Anelia Horvath

Anelia Horvath

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Anelia Horvath

Publications by authors named "Anelia Horvath"

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Dysregulated metabolic pathways in age-related macular degeneration.

Sci Rep 2020 Feb 12;10(1):2464. Epub 2020 Feb 12.

Department of Ophthalmology, Georgetown University Medical Center, Washington, DC, 20057, USA.

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http://dx.doi.org/10.1038/s41598-020-59244-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016007PMC
February 2020

Estimating the Allele-Specific Expression of SNVs From 10× Genomics Single-Cell RNA-Sequencing Data.

Genes (Basel) 2020 Feb 25;11(3). Epub 2020 Feb 25.

McCormick Genomics and Proteomics Center, School of Medicine and Health Sciences, The George Washington University, 20037 Washington, DC, USA.

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http://dx.doi.org/10.3390/genes11030240DOI Listing
February 2020

Systematic pan-cancer analysis of somatic allele frequency.

Sci Rep 2018 05 16;8(1):7735. Epub 2018 May 16.

Department of Pharmacology and Physiology, School of Medicine and Health Sciences, The George Washington University, Washington, DC, 20037, USA.

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http://dx.doi.org/10.1038/s41598-018-25462-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956099PMC
May 2018

Overexpressed somatic alleles are enriched in functional elements in Breast Cancer.

Sci Rep 2017 08 15;7(1):8287. Epub 2017 Aug 15.

Department of Pharmacology and Physiology, School of Medicine and Health Sciences, The George Washington University, Washington, DC, 20037, USA.

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http://dx.doi.org/10.1038/s41598-017-08416-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557904PMC
August 2017

More on Co-Occurrence of COMT and BRCA1/2 Variants in a Population.

Authors:
Anelia Horvath

N Engl J Med 2017 08;377(8):795-6

George Washington University, Washington, DC

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http://dx.doi.org/10.1056/NEJMc1708425DOI Listing
August 2017

Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer.

Nat Commun 2017 06 30;8:15921. Epub 2017 Jun 30.

Department of Pharmacology and Physiology, School of Medicine and Health Sciences, The George Washington University, Washington, District Of Columbia 20037, USA.

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http://dx.doi.org/10.1038/ncomms15921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497057PMC
June 2017

Co-Occurrence of COMT and BRCA1/2 Variants in a Population.

N Engl J Med 2017 05;376(21):2090-2091

George Washington University, Washington, DC

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http://dx.doi.org/10.1056/NEJMc1701592DOI Listing
May 2017

RNA2DNAlign: nucleotide resolution allele asymmetries through quantitative assessment of RNA and DNA paired sequencing data.

Nucleic Acids Res 2016 12 30;44(22):e161. Epub 2016 Aug 30.

McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine, The George Washington University, Washington, DC 20037, USA

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http://dx.doi.org/10.1093/nar/gkw757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159535PMC
December 2016

A cellular and molecular mosaic establishes growth and differentiation states for cranial sensory neurons.

Dev Biol 2016 07 15;415(2):228-241. Epub 2016 Mar 15.

Department of Pharmacology and Physiology, The George Washington University, School of Medicine and Health Sciences, Washington DC, USA; The GW Institute for Neuroscience, The George Washington University, School of Medicine and Health Sciences, Washington DC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2016.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091808PMC
July 2016

SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype.

J Invest Dermatol 2015 Dec 23;135(12):3192-3194. Epub 2015 Jul 23.

Department of Dermatology, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4648645PMC
December 2015

Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex.

J Clin Endocrinol Metab 2015 Oct 23;100(10):3660-7. Epub 2015 Jul 23.

Sections on Endocrinology and Genetics (E.L., A.H., C.T., A.A., A.S.K., C.A.S.) and Molecular Dysmorphology (C.A.W., F.D.P.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2015-2212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596036PMC
October 2015

Phosphodiesterase sequence variants may predispose to prostate cancer.

