Incidence of ancient variants associated with oncological diseases in modern populations

Authors: Draga Toncheva, Maria Marinova, Plamenka Borovska, Dimitar Serbezov

Source: Biotechnology & Biotechnological Equipment, Vol 37, Iss 1, Pp 42-48 (2023)

Subject Terms: Ancient DNA, genome-wide data, variants associated with cancer, VHL gene, TP53 gene, BRCA2 gene, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/21e5be0b92d14c0d9ea4cc620da58400

Detection of pathogenic variants in Alzheimer’s disease related genes in Bulgarian patients by pooled whole-exome sequencing

Authors: Sena Karachanak-Yankova, Dimitar Serbezov, Marta Mihaylova, Dragomira Nikolova, Lubomir Balabanski, Vera Damyanova, Olga Antonova, Rada Staneva, Mihail Ganev, Victoria Spasova, Blaga Rukova, Desislava Nesheva, Slavica Josifovska, Mikaela Stancheva, Diana Belejanska, Mariya Petrova, Shima Mehrabian, Latchezar Traykov, Savina Hadjidekova, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 37, Iss 1, Pp 74-78 (2023)

Subject Terms: Alzheimer’s disease, pathogenic variants, pool-seq analysis, Bulgarian population, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/9f16b95efe9046c1b5858050d17509bf

Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia

Authors: Yu-Han H. Hsu, Greta Pintacuda, Ruize Liu, Eugeniu Nacu, April Kim, Kalliopi Tsafou, Natalie Petrossian, William Crotty, Jung Min Suh, Jackson Riseman, Jacqueline M. Martin, Julia C. Biagini, Daya Mena, Joshua K.T. Ching, Edyta Malolepsza, Taibo Li, Tarjinder Singh, Tian Ge, Shawn B. Egri, Benjamin Tanenbaum, Caroline R. Stanclift, Annie M. Apffel, Steven A. Carr, Monica Schenone, Jake Jaffe, Nadine Fornelos, Hailiang Huang, Kevin C. Eggan, Kasper Lage, Stephan Ripke, Benjamin M. Neale, Aiden Corvin, James T.R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Martin Begemann, Richard A. Belliveau, Jr., Judit Bene, Sarah E. Bergen, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, William Byerley, Wiepke Cahn, Guiqing Cai, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberley D. Chambert, Raymond C.K. Chan, Ronald Y.L. Chan, Eric Y.H. Chen, Wei Cheng, Eric FC. Cheung, Siow Ann Chong, C. Robert Cloninger, David Cohen, Nadine Cohen, Paul Cormican, Nick Craddock, James J. Crowley, David Curtis, Michael Davidson, Kenneth L. Davis, Franziska Degenhardt, Jurgen Del Favero, Ditte Demontis, Dimitris Dikeos, Timothy Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Naser Durmishi, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H. Fanous, Martilias S. Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B. Freimer, Marion Friedl, Joseph I. Friedman, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Ina Giegling, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I. Goldstein, Vera Golimbet, Srihari Gopal, Jacob Gratten, Lieuwe de Haan, Christian Hammer, Marian L. Hamshere, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Annette M. Hartmann, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Mads V. Hollegaard, David M. Hougaard, Masashi Ikeda, Inge Joa, Antonio Julià, René S. Kahn, Luba Kalaydjieva, Sena Karachanak-Yankova, Juha Karjalainen, David Kavanagh, Matthew C. Keller, James L. Kennedy, Andrey Khrunin, Yunjung Kim, Janis Klovins, James A. Knowles, Bettina Konte, Vaidutis Kucinskas, Zita Ausrele Kucinskiene, Hana Kuzelova-Ptackova, Anna K. Kähler, Claudine Laurent, Jimmy Lee, S. Hong Lee, Sophie E. Legge, Bernard Lerer, Miaoxin Li, Tao Li, Kung-Yee Liang, Jeffrey Lieberman, Svetlana Limborska, Carmel M. Loughland, Jan Lubinski, Jouko Lönnqvist, Milan Macek, Patrik K.E. Magnusson, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Sara Marsal, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Andrew M. McIntosh, Sandra Meier, Carin J. Meijer, Bela Melegh, Ingrid Melle, Raquelle I. Mesholam-Gately, Andres Metspalu, Patricia T. Michie, Lili Milani, Vihra Milanova, Younes Mokrab, Derek W. Morris, Ole Mors, Kieran C. Murphy, Robin M. Murray, Inez Myin-Germeys, Bertram Müller-Myhsok, Mari Nelis, Igor Nenadic, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Liene Nikitina-Zake, Laura Nisenbaum, Annelie Nordin, Eadbhard O'Callaghan, Colm O'Dushlaine, F. Anthony O'Neill, Sang-Yun Oh, Ann Olincy, Line Olsen, Jim Van Os, Christos Pantelis, George N. Papadimitriou, Sergi Papiol, Elena Parkhomenko, Michele T. Pato, Tiina Paunio, Milica Pejovic-Milovancevic, Diana O. Perkins, Olli Pietiläinen, Jonathan Pimm, Andrew J. Pocklington, John Powell, Alkes Price, Ann E. Pulver, Shaun M. Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander L. Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Alan R. Sanders, Ulrich Schall, Christian R. Schubert, Thomas G. Schulze, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Jianxin Shi, Engilbert Sigurdsson, Teimuraz Silagadze, Jeremy M. Silverman, Kang Sim, Petr Slominsky, Jordan W. Smoller, Hon-Cheong So, Chris C.A. Spencer, Eli A. Stahl, Hreinn Stefansson, Stacy Steinberg, Elisabeth Stogmann, Richard E. Straub, Eric Strengman, Jana Strohmaier, T Scott Stroup, Mythily Subramaniam, Jaana Suvisaari, Dragan M. Svrakic, Jin P. Szatkiewicz, Erik Söderman, Srinivas Thirumalai, Draga Toncheva, Sarah Tosato, Juha Veijola, John Waddington, Dermot Walsh, Dai Wang, Qiang Wang, Bradley T. Webb, Mark Weiser, Dieter B. Wildenauer, Nigel M. Williams, Stephanie Williams, Stephanie H. Witt, Aaron R. Wolen, Emily H.M. Wong, Brandon K. Wormley, Hualin Simon Xi, Clement C. Zai, Xuebin Zheng, Fritz Zimprich, Naomi R. Wray, Kari Stefansson, Peter M. Visscher, Rolf Adolfsson, Ole A. Andreassen, Douglas H.R. Blackwood, Elvira Bramon, Joseph D. Buxbaum, Anders D. Børglum, Sven Cichon, Ariel Darvasi, Enrico Domenici, Hannelore Ehrenreich, Tõnu Esko, Pablo V. Gejman, Michael Gill, Hugh Gurling, Christina M. Hultman, Nakao Iwata, Assen V. Jablensky, Erik G. Jönsson, Kenneth S. Kendler, George Kirov, Jo Knight, Todd Lencz, Douglas F. Levinson, Qingqin S. Li, Jianjun Liu, Anil K. Malhotra, Steven A. McCarroll, Andrew McQuillin, Jennifer L. Moran, Preben B. Mortensen, Bryan J. Mowry, Markus M. Nöthen, Roel A. Ophoff, Michael J. Owen, Aarno Palotie, Carlos N. Pato, Tracey L. Petryshen, Danielle Posthuma, Marcella Rietschel, Brien P. Riley, Dan Rujescu, Pak C. Sham, Pamela Sklar, David St Clair, Daniel R. Weinberger, Jens R. Wendland, Thomas Werge, Mark J. Daly, Patrick F. Sullivan, Michael C. O'Donovan, Shengying Qin, Akira Sawa, Rene Kahn, Kyung Sue Hong, Wenzhao Shi, Ming Tsuang, Masanari Itokawa, Gang Feng, Stephen J. Glatt, Xiancang Ma, Jinsong Tang, Yunfeng Ruan, Feng Zhu, Yasue Horiuchi, Byung Dae Lee, Eun-Jeong Joo, Woojae Myung, Kyooseob Ha, Hong-Hee Won, Ji Hyung Baek, Young Chul Chung, Sung-Wan Kim, Agung Kusumawardhani, Wei J. Chen, Hai-Gwo Hwu, Akitoyo Hishimoto, Ikuo Otsuka, Ichiro Sora, Tomoko Toyota, Takeo Yoshikawa, Hiroshi Kunugi, Kotaro Hattori, Sayuri Ishiwata, Shusuke Numata, Tetsuro Ohmori, Makoto Arai, Yuji Ozeki, Kumiko Fujii, Se Joo Kim, Heon-Jeong Lee, Yong Min Ahn, Se Hyun Kim, Kazufumi Akiyama, Kazutaka Shimoda, Makoto Kinoshita

Source: iScience, Vol 26, Iss 5, Pp 106701- (2023)

Subject Terms: Molecular interaction, Developmental neuroscience, Cellular neuroscience, Proteomics, Science

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004223007782; https://doaj.org/toc/2589-0042

