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scReQTL: an approach to correlate SNVs to gene expression from individual scRNA-seq datasets.
Published in:
BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-020-07334-y
By:
- Liu, Hongyu;
- Prashant, N. M.;
- Spurr, Liam F.;
- Bousounis, Pavlos;
- Alomran, Nawaf;
- Ibeawuchi, Helen;
- Sein, Justin;
- Słowiński, Piotr;
- Tsaneva-Atanasova, Krasimira;
- Horvath, Anelia
Publication type:
Article
Evaluation of an angiotensin Type 1 receptor blocker on the reconsolidation of fear memory.
Published in:
Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01043-6
By:
- Swiercz, Adam P.;
- Iyer, Laxmi;
- Yu, Zhe;
- Edwards, Allison;
- Prashant, N. M.;
- Nguyen, Bryan N.;
- Horvath, Anelia;
- Marvar, Paul J.
Publication type:
Article
Prostate cancer cell-platelet bidirectional signaling promotes calcium mobilization, invasion and apoptotic resistance via distinct receptor-ligand pairs.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-29450-x
By:
- Garofano, Kaitlin;
- Rashid, Kameron;
- Smith, Michael;
- Brantner, Christine;
- Suwunnakorn, Sumanun;
- Diemert, David;
- Gordon, Olivia;
- Horvath, Anelia;
- Khan, Sikandar;
- Popratiloff, Anastas;
- Rhim, Johng;
- Sidahmed, Alfateh;
- Maggirwar, Sanjay B.;
- O'Brien, Travis J.;
- Perera, Minoli A.;
- Lee, Norman H.
Publication type:
Article
Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.
Published in:
Journal of Human Genetics, 2004, v. 49, n. 4, p. 173, doi. 10.1007/s10038-004-0127-6
By:
- Mihaylov, Vassil A.;
- Horvath, Anelia D.;
- Savov, Alexey S.;
- Kurshelova, Elina F.;
- Paskaleva, Ivanka D.;
- Goudev, Assen R.;
- Stoilov, Ivaylo R.;
- Ganev, Varban S.
Publication type:
Article
RNA2DNAlign: nucleotide resolution allele asymmetries through quantitative assessment of RNA and DNA paired sequencing data.
Published in:
Nucleic Acids Research, 2016, v. 44, n. 22, p. 1, doi. 10.1093/nar/gkw757
By:
- Movassagh, Mercedeh;
- Alomran, Nawaf;
- Mudvari, Prakriti;
- Dede, Merve;
- Dede, Cem;
- Kowsari, Kamran;
- Restrepo, Paula;
- Cauley, Edmund;
- Bahl, Sonali;
- Li, Muzi;
- Waterhouse, Wesley;
- Tsaneva-Atanasova, Krasimira;
- Edwards, Nathan;
- Horvath, Anelia
Publication type:
Article
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Published in:
Nature Genetics, 2006, v. 38, n. 7, p. 794, doi. 10.1038/ng1809
By:
- Horvath, Anelia;
- Boikos, Sosipatros;
- Giatzakis, Christoforos;
- Robinson-White, Audrey;
- Groussin, Lionel;
- Griffin, Kurt J.;
- Stein, Erica;
- Levine, Elizabeth;
- Delimpasi, Georgia;
- Hui Pin Hsiao;
- Keil, Meg;
- Heyerdahl, Sarah;
- Matyakhina, Ludmila;
- Libè, Rossella;
- Fratticci, Amato;
- Kirschner, Lawrence S.;
- Cramer, Kevin;
- Gaillard, Rolf C.;
- Bertagna, Xavier;
- Carney, J. Aidan
Publication type:
Article
Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex.
Published in:
2015
By:
- London, Edra;
- Wassif, Christopher A;
- Horvath, Anelia;
- Tatsi, Christina;
- Angelousi, Anna;
- Karageorgiadis, Alexander S;
- Porter, Forbes D;
- Stratakis, Constantine A
Publication type:
journal article
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
Published in:
2014
By:
- Salpea, Paraskevi;
- Horvath, Anelia;
- London, Edra;
- Faucz, Fabio R;
- Vetro, Annalisa;
- Levy, Isaac;
- Gourgari, Evgenia;
- Dauber, Andrew;
- Holm, Ingrid A;
- Morrison, Patrick J;
- Keil, Margaret F;
- Lyssikatos, Charalampos;
- Smith, Eric D;
- Sanidad, Marc A;
- Kelly, Joann C;
- Dai, Zunyan;
- Mowrey, Philip;
- Forlino, Antonella;
- Zuffardi, Orsetta;
- Stratakis, Constantine A
Publication type:
journal article
Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.
