Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Vasily Ramensky"'
Autor:
Anna Bukaeva, Roman Myasnikov, Olga Kulikova, Alexey Meshkov, Anna Kiseleva, Anna Petukhova, Evgenia Zotova, Peter Sparber, Alexandra Ershova, Evgeniia Sotnikova, Maria Kudryavtseva, Anastasia Zharikova, Sergey Koretskiy, Elena Mershina, Vasily Ramensky, Marija Zaicenoka, Yuri Vyatkin, Alisa Muraveva, Alexandra Abisheva, Tatiana Nikityuk, Valentin Sinitsyn, Mikhail Divashuk, Elena Dadali, Maria Pokrovskaya, Oxana Drapkina
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7556 (2024)
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosi
Externí odkaz:
https://doaj.org/article/e5f8369f251a415b864ae0aeb61178b7
Autor:
Jae Hoon Sul, Susan K. Service, Alden Y. Huang, Vasily Ramensky, Sun-Goo Hwang, Terri M. Teshiba, YoungJun Park, Anil P. S. Ori, Zhongyang Zhang, Niamh Mullins, Loes M. Olde Loohuis, Scott C. Fears, Carmen Araya, Xinia Araya, Mitzi Spesny, Julio Bejarano, Margarita Ramirez, Gabriel Castrillón, Juliana Gomez-Makhinson, Maria C. Lopez, Gabriel Montoya, Claudia P. Montoya, Ileana Aldana, Javier I. Escobar, Jorge Ospina-Duque, Barbara Kremeyer, Gabriel Bedoya, Andres Ruiz-Linares, Rita M. Cantor, Julio Molina, Giovanni Coppola, Roel A. Ophoff, Gabriel Macaya, Carlos Lopez-Jaramillo, Victor Reus, Carrie E. Bearden, Chiara Sabatti, Nelson B. Freimer
Publikováno v:
Translational Psychiatry, Vol 10, Iss 1, Pp 1-10 (2020)
Abstract Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar
Externí odkaz:
https://doaj.org/article/4087ad12ed6c4838a5079239eefcda6f
Autor:
Anna V. Lioznova, Abdullah M. Khamis, Artem V. Artemov, Elizaveta Besedina, Vasily Ramensky, Vladimir B. Bajic, Ivan V. Kulakovskiy, Yulia A. Medvedeva
Publikováno v:
BMC Genomics, Vol 20, Iss 1, Pp 1-12 (2019)
Abstract Background DNA methylation is involved in the regulation of gene expression. Although bisulfite-sequencing based methods profile DNA methylation at a single CpG resolution, methylation levels are usually averaged over genomic regions in the
Externí odkaz:
https://doaj.org/article/a97146a5224449c9b11c9d3fc525017e
Autor:
Zahir Shah, Elena S. Filonenko, Vasily Ramensky, Chenyu Fan, Cuihua Wang, Hanif Ullah, Baoyun Zhang, Pavel Volchkov, Igor M. Samokhvalov
Publikováno v:
Haematologica, Vol 106, Iss 8 (2020)
MYB is a key regulator of definitive hematopoiesis and it is dispensable for the development of primitive hematopoietic cells in vertebrates. To delineate definitive versus primitive hematopoiesis during differentiation of human embryonic stem cells,
Externí odkaz:
https://doaj.org/article/0b437c74fbde477682407e17dba169e1
Autor:
Christopher A Schmitt, Christina M Bergey, Anna J Jasinska, Vasily Ramensky, Felicity Burt, Hannes Svardal, Matthew J Jorgensen, Nelson B Freimer, J Paul Grobler, Trudy R Turner
Publikováno v:
PLoS ONE, Vol 15, Iss 6, p e0235106 (2020)
The COVID-19 pandemic, caused by the coronavirus SARS-CoV-2, has devastated health infrastructure around the world. Both ACE2 (an entry receptor) and TMPRSS2 (used by the virus for spike protein priming) are key proteins to SARS-CoV-2 cell entry, ena
Externí odkaz:
https://doaj.org/article/88d271348a364911b59da2c40d1b1416
Autor:
Susan K Service, Tanya M Teslovich, Christian Fuchsberger, Vasily Ramensky, Pranav Yajnik, Daniel C Koboldt, David E Larson, Qunyuan Zhang, Ling Lin, Ryan Welch, Li Ding, Michael D McLellan, Michele O'Laughlin, Catrina Fronick, Lucinda L Fulton, Vincent Magrini, Amy Swift, Paul Elliott, Marjo-Riitta Jarvelin, Marika Kaakinen, Mark I McCarthy, Leena Peltonen, Anneli Pouta, Lori L Bonnycastle, Francis S Collins, Narisu Narisu, Heather M Stringham, Jaakko Tuomilehto, Samuli Ripatti, Robert S Fulton, Chiara Sabatti, Richard K Wilson, Michael Boehnke, Nelson B Freimer
Publikováno v:
PLoS Genetics, Vol 10, Iss 1, p e1004147 (2014)
Genome-wide association studies (GWAS) have identified >500 common variants associated with quantitative metabolic traits, but in aggregate such variants explain at most 20-30% of the heritable component of population variation in these traits. To fu
Externí odkaz:
https://doaj.org/article/cccda629ff904e299d949ef816850660
Publikováno v:
Biophysical Reviews. 14:1161-1182
A significant fraction of mutations in proteins are deleterious and result in adverse consequences for protein function, stability, or interaction with other molecules. Intragenic compensation is a specific case of positive epistasis when a neutral m
Autor:
Igor M. Samokhvalov, Pavel Volchkov, Cuihua Wang, Zahir Shah, Baoyun Zhang, Chenyu Fan, Vasily Ramensky, Hanif Ullah, Elena S. Filonenko
Publikováno v:
Haematologica
MYB is a key regulator of definitive hematopoiesis and it is dispensable for the development of primitive hematopoietic cells in vertebrates. To delineate definitive versus primitive hematopoiesis during differentiation of human embryonic stem cells,
Publikováno v:
GigaScience
Background Structural annotation of genetic variants in the context of intermolecular interactions and protein stability can shed light onto mechanisms of disease-related phenotypes. Three-dimensional structures of related proteins in complexes with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d676bff9b73510f6aa004f7d33c3b5db
https://hdl.handle.net/21.11116/0000-000B-4789-B21.11116/0000-000B-478B-9
https://hdl.handle.net/21.11116/0000-000B-4789-B21.11116/0000-000B-478B-9
Autor:
Julio Bejarano, Javier I. Escobar, Gabriel Montoya, Andres Ruiz-Linares, Ileana Aldana, Roel A. Ophoff, Jae Hoon Sul, Niamh Mullins, Chiara Sabatti, Margarita Ramirez, Jorge Ospina-Duque, Maria C. Lopez, YoungJun Park, Carmen Araya, Victor I. Reus, Gabriel Castrillón, Carlos López-Jaramillo, Giovanni Coppola, Barbara Kremeyer, Vasily Ramensky, Zhongyang Zhang, Carrie E. Bearden, Alden Y. Huang, Gabriel Bedoya, Xinia Araya, Sun-Goo Hwang, Julio Molina, Rita M. Cantor, Scott C. Fears, Gabriel Macaya, Mitzi Spesny, Anil P.S. Ori, Terri M. Teshiba, Claudia Montoya, Juliana Gomez-Makhinson, Loes M. Olde Loohuis, Nelson B. Freimer
Publikováno v:
Translational Psychiatry
Translational Psychiatry, Nature Pub. Group, 2020, 10 (1), ⟨10.1038/s41398-020-0758-1⟩
Translational psychiatry, vol 10, iss 1
Translational Psychiatry, Vol 10, Iss 1, Pp 1-10 (2020)
Translational Psychiatry, 2020, 10 (1), ⟨10.1038/s41398-020-0758-1⟩
Translational Psychiatry, Nature Pub. Group, 2020, 10 (1), ⟨10.1038/s41398-020-0758-1⟩
Translational psychiatry, vol 10, iss 1
Translational Psychiatry, Vol 10, Iss 1, Pp 1-10 (2020)
Translational Psychiatry, 2020, 10 (1), ⟨10.1038/s41398-020-0758-1⟩
Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a00154fb1e53652bee503cf9c6ebb89b
https://hal.archives-ouvertes.fr/hal-03268999
https://hal.archives-ouvertes.fr/hal-03268999