Access URL: https://doaj.org/article/49cc77d8d4ee4572b1f6ef76532d303e

Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer’s disease patients

Authors: Lubomir Balabanski, Dimitar Serbezov, Maya Atanasoska, Sena Karachanak-Yankova, Savina Hadjidekova, Dragomira Nikolova, Olga Boyanova, Rada Staneva, Radoslava Vazharova, Marta Mihailova, Vera Damyanova, Desislava Nesheva, Diana Belejanska, Shima Mehrabian, Lachezar Traykov, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 35, Iss 1, Pp 1256-1262 (2021)

Subject Terms: alzheimer’s disease, molecular pathways, whole-exome sequencing, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/69eab2e91aa343ae9dd277605a11f652

Molecular response in long-term monitoring of patients with chronic myelogenic leukemia (CML) on nilotinib therapy

Authors: Dragomira Nikolova, Vera Damyanova, Atanas Radinov, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 35, Iss 1, Pp 650-656 (2021)

Subject Terms: chronic myelogenic leukemia (cml), molecular response, nilotinib, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/316180cc964f40958544dea1cc5294c8

Propelling Healthcare with Advanced Therapy Medicinal Products: A Policy Discussion

Authors: Denis Horgan, Andres Metspalu, Marie-Christine Ouillade, Dimitrios Athanasiou, John Pasi, Oumeya Adjali, Patrick Harrison, Cedric Hermans, Giovanni Codacci-Pisanelli, Jasmina Koeva, Thomas Szucs, Viorica Cursaru, Ivica Belina, Chiara Bernini, Suijie Zhuang, Stephen McMahon, Draga Toncheva, Thomas Thum

Source: Biomedicine Hub, Vol 5, Iss 3, Pp 1-23 (2020)

Subject Terms: european union, gene therapy, gene transfer, personalised healthcare, personalised medicine, policy, quality of life, tissue engineering, vector design, virus, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/511678; https://doaj.org/toc/2296-6870

Access URL: https://doaj.org/article/03c4b1c6d73e4f6bbb7d99038dd42ff2

Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA.

Authors: Draga Toncheva, Maria Marinova, Plamenka Borovska, Dimitar Serbezov

Source: PLoS ONE, Vol 17, Iss 6, p e0269628 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/20ac22a600ab424b89f48b188fa24821

Genes predisposing to obesity emphasize G-protein coupled receptor associated pathways in healthy Bulgarian individuals

Authors: Marta Mihaylova, Dimitar Serbezov, Lubomir Balabanski, Sena Karachanak-Yankova, Dragomira Nikolova, Vera Damyanova, Savina Hadzhidekova, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 34, Iss 1, Pp 690-697 (2020)

Subject Terms: obesity, genetic variants, molecular pathways, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/77ee2932d79048f2ae77b1960d7d49c1

Expression profiling of muscle invasive and non-invasive bladder tumors for biomarkers identification related to drug resistance, sensitivity and tumor progression

Authors: Olga Antonova, Blaga Rukova, Boris Mladenov, Simeon Rangelov, Zora Hammoudeh, Desislava Nesheva, Rada Staneva, Viktoria Spasova, Evgeni Grigorov, Savina Hadjidekova, Chavdar Slavov, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 34, Iss 1, Pp 506-514 (2020)

Subject Terms: bladder, cancer, biomarker, muscle-invasive, drug, resistance, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/3e62798fdd4d4d4db5aacf6122e602ed

Prioritization of genetic variants predisposing to coronary heart disease in the Bulgarian population using centenarian exomes

Authors: Mihail Ganev, Lubomir Balabanski, Dimitar Serbezov, Sena Karachanak-Yankova, Radoslava Vazharova, Desislava Nesheva, Zora Hammoudeh, Dragomira Nikolova, Olga Antonova, Rada Staneva, Marta Mihaylova, Vera Damyanova, Savina Hadjidekova, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 33, Iss 1, Pp 1757-1765 (2019)

Subject Terms: coronary heart disease associated variants, whole-exome sequencing, centenarians, bulgarian, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/bb04476f30124e098a0c0d56ae2bf45c

Preimplantation genetic testing: method and two case studies of familial three-way complex translocations

Authors: Slavyana Yaneva Staykova, Rada Staneva, Georgi Stamenov, Maria Pancheva, Maria Serafimova, Kristina Nikolova, Draga Toncheva, Savina Hadjidekova

Source: Biotechnology & Biotechnological Equipment, Vol 33, Iss 1, Pp 1663-1670 (2019)

Subject Terms: pgt, acgh, translocations, complex chromosomal rearrangements, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/5ab70d615e1c4f49a87f19d3a1a290f3

SCN8A p.Arg1872Gln mutation in early infantile epileptic encephalopathy type 13: Review and case report

Authors: Maya Atanasoska, Radoslava Vazharova, Ivan Ivanov, Lubomir Balabanski, Silvia Andonova, Samuil Ivanov, Iliana Pacheva, Maxim Malinov, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 32, Iss 6, Pp 1345-1351 (2018)