Endocr Relat Cancer 2015 Aug 15;22(4):519-30. Epub 2015 May 15.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USASchool of Health and BiosciencesPontifícia Universidade Católica do Paraná (PUCPR), Curitiba, PR 80215-901, BrazilDepartment of Pharmacology and PhysiologyGeorge Washington University, Washington, DC 20037, USALaboratory of Genomics and Molecular BiologyCIPEDepartment of PathologyA.C. Camargo Cancer Center, 01509-010 São Paulo, SP, BrazilDepartment of StatisticsGeorge Washington University, Washington, DC 20037, USA Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USASchool of Health and BiosciencesPontifícia Universidade Católica do Paraná (PUCPR), Curitiba, PR 80215-901, BrazilDepartment of Pharmacology and PhysiologyGeorge Washington University, Washington, DC 20037, USALaboratory of Genomics and Molecular BiologyCIPEDepartment of PathologyA.C. Camargo Cancer Center, 01509-010 São Paulo, SP, BrazilDepartment of StatisticsGeorge Washington University, Washington, DC 20037, USA

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http://dx.doi.org/10.1530/ERC-15-0134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499475PMC
August 2015

SNPlice: variants that modulate Intron retention from RNA-sequencing data.

Bioinformatics 2015 Apr 6;31(8):1191-8. Epub 2014 Dec 6.

McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA.

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http://dx.doi.org/10.1093/bioinformatics/btu804DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393518PMC
April 2015

Is IGSF1 involved in human pituitary tumor formation?

Endocr Relat Cancer 2015 Feb 19;22(1):47-54. Epub 2014 Dec 19.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USAGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba 80215, BrazilDepartment of Pharmacology and TherapeuticsMcGill University, Montréal, Québec, Canada H3G 1Y6Pediatric Endocrinology Inter-institute Training ProgramEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892, USAThe Liggins InstituteUniversity of Auckland, Auckland 1023, New ZealandTaranaki Base HospitalNew Plymouth 4310, New ZealandAuckland City Hospital & Greenlane Clinical CentreAuckland 1142, New ZealandDepartment of NeurosurgeryUniversity of Virginia Health Sciences Center, University of Virginia, Charlottesville, Virginia 22904, USASurgical Neurology BranchNational Institute for Neurological Diseases and Stroke (NINDS), National Institutes of Health, Bethesda, Maryland 20892, USA Departments ofEndocrinology and Metabolic DisordersPediatricsLeiden University Medical Center, Leiden 2333, The Netherlands Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USAGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba 80215, BrazilDepartment of Pharmacology and TherapeuticsMcGill University, Montréal, Québec, Canada H3G 1Y6Pediatric

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http://dx.doi.org/10.1530/ERC-14-0465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272759PMC
February 2015

Genomic insights into triple-negative and HER2-positive breast cancers using isogenic model systems.

PLoS One 2013 23;8(9):e74993. Epub 2013 Sep 23.

McCormick Genomic and Proteomics Center, School of Medicine and Health Sciences, the George Washington University, Washington, District of Columbia, United States of America ; Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, the George Washington University, Washington, District of Columbia, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074993PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781103PMC
August 2014

Clinical and molecular genetics of the phosphodiesterases (PDEs).

Endocr Rev 2014 Apr 5;35(2):195-233. Epub 2013 Dec 5.

Section on Endocrinology Genetics (M.F.A., F.R.F., E.B., A.H., I.L., R.B.d.A., C.A.S.), Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892; Section of Endocrinology (M.F.A.), University Hospital of Brasilia, Faculty of Medicine, University of Brasilia, Brasilia 70840-901, Brazil; Group for Advanced Molecular Investigation (F.R.F., R.B.d.A.), Graduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba 80215-901, Brazil; Cardiovascular Pulmonary Branch (F.A., V.M.), National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland 20892; and Pediatric Endocrinology Inter-Institute Training Program (C.A.S.), NICHD, NIH, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/er.2013-1053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963262PMC
April 2014

Identification of novel gene targets and functions of p21-activated kinase 1 during DNA damage by gene expression profiling.

PLoS One 2013 12;8(8):e66585. Epub 2013 Aug 12.

McCormick Genomic and Proteomics Center, The George Washington University, Washington, District of Columbia, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0066585PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3741304PMC
March 2014

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

J Clin Endocrinol Metab 2014 Jan 20;99(1):E183-8. Epub 2013 Dec 20.

Section on Endocrinology and Genetics (P.S., E.L., F.R.F., I.L., E.G., M.F.K., C.L., C.A.S.), Program on Developmental Endocrinology and Genetics and Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Department of Biochemistry and Molecular Medicine (A.H.), The George Washington University, Washington, D.C. 20037; Department of Molecular Medicine (A.V., A.F., O.Z.), University of Pavia, Pavia 27100, Italy; Division of Genetics and Endocrinology (A.D., I.A.H.), Boston Children's Hospital, Boston, Massachusetts; Regional Medical Genetics Center (P.J.M.), Queens University Belfast, Belfast BT9 7AB, United Kingdom; and Quest Diagnostics Nichols Institute (E.D.S., M.A.S., J.C.K., Z.D., P.M.), Chantilly, Virginia 20151.

