Zobrazeno 1 - 10
of 188
pro vyhledávání: '"Matthew Page"'
Autor:
Dominik Aschenbrenner, Isar Nassiri, Suresh Venkateswaran, Sumeet Pandey, Matthew Page, Lauren Drowley, Martin Armstrong, Subra Kugathasan, Benjamin Fairfax, Holm H. Uhlig
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Despite major advances in linking single genetic variants to single causal genes, the significance of genetic variation on transcript-level regulation of expression, transcript-specific functions, and relevance to human disease has been poor
Externí odkaz:
https://doaj.org/article/a2f66ea234664d8faf2951ab66b8f269
Autor:
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
The protein SLITRK2 plays an important role in synaptic communication. This study identifies X-linked SLITRK2 variants that underlie neurodevelopmental disorders by impairing excitatory synapses.
Externí odkaz:
https://doaj.org/article/939b1e803648458f978aa0c525329996
Autor:
Flávia Silva, Amanda Rodrigues Amorim Adegboye, Carl Lachat, Cintia Curioni, Fabio Gomes, Gary S Collins, Gilberto Kac, Jennifer Anne de Beyer, Jonathan Cook, Leila Cheikh Ismail, Matthew Page, Neha Khandpur, Sarah Lamb, Sally Hopewell, Shona Kirtley, Solange Durão, Colby J Vorland, Michael M Schlussel
Publikováno v:
JMIR Research Protocols, Vol 12, p e43537 (2023)
BackgroundJournal articles describing randomized controlled trials (RCTs) and systematic reviews with meta-analysis of RCTs are not optimally reported and often miss crucial details. This poor reporting makes assessing these studies’ risk of bias o
Externí odkaz:
https://doaj.org/article/e34ec79f223e41ffa9f92c85a2e164ef
Publikováno v:
Telemedicine Reports, Vol 3, Iss 1, Pp 101-106 (2022)
Objective: This study investigated hospital-based specialist services that provide both traditional hospital outpatient appointments (in-person) or through a live videoconferencing session (telehealth) to referred patients. Referral letters submitted
Externí odkaz:
https://doaj.org/article/a8a14d5f8ef64b0f8922f2d7da8ac237
Autor:
Jake P Mann, Xiaowen Duan, Satish Patel, Luis Carlos Tábara, Fabio Scurria, Anna Alvarez-Guaita, Afreen Haider, Ineke Luijten, Matthew Page, Margherita Protasoni, Koini Lim, Sam Virtue, Stephen O'Rahilly, Martin Armstrong, Julien Prudent, Robert K Semple, David B Savage
Publikováno v:
eLife, Vol 12 (2023)
Mitochondrial dysfunction has been reported in obesity and insulin resistance, but primary genetic mitochondrial dysfunction is generally not associated with these, arguing against a straightforward causal relationship. A rare exception, recently ide
Externí odkaz:
https://doaj.org/article/10fcb30f48a744fd966e20290cf355fb
Publikováno v:
PeerJ, Vol 10, p e14516 (2022)
Dynamic modelling has considerably improved our understanding of complex molecular mechanisms. Ordinary differential equations (ODEs) are the most detailed and popular approach to modelling the dynamics of molecular systems. However, their applicatio
Externí odkaz:
https://doaj.org/article/2b08a6ec17a1466f930b987be94198ea
Autor:
Katie O’Hearn, Cameron MacDonald, Anne Tsampalieros, Leo Kadota, Ryan Sandarage, Supun Kotteduwa Jayawarden, Michele Datko, John M. Reynolds, Thanh Bui, Shagufta Sultan, Margaret Sampson, Misty Pratt, Nick Barrowman, Nassr Nama, Matthew Page, James Dayre McNally
Publikováno v:
BMC Medical Research Methodology, Vol 21, Iss 1, Pp 1-12 (2021)
Abstract Background Standard practice for conducting systematic reviews (SRs) is time consuming and involves the study team screening hundreds or thousands of citations. As the volume of medical literature grows, the citation set sizes and correspond
Externí odkaz:
https://doaj.org/article/40a00d09e2cc4f4797769b2e0b3a8afb
Autor:
Jérôme Hadjadj, Carla Noemi Castro, Maud Tusseau, Marie-Claude Stolzenberg, Fabienne Mazerolles, Nathalie Aladjidi, Martin Armstrong, Houman Ashrafian, Ioana Cutcutache, Georg Ebetsberger-Dachs, Katherine S. Elliott, Isabelle Durieu, Nicole Fabien, Mathieu Fusaro, Maximilian Heeg, Yohan Schmitt, Marc Bras, Julian C. Knight, Jean-Christophe Lega, Gaetan Lesca, Anne-Laure Mathieu, Marion Moreews, Baptiste Moreira, Audrey Nosbaum, Matthew Page, Cécile Picard, T. Ronan Leahy, Isabelle Rouvet, Ethel Ryan, Damien Sanlaville, Klaus Schwarz, Andrew Skelton, Jean-Francois Viallard, Sebastien Viel, Marine Villard, Isabelle Callebaut, Capucine Picard, Thierry Walzer, Stephan Ehl, Alain Fischer, Bénédicte Neven, Alexandre Belot, Frédéric Rieux-Laucat
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoi
Externí odkaz:
https://doaj.org/article/e099b2415a024179917630ee4d4f2ec2
Autor:
Raju Kanukula, Matthew Page, Kerry Dwan, Simon Turner, Elizabeth Loder, Evan Mayo-Wilson, Tianjing Li, Adya Misra, Steve McDonald, Andrew Forbes, Joanne McKenzie
Publikováno v:
F1000Research, Vol 10 (2021)
Background: Systematic reviews underpin clinical practice and policies that guide healthcare decisions. A core component of many systematic reviews is meta-analysis, which is a statistical synthesis of results across studies. Errors in the conduct an
Externí odkaz:
https://doaj.org/article/13043dbf56f24b7a93c1bc51afb33b99
Autor:
Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alex Rossor, Rebecca J Brown, Simeon I Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimir Saudek, Stephen O’Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple
Publikováno v:
eLife, Vol 6 (2017)
MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg7
Externí odkaz:
https://doaj.org/article/bd9713c499934b789398647d22d67ee5