Zobrazeno 1 - 10
of 99
pro vyhledávání: '"P. W. Scherer"'
Autor:
Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Benjamin Zhang, Maria Sundberg, Cidi Chen, Elizabeth D. Buttermore, Nina Makhortova, Jennifer Howe, Mustafa Sahin, Stephen W. Scherer
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 638-647 (2024)
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas nucleases and human induced pluripotent stem cell (iPSC) technology can reveal deep insight into the genetic and molecular bases of human biology and disease. Undesired editing ou
Externí odkaz:
https://doaj.org/article/fce05ccaaede435b84e6e74474bfe7f5
Autor:
Si Lok, Timothy N. H. Lau, Brett Trost, Amy H. Y. Tong, Tara Paton, Richard F. Wintle, Mark D. Engstrom, Anne Gunn, Stephen W. Scherer
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-23 (2024)
Abstract The muskox (Ovibos moschatus), an integral component and iconic symbol of arctic biocultural diversity, is under threat by rapid environmental disruptions from climate change. We report a chromosomal-level haploid genome assembly of a muskox
Externí odkaz:
https://doaj.org/article/7c530920e7624924a0cb307d81999c43
Autor:
Jane Summers, Danielle Baribeau, Polina Perlman, Ny Hoang, Sunny Cui, Aneta Krakowski, Patricia Ambrozewicz, Ariel Ho, Thanuja Selvanayagam, Kinga A. Sándor-Bajusz, Katrina Palad, Nishi Patel, Sarah McGaughey, Louise Gallagher, Stephen W. Scherer, Peter Szatmari, Jacob Vorstman
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis oft
Externí odkaz:
https://doaj.org/article/ca9ed78208374a51947780212627862f
Autor:
Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Rulan Shaath, Geethanjali Devadoss Gandhi, Worrawat Engchuan, Jennifer Howe, Bhooma Thiruvahindrapuram, Melissa Geng, Joe Whitney, Amira Syed, Jyothi Lakshmi, Sura Hussein, Najwa Albashir, Amal Hussein, Ilaria Poggiolini, Saba F. Elhag, Sasirekha Palaniswamy, Marios Kambouris, Maria de Fatima Janjua, Mohamed O. El Tahir, Ahsan Nazeer, Durre Shahwar, Muhammad Waqar Azeem, Younes Mokrab, Nazim Abdel Aati, Ammira Akil, Stephen W. Scherer, Madeeha Kamal, Khalid A. Fakhro
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently
Externí odkaz:
https://doaj.org/article/05529e45040b4a24a408cfbaedbd8c6f
Autor:
Miriam S. Reuter, Dustin J. Sokolowski, J. Javier Diaz-Mejia, Johannes Keunen, Barbra de Vrijer, Cadia Chan, Liangxi Wang, Greg Ryan, David A. Chiasson, Troy Ketela, Stephen W. Scherer, Michael D. Wilson, Edgar Jaeggi, Rajiv R. Chaturvedi
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-14 (2023)
Abstract Low blood flow through the fetal left heart is often conjectured as an etiology for hypoplastic left heart syndrome (HLHS). To investigate if a decrease in left heart flow results in growth failure, we generate left ventricular inflow obstru
Externí odkaz:
https://doaj.org/article/8284083b8cd142eb97e9e9c59d7a03d6
Autor:
Chad O. Brown, Jarryll A. Uy, Nadeem Murtaza, Elyse Rosa, Alexandria Alfonso, Biren M. Dave, Savannah Kilpatrick, Annie A. Cheng, Sean H. White, Stephen W. Scherer, Karun K. Singh
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2024)
SCN2A is an autism spectrum disorder (ASD) risk gene and encodes a voltage-gated sodium channel. However, the impact of ASD-associated SCN2A de novo variants on human neuron development is unknown. We studied SCN2A using isogenic SCN2A–/– induced
Externí odkaz:
https://doaj.org/article/f6fe74ea31354341815d8ba00404d414
Publikováno v:
IFAC WC 2020, Berlin
This paper proposes a framework to assess the stability of an ordinary differential equation which is coupled to a 1D-partial differential equation (PDE). The stability theorem is based on a new result on Integral Quadratic Constraints (IQCs) and exp
Externí odkaz:
http://arxiv.org/abs/2003.06283
Autor:
Leo McKay, Berardino Petrelli, Molly Pind, James N. Reynolds, Richard F. Wintle, Albert E. Chudley, Britt Drögemöller, Abraham Fainsod, Stephen W. Scherer, Ana Hanlon-Dearman, Geoffrey G. Hicks
Publikováno v:
Biomolecules, Vol 14, Iss 5, p 569 (2024)
Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that affects an estimated 2–5% of North Americans. FASD is induced by prenatal alcohol exposure (PAE) during pregnancy and while there is a clear genetic contribution, f
Externí odkaz:
https://doaj.org/article/d3ecba3d3c3041e2b9255bc61b22cafc
Autor:
Muhammad Faheem, Eric Deneault, Roumiana Alexandrova, Deivid C. Rodrigues, Giovanna Pellecchia, Carole Shum, Mehdi Zarrei, Alina Piekna, Wei Wei, Jennifer L. Howe, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, P. Joel Ross, Clarrisa A. Bradley, James Ellis, Stephen W. Scherer
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-12 (2023)
Abstract Background The X-linked PTCHD1 locus is strongly associated with autism spectrum disorder (ASD). Males who carry chromosome microdeletions of PTCHD1 antisense long non-coding RNA (PTCHD1-AS)/DEAD-box helicase 53 (DDX53) have ASD, or a sub-cl
Externí odkaz:
https://doaj.org/article/ad5d028dd05343348ea7357073f240f8
Autor:
Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer L. Howe, Jacob Vorstman, Neal Sondheimer, Nicole Takahashi, Judith H. Miles, Evdokia Anagnostou, Kristiina Tammimies, Mehdi Zarrei, Daniele Merico, Dimitri J. Stavropoulos, Ryan K. C. Yuen, Bridget A. Fernandez, Stephen W. Scherer
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Morphological subtypes of autism spectrum disorder (ASD) may differ in their genetic bases. Chan et al. develop a method for calculating a patient-level, genome-wide rare variant score and find significant differences in rare and common variant assoc
Externí odkaz:
https://doaj.org/article/daff05382e894c1ca9c8df1af30b6dc7