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http://dx.doi.org/10.1210/jc.2013-3159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879675PMC
January 2014

Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.

J Clin Endocrinol Metab 2013 Aug 14;98(8):E1393-400. Epub 2013 Jun 14.

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.

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http://dx.doi.org/10.1210/jc.2012-2838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733859PMC
August 2013

Extraction of Molecular Features through Exome to Transcriptome Alignment.

J Metabolomics Syst Biol 2013 Aug;1(1)

Department of Biochemistry and Molecular Medicine, The George Washington University, Washington, District of Columbia 20037, USA.

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http://dx.doi.org/10.13188/2329-1583.1000002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003560PMC
August 2013

Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.

Clin Endocrinol (Oxf) 2012 Aug;77(2):195-9

Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program, both at Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1103, USA.

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http://dx.doi.org/10.1111/j.1365-2265.2012.04366.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3360985PMC
August 2012

Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.

J Pediatr Endocrinol Metab 2012 ;25(1-2):213-9

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 (NIH), Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1515/jpem.2011.371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590677PMC
May 2012

Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.

J Clin Endocrinol Metab 2012 Apr 18;97(4):E687-93. Epub 2012 Jan 18.

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 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2011-3000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319183PMC
April 2012

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

J Clin Endocrinol Metab 2012 Mar 14;97(3):E357-66. Epub 2011 Dec 14.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2011-1179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319210PMC
March 2012

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 2012 Mar 28;97(3):E496-502. Epub 2011 Dec 28.

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 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2011-2220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319211PMC
March 2012

Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment.

Curr Opin Pharmacol 2011 Dec 31;11(6):689-97. Epub 2011 Oct 31.

Section of Endocrinology and 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.

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http://dx.doi.org/10.1016/j.coph.2011.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727450PMC
December 2011

Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma.

J Clin Endocrinol Metab 2011 Nov 14;96(11):E1905-14. Epub 2011 Sep 14.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2011-1127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205896PMC
November 2011

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 Apr 20;96(4):E728-38. Epub 2011 Jan 20.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2010-2420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070257PMC
April 2011

Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.

J Clin Endocrinol Metab 2011 Jan 29;96(1):E135-40. Epub 2010 Sep 29.

Section of Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2010-1655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3038491PMC
January 2011

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Hum Mutat 2010 Apr;31(4):369-79

Section on Endocrinology and Genetics, Program in Developmental Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://doi.wiley.com/10.1002/humu.21178
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http://dx.doi.org/10.1002/humu.21178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936101PMC
April 2010

Basic molecular techniques for the detection of single nucleotide polymorphisms: genome-wide applications in search for endocrine tumor related genes.

Methods Mol Biol 2009 ;590:143-63

Section on Endocrinology & Genetics (SEGEN), Program on Developmental Endocrinology & Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/978-1-60327-378-7_9DOI Listing
January 2010

Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.

J Clin Endocrinol Metab 2010 Jan 13;95(1):338-42. Epub 2009 Nov 13.

Department of Endocrinology and Metabolism and Center for Human, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2009-0993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805491PMC
January 2010

ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma.

J Clin Endocrinol Metab 2010 Jan 13;95(1):18-24. Epub 2009 Nov 13.

Institut National de la Santé et de la Recherche Médicale, Unité 982/Equipe Associée 4310, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institut Fédératif de Recherches Multidisciplinaires sur les Peptides 23, University of Rouen, 76821 Mont-Saint-Aignan, France.

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http://dx.doi.org/10.1210/jc.2009-0881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805485PMC
January 2010

Carney complex and lentiginosis.

Pigment Cell Melanoma Res 2009 Oct 24;22(5):580-7. Epub 2009 Jul 24.

Program in Developmental Endocrinology & Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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http://doi.wiley.com/10.1111/j.1755-148X.2009.00613.x
Publisher Site
http://dx.doi.org/10.1111/j.1755-148X.2009.00613.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3136757PMC
October 2009

Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.

Cancer Res 2009 Jul 23;69(13):5301-6. Epub 2009 Jun 23.

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.

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http://dx.doi.org/10.1158/0008-5472.CAN-09-0884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2734464PMC
July 2009

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 Jun 17;94(6):2085-91. Epub 2009 Mar 17.

Institut National de la Santé et de la Recherche Médicale Unit 567, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut Cochin, Endocrinology, Metabolism and Cancer Department, Paris 75014, France.

