Zobrazeno 1 - 10
of 216
pro vyhledávání: '"J Nutter"'
Autor:
Hillary Elrick, Kevin A. Peterson, Brandon J. Willis, Denise G. Lanza, Elif F. Acar, Edward J. Ryder, Lydia Teboul, Petr Kasparek, Marie-Christine Birling, David J. Adams, Allan Bradley, Robert E. Braun, Steve D. Brown, Adam Caulder, Gemma F. Codner, Francesco J. DeMayo, Mary E. Dickinson, Brendan Doe, Graham Duddy, Marina Gertsenstein, Leslie O. Goodwin, Yann Hérault, Lauri G. Lintott, K. C. Kent Lloyd, Isabel Lorenzo, Matthew Mackenzie, Ann-Marie Mallon, Colin McKerlie, Helen Parkinson, Ramiro Ramirez-Solis, John R. Seavitt, Radislav Sedlacek, William C. Skarnes, Damien Smedley, Sara Wells, Jacqueline K. White, Joshua A. Wood, International Mouse Phenotyping Consortium, Stephen A. Murray, Jason D. Heaney, Lauryl M. J. Nutter
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract The International Mouse Phenotyping Consortium (IMPC) systematically produces and phenotypes mouse lines with presumptive null mutations to provide insight into gene function. The IMPC now uses the programmable RNA-guided nuclease Cas9 for i
Externí odkaz:
https://doaj.org/article/0788cc9d0e59472c90243baecc221f96
Autor:
Lydia Teboul, James Amos-Landgraf, Fernando J. Benavides, Marie-Christine Birling, Steve D. M. Brown, Elizabeth Bryda, Rosie Bunton-Stasyshyn, Hsian-Jean Chin, Martina Crispo, Fabien Delerue, Michael Dobbie, Craig L. Franklin, Ernst-Martin Fuchtbauer, Xiang Gao, Christelle Golzio, Rebecca Haffner, Yann Hérault, Martin Hrabe de Angelis, Kevin C. Kent Lloyd, Terry R. Magnuson, Lluis Montoliu, Stephen A. Murray, Ki-Hoan Nam, Lauryl M. J. Nutter, Eric Pailhoux, Fernando Pardo Manuel de Villena, Kevin Peterson, Laura Reinholdt, Radislav Sedlacek, Je Kyung Seong, Toshihiko Shiroishi, Cynthia Smith, Toru Takeo, Louise Tinsley, Jean-Luc Vilotte, Søren Warming, Sara Wells, C. Bruce Whitelaw, Atsushi Yoshiki, Asian Mouse Mutagenesis Resource Association, CELPHEDIA infrastructure, INFRAFRONTIER consortium, International Mammalian Genome Society, International Mouse Phenotyping Consortium, International Society for Transgenic Technologies, Mutant Mouse Resource and Research Centers, Phenomics Australia, RRRC- Rat Resource and Research Center, Guillaume Pavlovic
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-8 (2024)
Abstract The biomedical research community addresses reproducibility challenges in animal studies through standardized nomenclature, improved experimental design, transparent reporting, data sharing, and centralized repositories. The ARRIVE guideline
Externí odkaz:
https://doaj.org/article/81e4d92fe0424d7c9017a0c563ae6724
Autor:
Sarah A. Michaud, Helena Pětrošová, Nicholas J. Sinclair, Andrea L. Kinnear, Angela M. Jackson, Jamie C. McGuire, Darryl B. Hardie, Pallab Bhowmick, Milan Ganguly, Ann M. Flenniken, Lauryl M. J. Nutter, Colin McKerlie, Derek Smith, Yassene Mohammed, David Schibli, Albert Sickmann, Christoph H. Borchers
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-12 (2024)
Abstract Mouse is the mammalian model of choice to study human health and disease due to its size, ease of breeding and the natural occurrence of conditions mimicking human pathology. Here we design and validate multiple reaction monitoring mass spec
Externí odkaz:
https://doaj.org/article/2609ea2007ea4af7ba418d2b5f7ec603
Autor:
Kevin A. Peterson, Sam Khalouei, Nour Hanafi, Joshua A. Wood, Denise G. Lanza, Lauri G. Lintott, Brandon J. Willis, John R. Seavitt, Robert E. Braun, Mary E. Dickinson, Jacqueline K. White, K. C. Kent Lloyd, Jason D. Heaney, Stephen A. Murray, Arun Ramani, Lauryl M. J. Nutter
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-10 (2023)
Abstract Genome editing with CRISPR-associated (Cas) proteins holds exceptional promise for “correcting” variants causing genetic disease. To realize this promise, off-target genomic changes cannot occur during the editing process. Here, we use w
Externí odkaz:
https://doaj.org/article/f7798291f4934fd091966e0b3ee6f881
Autor:
Justine M. Chee, Louise Lanoue, Dave Clary, Kendall Higgins, Lynette Bower, Ann Flenniken, Ruolin Guo, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, H.-J. Genie Chin, Mary E. Dickinson, Chih-Wei Hsu, Michael Dobbie, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Fabio Mammano, Lauryl M. J. Nutter, Helen Parkinson, Chuan Qin, Toshi Shiroishi, Radislav Sedlacek, J-K Seong, Ying Xu, The International Mouse Phenotyping Consortium, Brian Brooks, Colin McKerlie, K. C. Kent Lloyd, Henrik Westerberg, Ala Moshiri
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-15 (2023)
Abstract Background Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be herita
Externí odkaz:
https://doaj.org/article/f36d8250a6ce4896a0f38551711ec1ef
Autor:
Kendall Higgins, Bret A. Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann M. Flenniken, Andy Shao, Denise M. Imai, Dave Clary, Louise Lanoue, Susan Newbigging, Lauryl M. J. Nutter, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, Mary E. Dickinson, Michael Dobbie, Paul Flicek, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Hsian-Jean Genie Chin, Fabio Mammano, Chuan Qin, Toshihiko Shiroishi, Radislav Sedlacek, J.-K. Seong, Ying Xu, The IMPC Consortium, K. C. Kent Lloyd, Colin McKerlie, Ala Moshiri
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
Abstract We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse lines with both ocular and renal or
Externí odkaz:
https://doaj.org/article/c0d5d5cc412449dba2430740f3a4e375
Autor:
Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz-Fuentes, Chih-Wei Hsu, Ignatia B. Van den Veyver, Ann M. Flenniken, Colin McKerlie, Stephen A. Murray, Lydia Teboul, Jason D. Heaney, K. C. Kent Lloyd, Louise Lanoue, Robert E. Braun, Jacqueline K. White, Amie K. Creighton, Valerie Laurin, Ruolin Guo, Dawei Qu, Sara Wells, James Cleak, Rosie Bunton-Stasyshyn, Michelle Stewart, Jackie Harrisson, Jeremy Mason, Hamed Haseli Mashhadi, Helen Parkinson, Ann-Marie Mallon, International Mouse Phenotyping Consortium, Genomics England Research Consortium, Damian Smedley
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
Abstract Background The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is p
Externí odkaz:
https://doaj.org/article/412d46fbccfd45569d9db0ede072d45d
Autor:
Ying Zhang, Dinesh K. Barupal, Sili Fan, Bei Gao, Chao Zhu, Ann M. Flenniken, Colin McKerlie, Lauryl M. J. Nutter, Kevin C. Kent Lloyd, Oliver Fiehn
Publikováno v:
Metabolites, Vol 13, Iss 8, p 947 (2023)
Although metabolic alterations are observed in many monogenic and complex genetic disorders, the impact of most mammalian genes on cellular metabolism remains unknown. Understanding the effect of mouse gene dysfunction on metabolism can inform the fu
Externí odkaz:
https://doaj.org/article/9147c1f49c814d45a4020b711d579a3d
Autor:
Yassene Mohammed, Sarah A. Michaud, Helena Pětrošová, Juncong Yang, Milan Ganguly, David Schibli, Ann M. Flenniken, Lauryl M. J. Nutter, Hibret A. Adissu, K. C. Kent Lloyd, Colin McKerlie, Christoph H. Borchers
Publikováno v:
npj Systems Biology and Applications, Vol 7, Iss 1, Pp 1-23 (2021)
Abstract We proteotyped blood plasma from 30 mouse knockout strains and corresponding wild-type mice from the International Mouse Phenotyping Consortium. We used targeted proteomics with internal standards to quantify 375 proteins in 218 samples. Our
Externí odkaz:
https://doaj.org/article/72bd932c9079468a9baf2be34f40d25f
Autor:
J. Ellegood, S. P. Petkova, A. Kinman, L. R. Qiu, A. Adhikari, A. A. Wade, D. Fernandes, Z. Lindenmaier, A. Creighton, L. M. J. Nutter, A. S. Nord, J. L. Silverman, J. P. Lerch
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-24 (2021)
Abstract Background One of the causal mechanisms underlying neurodevelopmental disorders (NDDs) is chromatin modification and the genes that regulate chromatin. AT-rich interactive domain 1B (ARID1B), a chromatin modifier, has been linked to autism s
Externí odkaz:
https://doaj.org/article/0fe323d806e84f1b82cf980dfb9bea70