Published in:
2013
By:
- Azevedo, Monalisa F;
- Horvath, Anelia;
- Bornstein, Ethan R;
- Almeida, Madson Q;
- Xekouki, Paraskevi;
- Faucz, Fabio R;
- Gourgari, Evgenia;
- Nadella, Kiran;
- Remmers, Elaine F;
- Quezado, Martha;
- de Alexandre, Rodrigo Bertollo;
- Kratz, Christian P;
- Nesterova, Maria;
- Greene, Mark H;
- Stratakis, Constantine A
Publication type:
journal article
Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.
Published in:
2012
By:
- Vezzosi D;
- Libé R;
- Baudry C;
- Rizk-Rabin M;
- Horvath A;
- Levy I;
- René-Corail F;
- Ragazzon B;
- Stratakis CA;
- Vandecasteele G;
- Bertherat J;
- Vezzosi, Delphine;
- Libé, Rossella;
- Baudry, Camille;
- Rizk-Rabin, Marthe;
- Horvath, Anelia;
- Levy, Isaac;
- René-Corail, Fernande;
- Ragazzon, Bruno;
- Stratakis, Constantine A
Publication type:
journal article
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.
Published in:
2012
By:
- Almeida MQ;
- Azevedo MF;
- Xekouki P;
- Bimpaki EI;
- Horvath A;
- Collins MT;
- Karaviti LP;
- Jeha GS;
- Bhattacharyya N;
- Cheadle C;
- Watkins T;
- Bourdeau I;
- Nesterova M;
- Stratakis CA;
- Almeida, Madson Q;
- Azevedo, Monalisa F;
- Xekouki, Paraskevi;
- Bimpaki, Eirini I;
- Horvath, Anelia;
- Collins, Michael T
Publication type:
journal article
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.
Published in:
2012
By:
- Patronas Y;
- Horvath A;
- Greene E;
- Tsang K;
- Bimpaki E;
- Haran M;
- Nesterova M;
- Stratakis CA;
- Patronas, Yianna;
- Horvath, Anelia;
- Greene, Elizabeth;
- Tsang, Kitman;
- Bimpaki, Eirini;
- Haran, Michelle;
- Nesterova, Maria;
- Stratakis, Constantine A
Publication type:
journal article
A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.
Published in:
2012
By:
- Anselmo J;
- Medeiros S;
- Carneiro V;
- Greene E;
- Levy I;
- Nesterova M;
- Lyssikatos C;
- Horvath A;
- Carney JA;
- Stratakis CA;
- Anselmo, João;
- Medeiros, Sandra;
- Carneiro, Victor;
- Greene, Elizabeth;
- Levy, Isaac;
- Nesterova, Maria;
- Lyssikatos, Charalampos;
- Horvath, Anelia;
- Carney, J Aidan;
- Stratakis, Constantine A
Publication type:
journal article
Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma.
Published in:
2011
By:
- Farrell, William E;
- Azevedo, Monalisa F;
- Batista, Dalia L;
- Smith, Alastair;
- Bourdeau, Isabelle;
- Horvath, Anelia;
- Boguszewski, Margaret;
- Quezado, Martha;
- Stratakis, Constantine A
Publication type:
journal article
Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association.
Published in:
2011
By:
- Gaujoux, Sébastien;
- Tissier, Frédérique;
- Ragazzon, Bruno;
- Rebours, Vinciane;
- Saloustros, Emmanouil;
- Perlemoine, Karine;
- Vincent-Dejean, Caroline;
- Meurette, Guillaume;
- Cassagnau, Elisabeth;
- Dousset, Bertrand;
- Bertagna, Xavier;
- Horvath, Anelia;
- Terris, Benoit;
- Carney, J Aidan;
- Stratakis, Constantine A;
- Bertherat, Jérôme
Publication type:
journal article
Integrated genomic analysis of nodular tissue in macronodular adrenocortical hyperplasia: progression of tumorigenesis in a disorder associated with multiple benign lesions.