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http://dx.doi.org/10.1210/jc.2008-2333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2690418PMC
June 2009

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 Oct 23;16(10):1245-53. Epub 2008 Apr 23.

Section on Endocrinology & Genetics, Program on Developmental Endocrinology & Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2008.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671148PMC
October 2008

Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).

Clin Endocrinol (Oxf) 2008 Sep 14;69(3):367-73. Epub 2008 Apr 14.

Division of Endocrinology, Department of Medicine, Centre hospitalier de l'Université de Montréal (CHUM) Hôtel-Dieu, Montreal, QC, Canada.

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http://dx.doi.org/10.1111/j.1365-2265.2008.03273.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3138207PMC
September 2008

Unraveling the molecular basis of micronodular adrenal hyperplasia.

Curr Opin Endocrinol Diabetes Obes 2008 Jun;15(3):227-33

Section on Endocrinology and Genetics, Program on Developmental Endocrinology & Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1862, USA.

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http://dx.doi.org/10.1097/MED.0b013e3282fe7416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671149PMC
June 2008

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.

Hum Mutat 2008 May;29(5):633-9

Section on Endocrinology & Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/humu.20688DOI Listing
May 2008

Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors.

Rev Endocr Metab Disord 2008 Mar;9(1):1-11

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 20892-1103, USA.

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http://link.springer.com/10.1007/s11154-007-9066-9
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http://dx.doi.org/10.1007/s11154-007-9066-9DOI Listing
March 2008

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 2008 Feb 4;93(2):565-71. Epub 2007 Dec 4.

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.

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http://dx.doi.org/10.1210/jc.2007-1902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2243228PMC
February 2008

Large deletions of the PRKAR1A gene in Carney complex.

Clin Cancer Res 2008 Jan;14(2):388-95

Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1158/1078-0432.CCR-07-1155DOI Listing
January 2008

Primary pigmented nodular adrenocortical disease and Cushing's syndrome.

Arq Bras Endocrinol Metabol 2007 Nov;51(8):1238-44

Section on Endocrinology & Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1862, USA.

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http://dx.doi.org/10.1590/s0004-27302007000800009DOI Listing
November 2007

Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A.

Growth Horm IGF Res 2007 Apr 5;17(2):113-21. Epub 2007 Feb 5.

Division of Pediatric Endocrinology, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Abramson Research Center, Philadelphia, PA 19104-4318, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10966374060015
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http://dx.doi.org/10.1016/j.ghir.2006.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577759PMC
April 2007

PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.

J Clin Endocrinol Metab 2006 Jun 28;91(6):2380-8. Epub 2006 Mar 28.

Section on Endocrinology and Genetics, and Pediatric Endocrinology Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2006-0188DOI Listing
June 2006

Serial analysis of gene expression in adrenocortical hyperplasia caused by a germline PRKAR1A mutation.

J Clin Endocrinol Metab 2006 Feb 8;91(2):584-96. Epub 2005 Nov 8.

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.

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http://dx.doi.org/10.1210/jc.2005-1301DOI Listing
February 2006

Balkan endemic nephropathy and genetic variants of glutathione S-transferases.

J Nephrol 2004 May-Jun;17(3):390-8

Department of Chemistry and Biochemistry, Medical University of Sofia, Bulgaria.

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October 2004

Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.

J Hum Genet 2004 10;49(4):173-176. Epub 2004 Mar 10.

Department of Chemistry and Biochemistry, Medical University of Sofia, 2 Zdrave Str., Sofia, 1431, Bulgaria.

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http://dx.doi.org/10.1007/s10038-004-0127-6DOI Listing
June 2004

Differential roles of 2, 6, and 8 carbon ceramides on the modulation of gap junctional communication and apoptosis during carcinogenesis.

Cancer Lett 2003 Feb;191(1):27-34

Department of Pediatrics and Human Development, Michigan State University, 243 Food Safety and Toxicology, East Lansing, MI 48824, USA.

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http://dx.doi.org/10.1016/s0304-3835(02)00620-1DOI Listing
February 2003

Five polymorphisms of the apolipoprotein B gene in healthy Bulgarians.

Hum Biol 2003 Feb;75(1):69-80

Department of Chemistry and Biochemistry, Medical University of Sofia, Bulgaria.

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http://dx.doi.org/10.1353/hub.2003.0022DOI Listing
February 2003

Determination of the epigenetic effects of ochratoxin in a human kidney and a rat liver epithelial cell line.

Toxicon 2002 Mar;40(3):273-82

Department of Chemistry and Biochemistry, Medical University of Sofia, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/s0041-0101(01)00219-7DOI Listing
March 2002