Search
Results: 5119
Mouse large-scale phenotyping initiatives
Abdel Ayadi, Marie-Christine Birling, Joanna Bottomley, James Bussell, Helmut Fuchs, Martin Fray, Valérie Gailus-Durner, Simon Greenaway, Richard Houghton, Natasha Karp, Sophie Leblanc, Christoph Lengger, Holger Maier, Ann-Marie Mallon, Susan Marschall, David Melvin, Hugh Morgan, Guillaume Pavlovic, Ed Ryder, William C Skarnes, Mohammed Selloum, Ramiro Ramirez-Solis, Tania Sorg, Lydia Teboul, Laurent Vasseur, Alison Walling, Tom Weaver, Sara Wells, Jacqui K White, Allan Bradley, David J Adams, Karen P Steel, Martin Hrabě de Angelis, Steve D Brown, Yann Herault
Oct 14, 2020
Two large-scale phenotyping efforts, the European Mouse Disease Clinic (EUMODIC) and the Wellcome Trust Sanger Institute Mouse Genetics Project (SANGER-MGP), started during the late 2000s with the aim to deliver a comprehensive...
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.
Jacqueline K White, Anna-Karin Gerdin, Natasha A Karp, Ed Ryder, Marija Buljan, James N Bussell, Jennifer Salisbury, Simon Clare, Neil J Ingham, Christine Podrini, Richard Houghton, Jeanne Estabel, Joanna R Bottomley, David G Melvin, David Sunter, Niels C Adams, Sanger Institute Mouse Genetics Project, David Tannahill, Darren W Logan, Daniel G MacArthur, Jonathan Flint, Vinit B Mahajan, Stephen H Tsang, Ian Smyth, Fiona M Watt, William C Skarnes, Gordon Dougan, David J Adams, Ramiro Ramirez-Solis, Allan Bradley, Karen P Steel
Oct 14, 2020
Mutations in whole organisms are powerful ways of interrogating gene function in a realistic context. We describe a program, the Sanger Institute Mouse Genetics Project, that provides a step toward the aim of knocking out all...
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.
Tia DiTommaso, Lynelle K Jones, Denny L Cottle, WTSI Mouse Genetics Program, Anna-Karin Gerdin, Valerie E Vancollie, Fiona M Watt, Ramiro Ramirez-Solis, Allan Bradley, Karen P Steel, John P Sundberg, Jacqueline K White, Ian M Smyth
Oct 14, 2020
The skin is a highly regenerative organ which plays critical roles in protecting the body and sensing its environment. Consequently, morbidity and mortality associated with skin defects represent a significant health issue. To...
Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome.
Gabriel Balmus, Delphine Larrieu, Ana C Barros, Casey Collins, Monica Abrudan, Mukerrem Demir, Nicola J Geisler, Christopher J Lelliott, Jacqueline K White, Natasha A Karp, James Atkinson, Andrea Kirton, Matt Jacobsen, Dean Clift, Raphael Rodriguez, Sanger Mouse Genetics Project, David J Adams, Stephen P Jackson
Feb 09, 2018
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death. Cells from HGPS patients accumulate...
TV Novoselova, R Larder, D Rimmington, C Lelliott, EH Wynn, RJ Gorrigan, PH Tate, L Guasti, Sanger Mouse Genetics Project, S O'Rahilly, AJL Clark, DW Logan, AP Coll, LF Chan
May 05, 2016
AVP CRH MC4R MRAP2 OXT SIM1 TRH accessory protein melanocortin metabolism obesity Adaptor Proteins Signal Transducing Animals Anxiety Basic Helix-Loop-Helix Transcription Factors Behavior Animal Body Weight Cholesterol Corticotropin-Releasing Hormone Eating Energy Metabolism Lipid Metabolism Mice Mice Knockout Motor Activity Neurons Oxytocin Paraventricular Hypothalamic Nucleus Receptor Activity-Modifying Proteins Repressor Proteins Thyrotropin-Releasing Hormone
Exclusive dependence of IL-10Rα signalling on intestinal microbiota homeostasis and control of whipworm infection.