Published in:
2011
By:
- Almeida, Madson Q;
- Harran, Michelle;
- Bimpaki, Eirini I;
- Hsiao, Hui-Pin;
- Horvath, Anelia;
- Cheadle, Chris;
- Watkins, Tonya;
- Nesterova, Maria;
- Stratakis, Constantine A
Publication type:
journal article
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.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 1, p. E208, doi. 10.1210/jc.2010-1704
By:
- Libé, Rossella;
- Horvath, Anelia;
- Vezzosi, Delphine;
- Fratticci, Amato;
- Coste, Joel;
- Perlemoine, Karine;
- Ragazzon, Bruno;
- Guillaud-Bataille, Marine;
- Groussin, Lionel;
- Clauser, Eric;
- Raffin-Sanson, Marie-Laure;
- Siegel, Jennifer;
- Moran, Jason;
- Drori-Herishanu, Limor;
- Rueda Faucz, Fabio;
- Lodish, Maya;
- Nesterova, Maria;
- Bertagna, Xavier;
- Bertherat, Jerome;
- Stratakis, Constantine A.
Publication type:
Article
Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.
Published in:
2011
By:
- Faucz, Fabio Rueda;
- Horvath, Anelia;
- Rothenbuhler, Anya;
- Almeida, Madson Q;
- Libé, Rossella;
- Raffin-Sanson, Marie-Laure;
- Bertherat, Jerome;
- Carraro, Dirce Maria;
- Soares, Fernando Augusto;
- Molina, Gustavo de Campos;
- Campos, Antonio H;
- Alexandre, Rodrigo B;
- Bendhack, Marcelo Luiz;
- Nesterova, Maria;
- Stratakis, Constantine A
Publication type:
journal article
SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data.
Published in:
BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-07974-8
By:
- Prashant, N. M.;
- Alomran, Nawaf;
- Chen, Yu;
- Liu, Hongyu;
- Bousounis, Pavlos;
- Movassagh, Mercedeh;
- Edwards, Nathan;
- Horvath, Anelia
Publication type:
Article
Genomic Insights into Triple-Negative and HER2-Positive Breast Cancers Using Isogenic Model Systems.
Published in:
PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074993
By:
- Mudvari, Prakriti;
- Ohshiro, Kazufumi;
- Nair, Vasudha;
- Horvath, Anelia;
- Kumar, Rakesh
Publication type:
Article
Identification of Novel Gene Targets and Functions of p21-Activated Kinase 1 during DNA Damage by Gene Expression Profiling.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0066585
By:
- Motwani, Mona;
- Li, Da-Qiang;
- Horvath, Anelia;
- Kumar, Rakesh
Publication type:
Article
ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma.
Published in:
2010
By:
- Louiset, Estelle;
- Gobet, Françoise;
- Libé, Rossella;
- Horvath, Anelia;
- Renouf, Sylvie;
- Cariou, Juliette;
- Rothenbuhler, Anya;
- Bertherat, Jérôme;
- Clauser, Eric;
- Grise, Philippe;
- Stratakis, Constantine A;
- Kuhn, Jean-Marc;
- Lefebvre, Hervé
Publication type:
journal article
Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.
Published in:
2010
By:
- Pereira, Alberto M;
- Hes, Frederik J;
- Horvath, Anelia;
- Woortman, Sanne;
- Greene, Elizabeth;
- Bimpaki, Eirini;
- Alatsatianos, Anton;
- Boikos, Sosipatros;
- Smit, Johannes W;
- Romijn, Johannes A;
- Nesterova, Maria;
- Stratakis, Constantine A
Publication type:
journal article
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
Published in:
2009
By:
- Bertherat, Jérôme;
- Horvath, Anélia;
- Groussin, Lionel;
- Grabar, Sophie;
- Boikos, Sosipatros;
- Cazabat, Laure;
- Libe, Rosella;
- René-Corail, Fernande;
- Stergiopoulos, Sotirios;
- Bourdeau, Isabelle;
- Bei, Thalia;
- Clauser, Eric;
- Calender, Alain;
- Kirschner, Lawrence S;
- Bertagna, Xavier;
- Carney, J Aidan;
- Stratakis, Constantine A
Publication type:
journal article
An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits.
Published in:
2008
By:
- Nesterova, Maria;
- Bossis, Ioannis;
- Wen, Feng;
- Horvath, Anelia;
- Matyakhina, Ludmila;
- Stratakis, Constantine A
Publication type:
journal article
PRKAR1A Mutations and Protein Kinase A Interactions with Other Signaling Pathways in the Adrenal Cortex.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 6, p. 2380, doi. 10.1210/jc.2006-0188
By:
- Robinson-White, Audrey;
- Meoli, Elise;
- Stergiopoulos, Sotirios;
- Horvath, Anelia;
- Boikos, Sosipatros;
- Bossis, Ioannis;
- Stratakis, Constantine A.
