Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Nikita R, Dsouza"'
Autor:
Nikita R. Dsouza, Catherine E. Cottrell, Olivia M. T. Davies, Megha M. Tollefson, Ilona J. Frieden, Donald Basel, Raul Urrutia, Beth A. Drolet, Michael T. Zimmermann
Publikováno v:
Life, Vol 14, Iss 3, p 297 (2024)
The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of PIK3R1 and PIK3CA are associated with vascular anomalies and
Externí odkaz:
https://doaj.org/article/fdc5d83d31bc4155be73a148f242b1e8
Autor:
Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Abstract Background Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypi
Externí odkaz:
https://doaj.org/article/e3306fa1990545148f66b913263d56ba
Autor:
Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Elise Leverence, Raul Urrutia, Michael T. Zimmermann
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 20, Iss , Pp 117-127 (2022)
In the current study, we report computational scores for advancing genomic interpretation of disease-associated genomic variation in members of the RAS family of genes. For this purpose, we applied 31 sequence- and 3D structure-based computational sc
Externí odkaz:
https://doaj.org/article/6f4ca9f2edc74280899fa531c6371dee
Autor:
Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Levrence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used in a Japanese tradit
Externí odkaz:
https://doaj.org/article/34e18bd080514777804471ce11d0cb8c
Autor:
Laura Schultz-Rogers, Francis P. Lach, Kimberly A. Rickman, Alejandro Ferrer, Abhishek A. Mangaonkar, Tanya L. Schwab, Christopher T. Schmitz, Karl J. Clark, Nikita R. Dsouza, Michael T. Zimmermann, Mark Litzow, Nicole Jacobi, Eric W. Klee, Agata Smogorzewska, Mrinal M. Patnaik
Publikováno v:
Haematologica, Vol 106, Iss 4 (2020)
Externí odkaz:
https://doaj.org/article/beb550a59f7b428c94671a0f636897b2
Autor:
Sai Suma K. Samudrala, Lauren M. North, Karl D. Stamm, Michael G. Earing, Michele A. Frommelt, Richard Willes, Swarnendu Tripathi, Nikita R. Dsouza, Michael T. Zimmermann, Donna K. Mahnke, Huan Ling Liang, Michael Lund, Chien‐Wei Lin, Gabrielle C. Geddes, Michael E. Mitchell, Aoy Tomita‐Mitchell
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sar
Externí odkaz:
https://doaj.org/article/ed8ad7c0a377492894678df22c9a0dbc
Autor:
Eric C Exner, Aron M Geurts, Brian R Hoffmann, Marc Casati, Timothy Stodola, Nikita R Dsouza, Michael Zimmermann, Julian H Lombard, Andrew S Greene
Publikováno v:
PLoS ONE, Vol 15, Iss 4, p e0232067 (2020)
The heptapeptide angiotensin-(1-7) (Ang-(1-7)) is protective in the cardiovascular system through its induction of vasodilator production and angiogenesis. Despite acting antagonistically to the effects of elevated, pathophysiological levels of angio
Externí odkaz:
https://doaj.org/article/7d9ac7567d2d453b8563af686f8ac3f7
Autor:
Angela Mathison, Thiago Milech De Assuncao, Nikita R Dsouza, Monique Williams, Michael T Zimmermann, Raul Urrutia, Gwen Lomberk
Publikováno v:
PLoS ONE, Vol 15, Iss 2, p e0217452 (2020)
By reading the H3K9Me3 mark through their N-terminal chromodomain (CD), HP1 proteins play a significant role in cancer-associated processes, including cell proliferation, differentiation, chromosomal stability, and DNA repair. Here, we used a combina
Externí odkaz:
https://doaj.org/article/749eb96432a543119e511456baeb5162
Autor:
Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Levrence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/6dedcc03033241e487a15ec0a85fcb4a
Autor:
Thiago Milech de Assuncao, Young In Chi, Angela Mathison, Nikita R. Dsouza, Gwen Lomberk, Raul Urrutia, Swarnendu Tripathi, Elise N. Leverence, Brian F. Volkman, Timothy J. Stodola, Michael T. Zimmermann, Brian C. Smith
Publikováno v:
Proteins: Structure, Function, and Bioinformatics. 90:282-298
DOT1L is the only non-SET domain histone lysine methyltransferase (KMT) and writer of H3K79 methylation on nucleosomes marked by H2B ubiquitination. DOT1L has elicited significant attention because of its interaction or fusion with members of the AF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d567343de2c5f6f971b1cd2ec649e77f
https://doi.org/10.1002/prot.26219
https://doi.org/10.1002/prot.26219