María A Duque-Correa, Natasha A Karp, Catherine McCarthy, Simon Forman, David Goulding, Geetha Sankaranarayanan, Timothy P Jenkins, Adam J Reid, Emma L Cambridge, Carmen Ballesteros Reviriego, Sanger Mouse Genetics Project, 3i consortium, Werner Müller, Cinzia Cantacessi, Gordon Dougan, Richard K Grencis, Matthew Berriman
Jan 21, 2019
The whipworm Trichuris trichiura is a soil-transmitted helminth that dwells in the epithelium of the caecum and proximal colon of their hosts causing the human disease, trichuriasis. Trichuriasis is characterized by colitis...
Consensus for genes to be included on cancer panel tests offered by UK genetics services
Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side, UK Cancer Genetics Group (UK-CGG)
May 18, 2018
Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited...
Myosin 10 is involved in murine pigmentation.
Kifayathullah Liakath-Ali, Valerie E Vancollie, Inês Sequeira, Christopher J Lelliott, Fiona M Watt
Feb 08, 2021
Myosins are molecular motors that are well known for their role in cell movement and contractile functions. Although extensively studied in muscle physiology, little is known about the function of myosins in mammalian skin. As...
The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia
Christel M Middeldorp, Janine F Felix, Anubha Mahajan, EArly Genetics Lifecourse Epidemiology (EAGLE) consortium, Early Growth Genetics (EGG) Consortium, Mark I McCarthy
Jul 18, 2019
The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as...
High-throughput discovery of genetic determinants of circadian misalignment.
Tao ZHANG, Pancheng Xie, Yingying Dong, Zhiwei Liu, Fei Zhou, Dejing Pan, Zhengyun Huang, Qiaocheng Zhai, Yue Gu, Qingyu Wu, Nobuhiko Tanaka, Yuichi Obata, Allan Bradley, Christopher J Lelliott, Sanger Institute Mouse Genetics Project, Lauryl MJ Nutter, Colin McKerlie, Ann M Flenniken, Marie-France Champy, Tania Sorg, Yann Herault, Martin Hrabe De Angelis, Valerie Gailus Durner, Ann-Marie Mallon, Steve DM Brown, Terry Meehan, Helen E Parkinson, Damian Smedley, KC Kent Lloyd, Jun Yan, Xiang Gao, Je Kyung Seong, Chi-Kuang Leo Wang, Radislav Sedlacek, Yi Liu, Jan Rozman, Ling Yang, Ying Xu
Oct 14, 2020
Circadian systems provide a fitness advantage to organisms by allowing them to adapt to daily changes of environmental cues, such as light/dark cycles. The molecular mechanism underlying the circadian clock has been well...
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Meghna Kannan, Efil Bayam, Christel Wagner, Bruno Rinaldi, Perrine F Kretz, Peggy Tilly, Marna Roos, Lara McGillewie, Séverine Bär, Shilpi Minocha, Claire Chevalier, Chrystelle Po, Sanger Mouse Genetics Project, Jamel Chelly, Jean-Louis Mandel, Renato Borgatti, Amélie Piton, Craig Kinnear, Ben Loos, David J Adams, Yann Hérault, Stephan C Collins, Sylvie Friant, Juliette D Godin, Binnaz Yalcin
Feb 24, 2021
The family of WD40-repeat (WDR) proteins is one of the largest in eukaryotes, but little is known about their function in brain development. Among 26 WDR genes assessed, we found 7 displaying a major impact in neuronal...
The National Institute for Health Research
V Goh, National Institute for Health Research Clinical Research Network Imaging Network Steering Group, Royal College of Radiologists' Academic Committee
Oct 01, 2019
Since the inception of the National Institute for Health Research (NIHR) in 2006, the landscape for the delivery of clinical research within the National Health Service (NHS) has been transformed. Clinical radiology has...
