genetics SEGEN, Developmental Endocrinology Branch DEB, National Institute of Child Health and Human Development NICHD, National Institues of Health, Bethesda, MD 20892 1103, USA
Hum Mol Genet 16:R80-7. 2007..At the end, we attempt a unifying hypothesis for pituitary tumorigenesis, taking into account data that are also discussed elsewhere in this issue... - Effects of Cushing disease on bone mineral density in a pediatric populationMaya B Lodish
Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
J Pediatr 156:1001-5. 2010..To evaluate bone mineral density (BMD) in children with Cushing disease before and after transphenoidal surgery (TSS)... - 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 signalingMadson Q Almeida
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice KennedyShriver, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Hum Mol Genet 19:1387-98. 2010.... - An unusual presentation of pediatric Cushing disease: recurrent corticotropinoma of the posterior pituitary lobeMonalisa F Azevedo
Section on Endocrinology and Genetics, Program on Developmental Endocrinology Genetics PDEGEN, Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD, National Institutes of Health NIH, Bethesda, MD 20892, USA
J Pediatr Endocrinol Metab 23:607-12. 2010..Posterior lobe pituitary adenomas are very rare and often hard to diagnose and treat; this is the first case of such a tumor causing recurrent Cushing's disease in a child... - Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromesMaya B Lodish
Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Paediatric Endocrinology Inter Institute Training Program, National Institutes of Health, Bethesda, MD 20892, USA
Best Pract Res Clin Endocrinol Metab 24:439-49. 2010..The discovery of mTOR inhibitors has led to a possible new therapeutic modality for patients with endocrine tumours as part of these familial syndromes... - Reversible posterior encephalopathy syndrome associated with micronodular adrenocortical disease and Cushing syndromeMaya Lodish
Section on Endocrinology and Genetics SEGEN and Pediatric Endocrinology Program, Program on Developmental Endocrinology and Genetics PDEGEN, National Institute of Child Health and Human Development NICHD, Building 10 CRC East, Room 1 3330, 10 Center Dr MSC 1103, Bethesda, MD 20892, USA
Eur J Pediatr 169:125-6. 2010.... - Short stature in partially corrected X-linked severe combined immunodeficiency--suboptimal response to growth hormoneSuk See De Ravin
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases NIAID, Bethesda, MD 20892, USA
J Pediatr Endocrinol Metab 21:1057-63. 2008..Previous reports have implicated gamma c in growth hormone (GH) receptor signaling, thus severe growth failure in XSCID may be related to the underlying gamma c defect... - Quality of life in children and adolescents 1-year after cure of Cushing syndrome: a prospective studyMargaret F Keil
Office of the Chief, Program on Developmental Endocrinology and Genetics PDEGEN, National Institute of Child Health and Human Development NICHD, Bethesda, MD 20892, USA
Clin Endocrinol (Oxf) 71:326-33. 2009..Cushing syndrome (CS) in children is associated with symptoms that may impair health related quality of life (HRQL). There are no prospective reports of HRQL in children with CS... - New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumorsConstantine A Stratakis
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics PDEGEN, Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD, Bethesda, MD 20892, USA
Mol Cell Endocrinol 300:152-7. 2009.... - Body image in adolescents with disorders of steroidogenesisCong Ning
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
J Pediatr Endocrinol Metab 21:771-80. 2008..Little is known about body image in children with endocrine conditions. We evaluated body image in children with congenital adrenal hyperplasia (CAH), familial male precocious puberty (FMPP), and Cushing's syndrome (CS)... - Severe obesity confounds the interpretation of low-dose dexamethasone test combined with the administration of ovine corticotrophin-releasing hormone in childhood Cushing syndromeDalia L Batista
Section on Endocrinology and Genetics, Program in Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 93:4323-30. 2008..Suppression of cortisol secretion with a low-dose dexamethasone (Dex) followed by the administration of ovine CRH (Dex-oCRH) is used in the evaluation of adults with a pseudo-Cushing syndrome state (PCSS) vs. Cushing syndrome (CS)... - Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin- independent Cushing syndrome)Constantine A Stratakis
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Endocr Dev 13:117-32. 2008..Adrenalectomy is the preferred mode of treatment for all adrenocortical causes of CS... - Endocrine side effects of broad-acting kinase inhibitorsMaya B Lodish
Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver NICHD Pediatric Endocrinology Inter Institute Training Program, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
Endocr Relat Cancer 17:R233-44. 2010..This review summarizes the most recent data on the endocrine side effects of TKIs... - 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 cortexAnelia Horvath
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
Eur J Hum Genet 16:1245-53. 2008..We conclude that PDE8B is another PDE gene linked to iMAD; it is a candidate causative gene for other adrenocortical lesions linked to the cAMP signaling pathway and possibly for tumors in other tissues... - Depletion of type IA regulatory subunit (RIalpha) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiencyManos Mavrakis
Cell Biology and Metabolism Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Hum Mol Genet 15:2962-71. 2006..These data suggest that RIalpha deficiency decreases autophagy by the activation of mTOR, providing a molecular basis to autophagic deficiency in PPNAD... - Cortisol and growth hormone: clinical implications of a complex, dynamic relationshipConstantine A Stratakis
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
Pediatr Endocrinol Rev 3:333-8. 2006..The message is clear: although excess cortisol inhibits growth and the skeleton, normal cortisol levels are part of the mix that ensures both normal growth hormone secretion and bone accumulation in childhood... - Protein kinase A and human diseaseConstantine A Stratakis
Cellular Biochemistry Section, BRL, CCR, NCI, NIH, Bldg 10, Rm 10N262, Bethesda, MD 20892-1862, USA
Trends Endocrinol Metab 13:50-2. 2002 - Serial analysis of gene expression in adrenocortical hyperplasia caused by a germline PRKAR1A mutationAnelia Horvath
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development/NIH, Building 10, Clinical Research Center, Room I-1330, 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103, USA
J Clin Endocrinol Metab 91:584-96. 2006..CONCLUSIONS: This study was the first of its kind for adrenal tissue and provides important information about the adrenal transcriptome and aberrant signaling in an inherited form of adrenocortical hyperplasia... - Children experience cognitive decline despite reversal of brain atrophy one year after resolution of Cushing syndromeDeborah P Merke
Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
J Clin Endocrinol Metab 90:2531-6. 2005..Despite rapid reversibility of cerebral atrophy, children experience a significant decline in cognitive function 1 yr after correction of hypercortisolism... - Pituitary pathology in Carney complex patientsSotirios G Stergiopoulos
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1862, USA
Pituitary 7:73-82. 2004.... - A mouse model for Carney complexKurt J Griffin
Section on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892-1862, USA
Endocr Res 30:903-11. 2004..This mouse provides a useful tool for the investigation of cAMP, RIalpha, and PKA functions and confirms Prkar1a's critical role in tumorigenesis in endocrine and other tissues... - Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumorsKurt J Griffin
Section on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
Cancer Res 64:8811-5. 2004..This mouse provides a novel, useful tool for the investigation of cyclic AMP, RIalpha, and PKA functions and confirms the critical role of Prkar1a in tumorigenesis in endocrine and other tissues...