Publication type:
Article
A PRKAR1A Mutation Associated with Primary Pigmented Nodular Adrenocortical Disease in 12 Kindreds.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 5, p. 1943, doi. 10.1210/jc.2005-2708
By:
- Groussin, Lionel;
- Horvath, Anelia;
- Jullian, Eric;
- Boikos, Sosipatros;
- Rene-Corail, Fernande;
- Lefebvre, Herve;
- Cephise-Velayoudom, Fritz-Line;
- Vantyghem, Marie-Christine;
- Chanson, Philippe;
- Conte-Devolx, Bernard;
- Lucas, Miguel;
- Gentil, Alfonso;
- Malchoff, Carl D.;
- Tissier, Frédérique;
- Carney, J. Aidan;
- Bertagna, Xavier;
- Stratakis, Constantine A.;
- Bertherat, Jérôme
Publication type:
Article
Serial Analysis of Gene Expression in Adrenocortical Hyperplasia Caused by a Germline PRKAR1A Mutation.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 2, p. 584, doi. 10.1210/jc.2005-1301
By:
- Horvath, Anelia;
- Mathyakina, Ludmila;
- Vong, Queenie;
- Baxendale, Vanessa;
- Pang, Alan L. Y.;
- Wai-Yee Chan;
- Stratakis, Constantine A.
Publication type:
Article
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.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1245, doi. 10.1038/ejhg.2008.85
By:
- Horvath, Anelia;
- Giatzakis, Christoforos;
- Tsang, Kitman;
- Greene, Elizabeth;
- Osorio, Paulo;
- Boikos, Sosipatros;
- Libè, Rossella;
- Patronas, Yianna;
- Robinson-White, Audrey;
- Remmers, Elaine;
- Bertherat, Jerôme;
- Nesterova, Maria;
- Stratakis, Constantine A.
Publication type:
Article
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.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 1/2, p. 213, doi. 10.1515/jpem.2011.371
By:
- Briassoulis, George;
- Horvath, Anelia;
- Christoforou, Paola;
- Lodish, Maya;
- Xekouki, Paraskevi;
- Quezado, Martha;
- Patronas, Nicholas;
- Keil, Meg F.;
- Stratakis, Constantine A.
Publication type:
Article
Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome.
Published in:
European Journal of Endocrinology, 2013, v. 167, n. 1, p. 67, doi. 10.1530/EJE-12-0594
By:
- Hofland, Johannes;
- de Herder, Wouter W.;
- Derks, Lieke;
- Hofland, Leo J.;
- van Koetsveld, Peter M.;
- de Krijger, Ronald R.;
- van Nederveen, Francien H.;
- Horvath, Anelia;
- Stratakis, Constantine A.;
- de Jong, Frank H.;
- Feelders, Richard A.
Publication type:
Article
Dysregulated metabolic pathways in age-related macular degeneration.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-59244-4
By:
- Zhang, Meng;
- Jiang, Nisi;
- Chu, Yi;
- Postnikova, Olga;
- Varghese, Rency;
- Horvath, Anelia;
- Cheema, Amrita K.;
- Golestaneh, Nady
Publication type:
Article
Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer.
Published in:
Nature Communications, 2017, v. 8, n. 6, p. 15921, doi. 10.1038/ncomms15921
By:
- Wang, Bi-Dar;
- Ceniccola, Kristin;
- Hwang, SuJin;
- Andrawis, Ramez;
- Horvath, Anelia;
- Freedman, Jennifer A.;
- Olender, Jacqueline;
- Knapp, Stefan;
- Ching, Travers;
- Garmire, Lana;
- Patel, Vyomesh;
- Garcia-Blanco, Mariano A.;
- Patierno, Steven R.;
- Lee, Norman H.
Publication type:
Article
SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype.
Published in:
Journal of Investigative Dermatology, 2015, v. 135, n. 12, p. 3192, doi. 10.1038/jid.2015.292
By:
- Shellman, Yiqun G;
- Lambert, Karoline A;
- Brauweiler, Anne;
- Fain, Pamela;
- Spritz, Richard A;
- Martini, Melanie;
- Janssen, Klaus-Peter;
- Box, Neil F;
- Terzian, Tamara;
- Rewers, Marian;
- Horvath, Anelia;
- Stratakis, Constantine A;
- Robinson, William A;
- Robinson, Steven E;
- Norris, David A;
- Artinger, Kristin B;
- Pacheco, Theresa R
Publication type:
Article
Differences in the Platelet mRNA Landscape Portend Racial Disparities in Platelet Function and Suggest Novel Therapeutic Targets.
