Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Jason C Collins"'
Publikováno v:
PLoS Biology, Vol 18, Iss 10, p e3000960 (2020)
[This corrects the article DOI: 10.1371/journal.pbio.3000329.].
Externí odkaz:
https://doaj.org/article/9e35026bcfc748ada69f6afb6ae1b7b0
Publikováno v:
PLoS Biology, Vol 17, Iss 12, p e3000329 (2019)
Premature release of nascent ribosomes into the translating pool must be prevented because these do not support viability and may be prone to mistakes. Here, we show that the kinase Rio1, the nuclease Nob1, and its binding partner Pno1 cooperate to e
Externí odkaz:
https://doaj.org/article/1ec7a4246f8c4a47b0f1827cc5d04d34
Autor:
Harish E. Chatrathi, William A. Gahl, Achim Werner, Jason C. Collins, Lynne A. Wolfe, Thomas C. Markello, David R. Adams, Prashant Sharma
Publikováno v:
Hypertension. 79:60-75
Familial hyperkalemic hypertension is caused by pathogenic variants in genes of the CUL3 (cullin-3)-KLHL3 (kelch-like-family-member-3)-WNK (with no-lysine [K] kinase) pathway, manifesting clinically as hyperkalemia, metabolic acidosis, and high systo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f90f5c44f44e373d859a2276d695e40
https://doi.org/10.1161/hypertensionaha.121.17624
https://doi.org/10.1161/hypertensionaha.121.17624
Autor:
Harish E, Chatrathi, Jason C, Collins, Lynne A, Wolfe, Thomas C, Markello, David R, Adams, William A, Gahl, Achim, Werner, Prashant, Sharma
Publikováno v:
Hypertension
Familial hyperkalemic hypertension is caused by pathogenic variants in genes of the CUL3 (cullin-3)-KLHL3 (kelch-like-family-member-3)-WNK (with no-lysine [K] kinase) pathway, manifesting clinically as hyperkalemia, metabolic acidosis, and high systo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eb7a3095c7cd774d418fccde5d5a7e36
https://pubmed.ncbi.nlm.nih.gov/34878897
https://pubmed.ncbi.nlm.nih.gov/34878897
Autor:
Anthony J. Asmar, Rita M. Yazejian, Youmei Wu, Jason C. Collins, Jenny Hsin, Jean Cho, Andrew D. Doyle, Samhitha Cinthala, Marleen Simon, Richard H. van Jaarsveld, David B. Beck, Laura Kerosuo, Achim Werner
The molecular mechanisms that coordinate patterning of the embryonic ectoderm into spatially distinct lineages to form the nervous system, epidermis, and craniofacial structures are unclear. Here, biochemical disease-variant profiling reveals a postt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::065fcd290b515775eeaef4e6fc6bee03
https://doi.org/10.1101/2022.09.26.509591
https://doi.org/10.1101/2022.09.26.509591
Autor:
Marcela A. Ferrada, Sinisa Savic, Daniela Ospina Cardona, Jason C. Collins, Hugh Alessi, Fernanda Gutierrez-Rodrigues, Dinesh Babu Uthaya Kumar, Lorena Wilson, Wendy Goodspeed, James S. Topilow, Julie J. Paik, James A. Poulter, Tanaz A. Kermani, Matthew J. Koster, Kenneth J. Warrington, Catherine Cargo, Rachel S. Tattersall, Christopher J. A. Duncan, Anna Cantor, Patrycja Hoffmann, Elspeth M. Payne, Hanna Bonnekoh, Karoline Krause, Edward W. Cowen, Katherine R. Calvo, Bhavisha A. Patel, Amanda K. Ombrello, Daniel L. Kastner, Neal S. Young, Achim Werner, Peter C. Grayson, David B. Beck
Somatic mutations in UBA1 cause vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory somatic (VEXAS) syndrome, an adult-onset inflammatory disease with an overlap of hematologic manifestations. VEXAS syndrome is characterized by a hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af8c674df36e5d2fbb8743262ff01d7b
https://eprints.whiterose.ac.uk/191042/1/106414_1_merged_1656075092.pdf
