Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Ryan Murchie"'
Autor:
Julie E. Horowitz, Neil Warner, Jeffrey Staples, Eileen Crowley, Nehal Gosalia, Ryan Murchie, Cristopher Van Hout, Karoline Fiedler, Gabriel Welch, Alejandra Klauer King, Jeffrey G. Reid, John D. Overton, Aris Baras, Alan R. Shuldiner, Anne Griffiths, Omri Gottesman, Aleixo M. Muise, Claudia Gonzaga-Jauregui
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of the gastrointestinal tract in genetically susceptible hosts. Pediatric onset IBD
Externí odkaz:
https://doaj.org/article/1f5de0d61ecd4e8a964ff8857b3099dd
Autor:
Walter H. A. Kahr, Fred G. Pluthero, Abdul Elkadri, Neil Warner, Marko Drobac, Chang Hua Chen, Richard W. Lo, Ling Li, Ren Li, Qi Li, Cornelia Thoeni, Jie Pan, Gabriella Leung, Irene Lara-Corrales, Ryan Murchie, Ernest Cutz, Ronald M. Laxer, Julia Upton, Chaim M. Roifman, Rae S. M. Yeung, John H Brumell, Aleixo M Muise
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
ARPC1B is a component of the actin-related protein 2/3 complex (Arp2/3), which is required for actin filament branching. Kahret al. show that ARPC1B deficiency in humans is associated with severe multisystem disease that includes platelet abnormaliti
Externí odkaz:
https://doaj.org/article/eed6b90418cc417ea55ca5834ef97650
Autor:
Abdul Elkadri, Cornelia Thoeni, Sophie J. Deharvengt, Ryan Murchie, Conghui Guo, James D. Stavropoulos, Christian R. Marshall, Paul Wales, Robert H.J. Bandsma, Ernest Cutz, Chaim M. Roifman, David Chitayat, Yaron Avitzur, Radu V. Stan, Aleixo M. Muise
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 1, Iss 4, Pp 381-394.e7 (2015)
Background & Aims: Severe intestinal diseases observed in very young children are often the result of monogenic defects. We used whole-exome sequencing (WES) to examine genetics in a patient with a distinct severe form of protein-losing enteropathy (
Externí odkaz:
https://doaj.org/article/156f3c48a2bc4814be56d4fde008a9d5
Autor:
Nehal Gosalia, Cristopher V. Van Hout, John D. Overton, Omri Gottesman, Ryan Murchie, Aris Baras, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Gabriel Welch, Aleixo M. Muise, Jeffrey G. Reid, Julie E. Horowitz, Karoline Fiedler, Neil Warner, Anne M. Griffiths, Alejandra King, Eileen Crowley, Jeffrey Staples
Publikováno v:
Paediatrics Publications
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of the gastrointestinal tract in genetically susceptible hosts. Pediatric onset IBD represen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21923c551e5578f0d9e38862eb408d7b
https://ir.lib.uwo.ca/context/paedpub/article/2012/viewcontent/s41598_021_84938_8.pdf
https://ir.lib.uwo.ca/context/paedpub/article/2012/viewcontent/s41598_021_84938_8.pdf
Autor:
Emmanuel Lemichez, Brenda A. Schulman, Zhenyue Hao, Sachdev S. Sidhu, Nan Li, Ryan Murchie, Wei Zhang, Maria A. Sartori, Kuen-Phon Wu, Jason Moffat, John R. Walker, Avinash Persaud, Yi Sheng, Alban Ordureau, Jicheng Hu, Chong Jiang, Manjeet Mukherjee, Kevin R. Brown, Yufeng Tong, Yanjun Li, Junjie Chen, Anne Doye, Peter Y. Mercredi, Daniela Rotin, Hari B. Kamadurai, J. Wade Harper
Publikováno v:
Molecular Cell
Molecular Cell, Elsevier, 2016, 62 (1), pp.121-136. ⟨10.1016/j.molcel.2016.02.005⟩
Molecular Cell, Elsevier, 2016, 62 (1), pp.121-136. ⟨10.1016/j.molcel.2016.02.005⟩
Comment in : A Billion Ubiquitin Variants to Probe and Modulate the UPS. [Mol Cell. 2016]; International audience; HECT-family E3 ligases ubiquitinate protein substrates to control virtually every eukaryotic process and are misregulated in numerous d
Autor:
Nigel Sharfe, Karoline Fiedler, Ryan Murchie, Adi Ovadia, A. Muise, Cornelia Thoeni, Ellen A. Hamilton, Bo-Yee Ngan, Amit Nahum, Abdul Elkadri, Ernest Cutz, Chaim M. Roifman
Publikováno v:
LymphoSign Journal. 3:19-33
Introduction: Mutations in the signal transducer and activator of transcription1 (STAT1) have been associated with a variety of clinical patterns. Interestingly patients with heterozygous mutations in the DNA binding domain (DBD) of STAT1 suffer acut
BACKGROUND: ARPC1B-deficiency is a newly described genetic condition with an early age of onset and is clinically similar to Wiskott-Aldrich syndrome (WAS). Nearly all affected patients experience colitis that is eosinophilic in nature, and their imm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe84a8a9c125bb9900a411e58e02cbf9
https://europepmc.org/articles/PMC6508295/
https://europepmc.org/articles/PMC6508295/
BACKGROUND: Very early onset inflammatory bowel disease (VEOIBD) is a severe disease presenting in children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2693780d9d3bf739e8610a0ec42e837
https://europepmc.org/articles/PMC6508142/
https://europepmc.org/articles/PMC6508142/
Autor:
Chong Jiang, Ryan Murchie, Leo Nguyen, Lawrence Pelletier, Jason Moffat, Agata M. Trzcińska-Daneluti, Anthony Chen, Daniela Rotin
Publikováno v:
Molecular & Cellular Proteomics. 14:1569-1583
Cystic Fibrosis (CF) is an autosomal recessive disorder caused by mutations in the gene encoding the Cystic fibrosis transmembrane conductance regulator (CFTR). ΔF508-CFTR, the most common disease-causing CF mutant, exhibits folding and trafficking
Autor:
Ryan Murchie, Cheng Hiang Lee, Melanie Wong, Brigitte Santner Nanan, Rupert W. Leong, Ralph Nanan, Peter Hsu, Michael Stormon, Aleixo M. Muise, Kevin J. Gaskin
Publikováno v:
Journal of Crohn's and Colitis. 8:1551-1556
Background and aims: Defects in the interleukin 10 (IL-10) signalling pathway have been shown to cause very early onset inflammatory bowel disease (IBD). We report a patient with severe infantile-onset IBD with a compound heterozygous IL-10 receptor