Subject Terms: SCN8A, voltage-gated sodium channels, epilepsy, Nav1.6, next-generation sequencing, neurodegeneration, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/55309ff54a6f4886821c7554ab69568d

Genomics of longevity: recent insights from research on centenarians

Authors: Dimitar Serbezov, Lubomir Balabanski, Savina Hadjidekova, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 32, Iss 6, Pp 1359-1366 (2018)

Subject Terms: Centenarians, longevity, genome, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/8524e0af80ea40ca8e17de41f79ac162

Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders

Authors: Slavica Josifovska, Radoslava Vazharova, Lubomir Balabanski, Maxim Malinov, Anna Kaneva, Sasho Panov, Savina Hadjidekova, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 32, Iss 3, Pp 679-685 (2018)

Subject Terms: Cardiovascular disease, next-generation sequencing, double heterozygosity, SCN5A, ELN, CACNA1C, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/3e7e8e4d5f2047fa854a9ee694cc8df0

Metachronous Development of Meningothelial Meningioma, Basal Cell Carcinoma, and Glioblastoma Multiforme in a Patient with Pancreatic Incidentaloma

Authors: Emanuil Naydenov, Venceslav Bussarsky, Kostadin Angelov, Marin Penkov, Sevdalin Nachev, Savina Hadjidekova, Draga Toncheva

Source: Case Reports in Oncology, Vol 10, Iss 3, Pp 1023-1028 (2017)

Subject Terms: Pancreatic incidentaloma, Meningothelial meningioma, Glioblastoma multiforme, Basocellular carcinoma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/484404; https://doaj.org/toc/1662-6575

Access URL: https://doaj.org/article/559cf198ea354dfbba5faf7ee78c138e

Screening of pharmacogenetic variants associated with drug sensitivity in patients with papillary thyroid carcinoma using next generation sequencing

Authors: Zora Hammoudeh, Dragomira Nikolova, Lubomir Balabanski, Samuil Ivanov, Radoslava Vazharova, Sabine Weidner, Maxim Malinov, Draga Toncheva

Source: Biotechnology & Biotechnological Equipment, Vol 31, Iss 4, Pp 761-765 (2017)

Subject Terms: Papillary thyroid cancer (PTC), drug sensitivity, next generation sequencing (NGS), pharmacogenetic variants, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://doaj.org/toc/1310-2818; https://doaj.org/toc/1314-3530

Access URL: https://doaj.org/article/c15b0d21b6284a2c82bff71e57e01405

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations

Authors: Lubomir Balabanski MSc, Dimitar Serbezov PhD, Dragomira Nikolova PhD, Olga Antonova PhD, Desislava Nesheva PhD, Zora Hammoudeh PhD, Radoslava Vazharova PhD, Sena Karachanak-Yankova PhD, Rada Staneva PhD, Marta Mihaylova PhD, Vera Damyanova PhD, Savina Hadjidekova PhD, Draga Toncheva PhD

Source: Technology in Cancer Research & Treatment, Vol 19 (2020)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/1533-0338

Access URL: https://doaj.org/article/0fe8fad5d789431cae223b2e68b77e63

Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease.

Authors: Draga Toncheva, Dimitar Serbezov, Sena Karachanak-Yankova, Desislava Nesheva

Source: PLoS ONE, Vol 15, Iss 9, p e0233666 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/bf2dbf030ae84faababf468e4180dbc2

A de novo microdeletion 2p24.3-25.1 identified in a girl with global development delay

Authors: Hristo Y. Ivanov, Vili K. Stoyanova, Radoslava Vazharova, Aleksandar Linev, Ivan Ivanov, Samuil Ivanov, Lubomir Balabanski, Draga Toncheva

Source: BioDiscovery, Vol 18, Iss , Pp 1-4 (2015)

Subject Terms: microdeletion 2p24.3-25.1, global development dela, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://biodiscovery.pensoft.net/article/8967/download/pdf/; https://biodiscovery.pensoft.net/article/8967/download/xml/; https://biodiscovery.pensoft.net/article/8967/; https://doaj.org/toc/2050-2966

Access URL: https://doaj.org/article/2bcd4c71a7394bb8b6d9ea9afff03eab

Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.

Authors: Shima Mehrabian, Håkan Thonberg, Margarita Raycheva, Lena Lilius, Katya Stoyanova, Charlotte Forsell, Lena Cavallin, Desislava Nesheva, Eric Westman, Draga Toncheva, Latchezar Traykov, Bengt Winblad, Caroline Graff

Source: PLoS ONE, Vol 13, Iss 12, p e0208383 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/add95637bef840a3b4f9c5de3c500521