Clonal haematopoiesis is not prevalent in survivors of childhood cancer
G Collord, N Park, M Podestà, M Dagnino, D Cilloni, D Jones, I Varela, F Frassoni, GS Vassiliou
May 03, 2017
This project was funded by the Wellcome Trust Sanger Institute (grant number WT098051). G.S.V. is funded by a Wellcome Trust Senior Fellowship in Clinical Science (WT095663MA). F.F. is funded by Compagnia di San Paolo Grant: “Le...
Population genetics of mouse lemur vomeronasal receptors
BACKGROUND: A major effort is underway to use population genetic approaches to identify loci involved in adaptation. One issue that has so far received limited attention is whether loci that show a phylogenetic signal of...
Sedentary Behavior Research Network (SBRN) - Terminology Consensus Project process and outcome.
Mark S Tremblay, Salomé Aubert, Joel D Barnes, Travis J Saunders, Valerie Carson, Amy E Latimer-Cheung, Sebastien FM Chastin, Teatske M Altenburg, Mai JM Chinapaw, SBRN Terminology Consensus Project Participants
Jul 18, 2018
BACKGROUND: The prominence of sedentary behavior research in health science has grown rapidly. With this growth there is increasing urgency for clear, common and accepted terminology and definitions. Such standardization is...
Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene.
Simon Maguire, Jeanne Estabel, Neil Ingham, Selina Pearson, Edward Ryder, Damian M Carragher, Nicolas Walker, Sanger MGP Slc25a21 Project Team, James Bussell, Wai-In Chan, Thomas M Keane, David J Adams, Cheryl L Scudamore, Christopher J Lelliott, Ramiro Ramírez-Solis, Natasha A Karp, Karen P Steel, Jacqueline K White, Anna-Karin Gerdin
Feb 18, 2021
Homozygosity for Slc25a21(tm1a(KOMP)Wtsi) results in mice exhibiting orofacial abnormalities, alterations in carpal and rugae structures, hearing impairment and inflammation in the middle ear. In humans it has been hypothesised...
Alleles Animals Dicarboxylic Acid Transporters Exons Female Gene Expression Regulation Genetic Engineering Homozygote Humans Male Membrane Transport Proteins Mice Mice Knockout Mitochondrial Membrane Transport Proteins Mouth Abnormalities Mutation Otitis Media PAX9 Transcription Factor Paired Box Transcription Factors Signal Transduction
The African Genome Variation Project shapes medical genetics in Africa.
Deepti Gurdasani, Tommy Carstensen, Fasil Tekola-Ayele, Luca Pagani, Ioanna Tachmazidou, Konstantinos Hatzikotoulas, Savita Karthikeyan, Louise Iles, Martin O Pollard, Ananyo Choudhury, Graham RS Ritchie, Yali Xue, Jennifer Asimit, Rebecca N Nsubuga, Elizabeth H Young, Cristina Pomilla, Katja Kivinen, Kirk Rockett, Anatoli Kamali, Ayo P Doumatey, Gershim Asiki, Janet Seeley, Fatoumatta Sisay-Joof, Muminatou Jallow, Stephen Tollman, Ephrem Mekonnen, Rosemary Ekong, Tamiru Oljira, Neil Bradman, Kalifa Bojang, Michele Ramsay, Adebowale Adeyemo, Endashaw Bekele, Ayesha Motala, Shane A Norris, Fraser Pirie, Pontiano Kaleebu, Dominic Kwiatkowski, Chris Tyler-Smith, Charles Rotimi, Eleftheria Zeggini, Manjinder S Sandhu
Aug 15, 2018
Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to...
The Astropy Project
Abstract
The Astropy Project supports and fosters the development of open-source and openly developed Python packages that provide commonly needed...