https://eprints.whiterose.ac.uk/191042/1/106414_1_merged_1656075092.pdf
Autor:
Sarthak Gupta, Amanda K. Ombrello, Emily Rominger, Megan Trick, Karyl S. Barron, Ryan S. Laird, Sinisa Savic, Shuichiro Nakabo, Daniela Ospina Cardona, Ivona Aksentijevich, Carmelo Carmona-Rivera, Gustaf Wigerblad, Mariana J. Kaplan, Emma M. Groarke, Laura W. Dillon, Chyi-Chia Richard Lee, Kalpana Manthiram, Kristina V. Wells, Nicholas Balanda, Zhijie Wu, Helen J. Lachmann, Daniel L. Kastner, Fernanda Gutierrez-Rodrigues, Achim Werner, Michele Nehrebecky, Lisha Xu, Alina Dulau-Florea, Wanxia L. Tsai, Bhavisha A Patel, Stefania Dell'Orso, Weixin Wang, Anthony J. Asmar, Danica Novacic, Katherine R. Calvo, David B. Beck, Robert A. Colbert, Massimo Gadina, William A. Gahl, Wendy Goodspeed, Natalie Deuitch, Dorota Rowczenio, Peter C. Grayson, Daron L. Ross, Sofia Rosenzweig, Anne Jones, Christopher S. Hourigan, James C. Mullikin, Stephen R. Brooks, Jason C. Collins, Wuhong Pei, May Christine V. Malicdan, Neal S. Young, Shawn M. Burgess, Keith A. Sikora, Mones Abu-Asab, Kyle Retterer, Patrycja Hoffmann, Hirotsugu Oda, Marcela A. Ferrada, Zuoming Deng, Benjamin D. Solomon, Jae Jin Chae
Publikováno v:
New England Journal of Medicine. 383:2628-2638
Background Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99ad8cf39fc35fb40359e43ad0eff90c
https://doi.org/10.1056/nejmoa2026834
https://doi.org/10.1056/nejmoa2026834
Autor:
Jason C Collins, Nicholas Balanda, Samuel J Magaziner, Maya English, Daniela Ospina Cardona, Mrinal M. Patnaik, Benjamin Terrier, Olivier Kosmider, Achim Werner, David B. Beck
Publikováno v:
Blood. 140:2914-2915
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3b43d21f25867fc64b48b40b5e17a0e
https://doi.org/10.1182/blood-2022-168031
https://doi.org/10.1182/blood-2022-168031
Autor:
David B, Beck, Marcela A, Ferrada, Keith A, Sikora, Amanda K, Ombrello, Jason C, Collins, Wuhong, Pei, Nicholas, Balanda, Daron L, Ross, Daniela, Ospina Cardona, Zhijie, Wu, Bhavisha, Patel, Kalpana, Manthiram, Emma M, Groarke, Fernanda, Gutierrez-Rodrigues, Patrycja, Hoffmann, Sofia, Rosenzweig, Shuichiro, Nakabo, Laura W, Dillon, Christopher S, Hourigan, Wanxia L, Tsai, Sarthak, Gupta, Carmelo, Carmona-Rivera, Anthony J, Asmar, Lisha, Xu, Hirotsugu, Oda, Wendy, Goodspeed, Karyl S, Barron, Michele, Nehrebecky, Anne, Jones, Ryan S, Laird, Natalie, Deuitch, Dorota, Rowczenio, Emily, Rominger, Kristina V, Wells, Chyi-Chia R, Lee, Weixin, Wang, Megan, Trick, James, Mullikin, Gustaf, Wigerblad, Stephen, Brooks, Stefania, Dell'Orso, Zuoming, Deng, Jae J, Chae, Alina, Dulau-Florea, May C V, Malicdan, Danica, Novacic, Robert A, Colbert, Mariana J, Kaplan, Massimo, Gadina, Sinisa, Savic, Helen J, Lachmann, Mones, Abu-Asab, Benjamin D, Solomon, Kyle, Retterer, William A, Gahl, Shawn M, Burgess, Ivona, Aksentijevich, Neal S, Young, Katherine R, Calvo, Achim, Werner, Daniel L, Kastner, Peter C, Grayson
Publikováno v:
Arthritis Rheumatol
Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders.We analyzed peripheral-blood exome sequence data in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8619cd7f680f820c748afb4ee52d1640
https://pubmed.ncbi.nlm.nih.gov/34463053
https://pubmed.ncbi.nlm.nih.gov/34463053
Publikováno v:
PLoS Biology, Vol 18, Iss 10, p e3000960 (2020)
[This corrects the article DOI: 10.1371/journal.pbio.3000329.].
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b304d335ac97299598bc7d7f39e843f
https://doaj.org/article/9e35026bcfc748ada69f6afb6ae1b7b0
https://doaj.org/article/9e35026bcfc748ada69f6afb6ae1b7b0