Zobrazeno 1 - 10
of 287
pro vyhledávání: '"James J. Dowling."'
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
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
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
Autor:
Karla G. Espinosa, Salma Geissah, Linda Groom, Jonathan Volpatti, Ian C. Scott, Robert T. Dirksen, Mo Zhao, James J. Dowling
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 5 (2022)
Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation–contraction coupling (ECC). Bi-allelic autosomal-recessive mutations in striated muscle
Externí odkaz:
https://doaj.org/article/2237b4df52b6438680f7999d6964c747
Autor:
Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-16 (2020)
Abstract The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to
Externí odkaz:
https://doaj.org/article/94e0bf7a004048e1962b07df5b775e8b
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 7, Pp 1132-1140 (2020)
Abstract Background The first‐line use of specialized metabolic screening laboratories in the investigation of hypotonia and/or developmental delay remains a standard practice despite lack of supporting evidence. Our study aimed to address the util
Externí odkaz:
https://doaj.org/article/dc3fa4b95e3a4c9abf73f408a8a551aa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-35 (2020)
Abstract Background Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1
Externí odkaz:
https://doaj.org/article/7a62b41e32a4459eb65dc74103516518
Autor:
Andrew R. Burns, Rachel J. Baker, Megan Kitner, Jessica Knox, Brittany Cooke, Jonathan R. Volpatti, Aditya S. Vaidya, Emily Puumala, Bruna M. Palmeira, Elizabeth M. Redman, Jamie Snider, Sagar Marwah, Sai W. Chung, Margaret H. MacDonald, Jens Tiefenbach, Chun Hu, Qi Xiao, Constance A. M. Finney, Henry M. Krause, Sonya A. MacParland, Igor Stagljar, John S. Gilleard, Leah E. Cowen, Susan L. F. Meyer, Sean R. Cutler, James J. Dowling, Mark Lautens, Inga Zasada, Peter J. Roy
Publikováno v:
Nature. 618:102-109
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d256724eac25ff571f398783e9bf2a3e
https://doi.org/10.1038/s41586-023-06105-5
https://doi.org/10.1038/s41586-023-06105-5