Published in:
Clinical Pharmacology & Therapeutics, 2021, v. 110, n. 3, p. 702, doi. 10.1002/cpt.2363
By:
- Garofano, Kaitlin;
- Park, C. Sehwan;
- Alarcon, Cristina;
- Avitia, Juan;
- Barbour, April;
- Diemert, David;
- Fraser, Claire M.;
- Friedman, Paula N.;
- Horvath, Anelia;
- Rashid, Kameron;
- Shaazuddin, Mohammed;
- Sidahmed, Alfateh;
- O'Brien, Travis J.;
- Perera, Minoli A.;
- Lee, Norman H.
Publication type:
Article
Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 9, p. 1580, doi. 10.1093/hmg/ddaa067
By:
- Maynard, Thomas M;
- Horvath, Anelia;
- Bernot, James P;
- Karpinski, Beverly A;
- Tavares, Andre L P;
- Shah, Ankita;
- Zheng, Qianqian;
- Spurr, Liam;
- Olender, Jacqueline;
- Moody, Sally A;
- Fraser, Claire M;
- LaMantia, Anthony-S;
- Lee, Norman H
Publication type:
Article
Cell therapy using ex vivo reprogrammed macrophages enhances antitumor immune responses in melanoma.
Published in:
Journal of Experimental & Clinical Cancer Research (17569966), 2024, v. 43, n. 1, p. 1, doi. 10.1186/s13046-024-03182-w
By:
- Noonepalle, Satish kumar Reddy;
- Gracia-Hernandez, Maria;
- Aghdam, Nima;
- Berrigan, Michael;
- Coulibaly, Hawa;
- Li, Xintang;
- Zevallos-Delgado, Christian;
- Pletcher, Andrew;
- Weselman, Bryan;
- Palmer, Erica;
- Knox, Tessa;
- Sotomayor, Eduardo;
- Chiappinelli, Katherine B.;
- Wardrop, Duncan;
- Horvath, Anelia;
- Shook, Brett A.;
- Lee, Norman;
- Dritschilo, Anatoly;
- Fernandes, Rohan;
- Musunuri, Karthik
Publication type:
Article
Five Polymorphisms of the Apolipoprotein B Gene in Healthy Bulgarians.
Published in:
Human Biology, 2003, v. 75, n. 1, p. 69, doi. 10.1353/hub.2003.0022
By:
- Horvath, Anelia;
- Chorbov, Vesselin;
- Zaharova, Boriana;
- Ganev, Varban
Publication type:
Article
Novel Insights into Breast Cancer Genetic Variance through RNA Sequencing.
Published in:
Scientific Reports, 2013, p. 1, doi. 10.1038/srep02256
By:
- Horvath, Anelia;
- Pakala, Suresh Babu;
- Mudvari, Prakriti;
- Natha Reddy, Sirigiri Divijendra;
- Ohshiro, Kazufumi;
- Casimiro, Sandra;
- Pires, Ricardo;
- Fuqua, Suzanne A. W.;
- Toi, Masakazu;
- Costa, Luis;
- Nair, Sujit S.;
- Sukumar, Saraswati;
- Kumar, Rakesh
Publication type:
Article
Haplotype Analysis of the Promoter Region of Phosphodiesterase Type 8B (PDE8B) in Correlation with Inactivating PDE8B Mutation and the Serum Thyroid-Stimulating Hormone Levels.
Published in:
Thyroid, 2010, v. 20, n. 4, p. 363, doi. 10.1089/thy.2009.0260
By:
- Horvath, Anelia;
- Faucz, Fabio;
- Finkielstain, Gabriela P.;
- Nikita, Maria Eleni;
- Rothenbuhler, Anya;
- Almeida, Madson;
- Mericq, Veronica;
- Stratakis, Constantine A.
Publication type:
Article
Corrigendum: Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer.
Published in:
Nature Communications, 2017, v. 8, n. 9, p. 16161, doi. 10.1038/ncomms16161
By:
- Wang, Bi-Dar;
- Ceniccola, Kristin;
- Hwang, SuJin;
- Andrawis, Ramez;
- Horvath, Anelia;
- Freedman, Jennifer A.;
- Olender, Jacqueline;
- Knapp, Stefan;
- Ching, Travers;
- Garmire, Lana;
- Patel, Vyomesh;
- Garcia-Blanco, Mariano A.;
- Patierno, Steven R.;
- Lee, Norman H.
