Zobrazeno 1 - 10
of 83
pro vyhledávání: '"J. Robert Manak"'
Autor:
Krishna M. Nukala, Anthony J. Lilienthal, Shu Hui Lye, Alexander G. Bassuk, Stanislava Chtarbanova, J. Robert Manak
Publikováno v:
Cell Reports, Vol 42, Iss 1, Pp 112004- (2023)
Summary: Previous work in our laboratory has shown that mutations in prickle (pk) cause myoclonic-like seizures and ataxia in Drosophila, similar to what is observed in humans carrying mutations in orthologous PRICKLE genes. Here, we show that pk mut
Externí odkaz:
https://doaj.org/article/7b3d4ce31289455297677276d5dc0cb7
Autor:
Stacey L. Peek, Peter J. Bosch, Ethan Bahl, Brianna J. Iverson, Mrutyunjaya Parida, Preeti Bais, J. Robert Manak, Jacob J. Michaelson, Robert W. Burgess, Joshua A. Weiner
Publikováno v:
iScience, Vol 25, Iss 2, Pp 103814- (2022)
Summary: Proper gene regulation is critical for both neuronal development and maintenance as the brain matures. We previously demonstrated that Akirin2, an essential nuclear protein that interacts with transcription factors and chromatin remodeling c
Externí odkaz:
https://doaj.org/article/940e5ca7dbf344f6b80be4c28e562945
Autor:
Juan F. Santana, Mrutyunjaya Parida, Abby Long, Joshua Wankum, Anthony J. Lilienthal, Krishna M. Nukala, J. Robert Manak
Publikováno v:
Cell Reports, Vol 30, Iss 10, Pp 3218-3228.e5 (2020)
Summary: Drosophila Myb (Dm-Myb) encodes a protein that plays a key role in regulation of mitotic phase genes. Here, we further refine its role in the context of a developing tissue as a potentiator of gene expression required for proper RNA polymera
Externí odkaz:
https://doaj.org/article/5df3192e221c40ab9fda468c4bcfe991
Autor:
Janani Iyer, Mayanglambam Dhruba Singh, Matthew Jensen, Payal Patel, Lucilla Pizzo, Emily Huber, Haley Koerselman, Alexis T. Weiner, Paola Lepanto, Komal Vadodaria, Alexis Kubina, Qingyu Wang, Abigail Talbert, Sneha Yennawar, Jose Badano, J. Robert Manak, Melissa M. Rolls, Arjun Krishnan, Santhosh Girirajan
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-19 (2018)
The 16p11.2 deletion leads to a range of neurodevelopmental phenotypes, but to date, sequencing studies have not been able to pinpoint individual genes that are causative for the disease on their own. Here, using Drosophila homologs of 14 16p11.2 gen
Externí odkaz:
https://doaj.org/article/d7ac17fe1f8f4fac96fe435cdcaaa18c
Autor:
Karen Handschuh, Jennifer Feenstra, Matthew Koss, Elisabetta Ferretti, Maurizio Risolino, Rediet Zewdu, Michelle A. Sahai, Jean-Denis Bénazet, Xiao P. Peng, Michael J. Depew, Laura Quintana, James Sharpe, Baolin Wang, Heather Alcorn, Roberta Rivi, Stephen Butcher, J. Robert Manak, Thomas Vaccari, Harel Weinstein, Kathryn V. Anderson, Elizabeth Lacy, Licia Selleri
Publikováno v:
Cell Reports, Vol 9, Iss 2, Pp 674-687 (2014)
Sorting and degradation of receptors and associated signaling molecules maintain homeostasis of conserved signaling pathways during cell specification and tissue development. Yet, whether machineries that sort signaling proteins act preferentially on
Externí odkaz:
https://doaj.org/article/fac2dc6a120c4b5a81b814c1c6b66887
Autor:
Muhammad T. Rahman, Erin M. Bailey, Benjamin M. Gansemer, Andrew A. Pieper, J. Robert Manak, Steven H. Green
Publikováno v:
Neurotherapeutics. 20:578-601
Autor:
Atsushi Ueda, Tristan C. D. G. O’Harrow, Xiaomin Xing, Salleh Ehaideb, J. Robert Manak, Chun-Fang Wu
Publikováno v:
Journal of Neurogenetics. 36:65-73
Autor:
Lisa A. Lansdon, Amanda Dickinson, Sydney Arlis, Huan Liu, Arman Hlas, Alyssa Hahn, Greg Bonde, Abby Long, Jennifer Standley, Anastasia Tyryshkina, George Wehby, Nanette R. Lee, Sandra Daack-Hirsch, Karen Mohlke, Santhosh Girirajan, Benjamin W. Darbro, Robert A. Cornell, Douglas W. Houston, Jeffrey C. Murray, J. Robert Manak
Publikováno v:
Am J Hum Genet
Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex, heterogeneous etiology. It is well established that common and rare sequence variants contribute to the formation of CL/P, but the contribution of copy-number vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bba6616746d610ade3107edac5c664d
https://europepmc.org/articles/PMC9892779/
https://europepmc.org/articles/PMC9892779/
While copy number variants (CNVs) have been identified as an important cause of rare genetic disorders, they have also been identified in unaffected control populations, making clinical interpretation of these lesions challenging. Discriminating beni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97468729b8b02a0e3c1d82d010290b13
https://doi.org/10.1101/2022.10.17.22280252
https://doi.org/10.1101/2022.10.17.22280252
The interpretation of clinical chromosomal microarrays (CMAs) has historically relied on the relevance of identified copy number variants (CNVs) to the clinical phenotype. New interpretation guidelines are focused on standardizing pathogenicity class
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3785a22a0ab27788acb5f9e8a1f9a03
https://doi.org/10.1101/2022.09.26.22278681
https://doi.org/10.1101/2022.09.26.22278681