A Zonca, AM Price-Whelan, PL Lim, N Earl, N Starkman, L Bradley, DL Shupe, AA Patil, L Corrales, CE Brasseur, M Nöthe, A Donath, E Tollerud, BM Morris, A Ginsburg, E Vaher, BA Weaver, J Tocknell, W Jamieson, MH van Kerkwijk, TP Robitaille, B Merry, M Bachetti, HM Günther, C Zhang, TL Aldcroft, JA Alvarado-Montes, AM Archibald, A Bódi, S Bapat, G Barentsen, J Bazán, M Biswas, M Boquien, DJ Burke, D Cara, M Cara, KE Conroy, S Conseil, MW Craig, RM Cross, KL Cruz, F D’Eugenio, N Dencheva, HAR Devillepoix, JP Dietrich, AD Eigenbrot, T Erben, L Ferreira, D Foreman-Mackey, R Fox, N Freij, S Garg, R Geda, L Glattly, Y Gondhalekar, KD Gordon, D Grant, P Greenfield, AM Groener, S Guest, S Gurovich, R Handberg, A Hart, Z Hatfield-Dodds, D Homeier, G Hosseinzadeh, T Jenness, CK Jones, P Joseph, JB Kalmbach, E Karamehmetoglu, M Kałuszyński, MSP Kelley, N Kern, WE Kerzendorf, EW Koch, S Kulumani, A Lee, C Ly, Z Ma, C MacBride, JM Maljaars, D Muna, NA Murphy, H Norman, R O’Steen, KA Oman, C Pacifici, S Pascual, J Pascual-Granado, RR Patil, GI Perren, TE Pickering, T Rastogi, BR Roulston, DF Ryan, ES Rykoff, J Sabater, P Sakurikar
Aug 24, 2022
The ‘ownership’ of science
Dr Catherine Rhodes is a research fellow at the Institute for Science, Ethics and Innovation specialising in the international regulations relevant to control of biotechnology. Professor John Harris is director of the Institute...
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative
Jan 05, 2022
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of...
Autoimmunity Body Mass Index covid-19 Critical Illness Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Geographic Mapping Hospitalization Host-Pathogen Interactions Humans Inflammation Information Dissemination Male Multifactorial Inheritance Racial Groups SARS-CoV-2 Smoking
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, International Mouse Phenotyping Consortium, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, KC Kent Lloyd, Ann M Flenniken, Lauryl MJ Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve DM Brown, Damian Smedley
Oct 22, 2020
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and...
Connecting Enterprise Architecture and Project Portfolio Management
Christof Gellweiler
Jan 01, 2020
Enterprise architecture (EA) and project portfolio management (PPM) are key areas when it comes to connecting enterprise strategy and information technology (IT) projects. Both management disciplines enhance business...
Published by: IGI Global Scientific Publishing
Francis Bacon, the Advocate of Science
Lord Adrian
Jan 01, 0001
Lord Adrian, Master of Trinity College, Cambridge and Visiting Professor in The Rockefeller Institute, presented this lecture at the Institute on April 19, 1961, in honor of the four hundredth anniversary of the birth of Sir...
Published by: The Rockefeller Institute Press
Welfare Genome Project
Yeonsu Jeon, Sungwon Jeon, Asta Blazyte, Yeo Jin Kim, Jasmin Junseo Lee, Youngjune Bhak, Yun Sung Cho, Yeshin Park, Eui-Kyu Noh, Andrea Manica, Jeremy S Edwards, Dan Bolser, Sukyeon Kim, Yuji Lee, Changhan Yoon, Semin Lee, Byung Chul Kim, Neung Hwa Park, Jong Bhak
Mar 08, 2021
The Welfare Genome Project (WGP) provided 1,000 healthy Korean volunteers with detailed genetic and health reports to test the social perception of integrating personal genetic and healthcare data at a large-scale. WGP was...
A EUROPEAN EDUCATION
Patricia Walsh
Dec 14, 2019
During the early twentieth century, a myriad of progressive movements would form in the United States to better the social status of women. These movements had rich roots in their European counterparts and often fed off the...
Published by: Department of History, University of Karachi
|
|< |
< |
1 |