Publication type:
Article
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A ( PRKAR1A): an update.
Published in:
2010
By:
- Horvath, Anélia;
- Bertherat, Jérôme;
- Groussin, Lionel;
- Guillaud-Bataille, Marine;
- Tsang, Kitman;
- Cazabat, Laure;
- Libé, Rosella;
- Remmers, Elaine;
- René-Corail, Fernande;
- Faucz, Fabio Rueda;
- Clauser, Eric;
- Calender, Alain;
- Bertagna, Xavier;
- Carney, J. Aidan;
- Stratakis, Constantine A.
Publication type:
Other
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.
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Human Mutation, 2008, v. 29, n. 5, p. 633, doi. 10.1002/humu.20688
By:
- Greene, Elizabeth L.;
- Horvath, Anelia D.;
- Nesterova, Maria;
- Giatzakis, Christoforos;
- Bossis, Ioannis;
- Stratakis, Constantine A.
Publication type:
Article
Improved SNV Discovery in Barcode-Stratified scRNA-seq Alignments.
Published in:
Genes, 2021, v. 12, n. 10, p. 1558, doi. 10.3390/genes12101558
By:
- N. M., Prashant;
- Liu, Hongyu;
- Dillard, Christian;
- Ibeawuchi, Helen;
- Alsaeedy, Turkey;
- Chan, Hang;
- Horvath, Anelia Dafinova
Publication type:
Article
Identification and Characterization of Alternatively Spliced Transcript Isoforms of IRX4 in Prostate Cancer.
Published in:
Genes, 2021, v. 12, n. 5, p. 615, doi. 10.3390/genes12050615
By:
- Fernando, Achala;
- Liyanage, Chamikara;
- Moradi, Afshin;
- Janaththani, Panchadsaram;
- Batra, Jyotsna;
- Horvath, Anelia
Publication type:
Article
Estimating Copy-Number Proportions: The Comeback of Sanger Sequencing.
Published in:
Genes, 2021, v. 12, n. 2, p. 283, doi. 10.3390/genes12020283
By:
- Seroussi, Eyal;
- Horvath, Anelia D.
Publication type:
Article
Estimating the Allele-Specific Expression of SNVs From 10× Genomics Single-Cell RNA-Sequencing Data.
Published in:
Genes, 2020, v. 11, n. 3, p. 240, doi. 10.3390/genes11030240
By:
- N. M., Prashant;
- Liu, Hongyu;
- Bousounis, Pavlos;
- Spurr, Liam;
- Alomran, Nawaf;
- Ibeawuchi, Helen;
- Sein, Justin;
- Reece-Stremtan, Dacian;
- Horvath, Anelia
Publication type:
Article
Carney complex and lentiginosis.
Published in:
Pigment Cell & Melanoma Research, 2009, v. 22, n. 5, p. 580, doi. 10.1111/j.1755-148X.2009.00613.x
By:
- Horvath, Anelia;
- Stratakis, Constantine A.
Publication type:
Article
Exosomes containing HIV protein Nef reorganize lipid rafts potentiating inflammatory response in bystander cells.
Published in:
PLoS Pathogens, 2019, v. 15, n. 7, p. 1, doi. 10.1371/journal.ppat.1007907
By:
- Mukhamedova, Nigora;
- Hoang, Anh;
- Dragoljevic, Dragana;
- Dubrovsky, Larisa;
- Pushkarsky, Tatiana;
- Low, Hann;
- Ditiatkovski, Michael;
- Fu, Ying;
- Ohkawa, Ryunosuke;
- Meikle, Peter J.;
- Horvath, Anelia;
- Brichacek, Beda;
- Miller, Yury I.;
- Murphy, Andrew;
- Bukrinsky, Michael;
- Sviridov, Dmitri
Publication type:
Article
Detection of apoB-100 R3500Q mutation by competitive allele-specific polymerase chain reaction.
Published in:
2001
By:
- Horvath, Anelia D.;
- Kirov, Steven A.;
- Karaulanov, Emil E.;
- Ganev, Varban S.;
- Horvath, A D;
- Kirov, S A;
- Karaulanov, E E;
- Ganev, V S
Publication type:
journal article

Found: 56