Zobrazeno 1 - 10
of 352
pro vyhledávání: '"James A. Dowling"'
Autor:
Jessica Knox, Andrew R. Burns, Brittany Cooke, Savina R. Cammalleri, Megan Kitner, Justin Ching, Jack M. P. Castelli, Emily Puumala, Jamie Snider, Emily Koury, J. B. Collins, Salma Geissah, James J. Dowling, Erik C. Andersen, Igor Stagljar, Leah E. Cowen, Mark Lautens, Inga Zasada, Peter J. Roy
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Left unchecked, plant-parasitic nematodes have the potential to devastate crops globally. Highly effective but non-selective nematicides are justifiably being phased-out, leaving farmers with limited options for managing nematode infestation
Externí odkaz:
https://doaj.org/article/609af50dc9664af39474ef0017566555
Autor:
Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100299- (2024)
Summary: Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion
Externí odkaz:
https://doaj.org/article/e106843364294daeb3b48f75146bc982
Autor:
Muthukumar Karuppasamy, Katherine G. English, Clarissa A. Henry, M. Chiara Manzini, John M. Parant, Melissa A. Wright, Avnika A. Ruparelia, Peter D. Currie, Vandana A. Gupta, James J. Dowling, Lisa Maves, Matthew S. Alexander
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 1 (2024)
Externí odkaz:
https://doaj.org/article/4f13b14e9c2a4d84a3835d5d9afdf89d
Autor:
Sophie Karolczak, Ashish R. Deshwar, Evangelina Aristegui, Binita M. Kamath, Michael W. Lawlor, Gaia Andreoletti, Jonathan Volpatti, Jillian L. Ellis, Chunyue Yin, James J. Dowling
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 18 (2023)
X-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, although AAV8-mediated gene transfer therapy has shown promise in animal models and preliminarily i
Externí odkaz:
https://doaj.org/article/abfd1acb3f994c4088ffb37901d8f229
Autor:
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100213- (2023)
Summary: Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases th
Externí odkaz:
https://doaj.org/article/08f67d5e060d475c83319e61695d173d
Autor:
Sean Harrington, Jessica J. Knox, Andrew R. Burns, Ken-Loon Choo, Aaron Au, Megan Kitner, Cecile Haeberli, Jacob Pyche, Cassandra D’Amata, Yong-Hyun Kim, Jonathan R. Volpatti, Maximillano Guiliani, Jamie Snider, Victoria Wong, Bruna M. Palmeira, Elizabeth M. Redman, Aditya S. Vaidya, John S. Gilleard, Igor Stagljar, Sean R. Cutler, Daniel Kulke, James J. Dowling, Christopher M. Yip, Jennifer Keiser, Inga Zasada, Mark Lautens, Peter J. Roy
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-14 (2022)
A C. elegans-based screening approach identifies nementin as a nematode-selective nematicide that can be used synergistically with acetylcholinesterase inhibitors
Externí odkaz:
https://doaj.org/article/b2ae40e60cd44727b137593ac69b190f
Autor:
Yukari Endo, Linda Groom, Alper Celik, Natalia Kraeva, Chang Seok Lee, Sung Yun Jung, Lois Gardner, Marie-Anne Shaw, Susan L. Hamilton, Philip M. Hopkins, Robert T. Dirksen, Sheila Riazi, James J. Dowling
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
The genetic cause(s) of malignant hyperthermia and exertional heat illness are unknown in approximately 30% of cases. To address this barrier, the authors performed genome sequencing on a large cohort of cases, identifying rare variants in ASPH, a ge
Externí odkaz:
https://doaj.org/article/0f7dda93f47146bdbbcd6f5b2e4e2f5d
Autor:
Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha, Paula Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael Shy, James J. Dowling.
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100182- (2023)
Summary: Phosphoenolpyruvate carboxykinase (PCK) plays a critical role in cytosolic gluconeogenesis, and defects in PCK1 cause a fasting-aggravated metabolic disease with hypoglycemia and lactic acidosis. However, there are two genes encoding PCK, an
Externí odkaz:
https://doaj.org/article/b48a1204d96b4004b09525521b40b74b
Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival
Autor:
Nathaniel D. Anderson, Yael Babichev, Fabio Fuligni, Federico Comitani, Mehdi Layeghifard, Rosemarie E. Venier, Stefan C. Dentro, Anant Maheshwari, Sheena Guram, Claire Wunker, J. Drew Thompson, Kyoko E. Yuki, Huayun Hou, Matthew Zatzman, Nicholas Light, Marcus Q. Bernardini, Jay S. Wunder, Irene L. Andrulis, Peter Ferguson, Albiruni R. Abdul Razak, Carol J. Swallow, James J. Dowling, Rima S. Al-Awar, Richard Marcellus, Marjan Rouzbahman, Moritz Gerstung, Daniel Durocher, Ludmil B. Alexandrov, Brendan C. Dickson, Rebecca A. Gladdy, Adam Shlien
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Heterogeneity in leiomyosarcomas (LMS) makes treatment of the disease challenging. Here the authors analyze LMS heterogeneity and molecular LMS subtypes using genomics and transcriptomics, finding origins in distinct lineages and associations with su
Externí odkaz:
https://doaj.org/article/c08bf52065ac4dcd90672db6a2810128
Autor:
Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 7 (2022)
X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin (MTM1) gene. Much of what is known about the disease, as well as the treatment str
Externí odkaz:
https://doaj.org/article/00e21e3cffdc4d9fbf0a56fd56b7ca81