Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Colin D. Malone"'
Autor:
David Goldstein, Melissa Stosic, Odelia Nahum, Louise Bier, Vimla S. Aggarwal, Colin D. Malone, Erica Spiegel, Brynn Levy, Jessica L. Giordano, Caroline Mebane, Ronald J. Wapner, Karen Wou, Kelly Brennan, Russell Miller, Nicholas Stong, Slavé Petrovski, Xiaolin Zhu, Quanli Wang, Sitharthan Kamalakaran, Kwame Anyane-Yeboa, Zhong Ren, Vaidehi Jobanputra
Publikováno v:
The Lancet. 393:758-767
Summary Background Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of a few selected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9efef268f5fe6e83dd0772d67bd974ed
https://doi.org/10.1016/s0140-6736(18)32042-7
https://doi.org/10.1016/s0140-6736(18)32042-7
Autor:
Hila Milo-Rasouly, Sophia R. Cameron-Christie, Vimla Aggarwal, Carolina Haefliger, Byum Hee Kil, Adam Platt, Brett Copeland, Andrew S. Bomback, Wan Yee Lam, Natalie S Uy, Simone Sanna-Cherchi, Junying Zhang, Rachel Reingold, Zhong Ren, Stacy Piva, Adele Mitrotti, David J. Cohen, Debanjana Chatterjee, Ruth March, Emily E. Groopman, Maddalena Marasa, Drew Bradbury, Sumit Mohan, Michael DiVecchia, David Goldstein, Shumyle Alam, Colin D. Malone, Jordan G. Nestor, Jan Fleckner, Chunhua Weng, Gerald B. Appel, Yifu Li, Priya Krithivasan, Russell J. Crew, Neha Dagaonkar, Olivia Balderes, Karla Mehl, David Fasel, Holly J. Snyder, Maya K. Rao, Joshua Bridgers, Geoffrey K. Dube, Krzysztof Kiryluk, Pietro A. Canetta, Bengt Fellström, Ali G. Gharavi, Jai Radhakrishnan, Wooin Ahn, Caroline Mebane, Slavé Petrovski, Xueru Mu, Sitharthan Kamalakaran
Publikováno v:
New England Journal of Medicine. 380:142-151
BACKGROUND: Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e8c8b3cbd348e504a27d334077dccd
https://doi.org/10.1056/nejmoa1806891
https://doi.org/10.1056/nejmoa1806891
Autor:
Manu Hegde, Catherine A. Schevon, Alison M. Pack, Annapurna Poduri, Gerald A. Grant, Mohamad A. Mikati, Edward Yang, Werner Doyle, Patricia Dugan, Katherine M. Keever, Danielle McBrian, Peter B. Crino, Hart G.W. Lidov, David Zagzag, Senthilmurugan Ramalingam, Dinesh Rathakrishnan, Jurriaan M. Peters, Erin L. Heinzen, Sameer A. Sheth, Peter Canoll, Catherine Shain, Ann M. Bergin, Brenda E. Porter, Colin D. Malone, Andrew S. Allen, Jorge Samanamud, Joseph R. Madsen, Christopher M. LaCoursiere, Nicole G. Griffin, Guy M. McKhann, Cigdem I. Akman, Evan H. Baugh, Carrie R. Muh, Melodie R. Winawer
Publikováno v:
Annals of neurology, vol 83, iss 6
OBJECTIVE Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including nonlesional focal epilepsy (NLFE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::150e8e295ba763aa6dc47b2c75cfef4d
https://escholarship.org/uc/item/58k5h2db
https://escholarship.org/uc/item/58k5h2db
Autor:
Anna Jankowska, Adam P. Rosebrock, Felix Muerdter, Gregory J. Hannon, Barbara T. Wakimoto, Delphine Fagegaltier, Colin D. Malone, Yang Yu, Kaja A. Wasik, Vasily V. Vagin, Yicheng Luo, Emily J. Harrison
Publikováno v:
RNA. 19:1064-1077
Piwi proteins and their associated small RNAs are essential for fertility in animals. In part, this is due to their roles in guarding germ cell genomes against the activity of mobile genetic elements. piRNA populations direct Piwi proteins to silence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a3779d6d5b4f284cac2bf743f336a9c
https://doi.org/10.1261/rna.039669.113
https://doi.org/10.1261/rna.039669.113
Autor:
Benjamin Czech, Ruth Lehmann, Gregory J. Hannon, Jonathan B. Preall, Carlos G. Sanchez, Colin D. Malone, Felipe Karam Teixeira, Andrea L. Zamparini, Jessica R. K. Seifert
Complex regulatory networks regulate stem cell behavior and contributions to tissue growth, repair, and homeostasis. A full understanding of the networks controlling stem cell self-renewal and differentiation, however, has not yet been realized. To s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ef8f95cd36bd6fc0eb9de34825e0ea
https://europepmc.org/articles/PMC4744108/
https://europepmc.org/articles/PMC4744108/
Autor:
Prashanth Rangan, Patrick S. Hayes, Colin D. Malone, Sam P. Newbold, Caryn Navarro, Gregory J. Hannon, Ruth Lehmann, Ravi Sachidanandam
Publikováno v:
Current Biology. 21(16):1373-1379
Summary Protecting the genome from transposable element (TE) mobilization is critical for germline development. In Drosophila, Piwi proteins and their bound small RNAs (piRNAs) provide a potent defense against TE activity. TE targeting piRNAs are pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3726798afc0817aeabac26a534e3f8b9
Autor:
Lukas E. Dow, Claudio Scuoppo, Kenneth R. Shroyer, Scott W. Lowe, Cornelius Miething, Ross A. Dickins, Matthew Camiolo, Prem K. Premsrirut, Colin D. Malone, Gregory J. Hannon, Johannes Zuber, Raffaella Sordella, Sang Yong Kim, Scott C. Kogan
Publikováno v:
Cell. 145(1):145-158
Summary RNA interference is a powerful tool for studying gene function, however, the reproducible generation of RNAi transgenic mice remains a significant limitation. By combining optimized fluorescence-coupled miR30-based shRNAs with high efficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c10d82b2f2e01fe1afbaec18ebf92548
Autor:
Andrea L. Zamparini, Gregory J. Hannon, Marie Y. Davis, Colin D. Malone, Eric Vieira, Ruth Lehmann, Ravi Sachidanandam, Jiri Zavadil
Publikováno v:
Development (Cambridge, England)
In Drosophila, Piwi proteins associate with Piwi-interacting RNAs (piRNAs) and protect the germline genome by silencing mobile genetic elements. This defense system acts in germline and gonadal somatic tissue to preserve germline development. Genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a083200f921f6269f4e5ab2570e37061
http://europepmc.org/articles/PMC3160098
http://europepmc.org/articles/PMC3160098
Autor:
Gregory J. Hannon, Michael O. Hengartner, Qikai Xu, Katherine McJunkin, Christof Fellmann, Stephen J. Elledge, Colin D. Malone, Ross A. Dickins, Johannes Zuber, Kenneth Chang, Scott W. Lowe
Publikováno v:
Molecular Cell
Short hairpin RNAs (shRNAs) provide powerful experimental tools by enabling stable and regulated gene silencing through programming of endogenous microRNA pathways. Since requirements for efficient shRNA biogenesis and target suppression are largely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0425f1aa9e5c715622447ef7c077604
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130540/
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130540/
Autor:
Colin D. Malone, Gregory J. Hannon
Publikováno v:
Cell. 136:656-668
Transposons populate the landscape of all eukaryotic genomes. Often considered purely genomic parasites, transposons can also benefit their hosts, playing roles in gene regulation and in genome organization and evolution. Peaceful coexistence with mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38a7b937703a20fdce3bf254c2981caa
https://doi.org/10.1016/j.cell.2009.01.045
https://doi.org/10.1016/j.cell.2009.01.045