日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome

核因子 I/X (NFIX) 基因移码突变的小鼠模型具有马歇尔-史密斯综合征的表型特征

Kooblall, Kreepa G; Stevenson, Mark; Stewart, Michelle; Harris, Lachlan; Zalucki, Oressia; Dewhurst, Hannah; Butterfield, Natalie; Leng, Houfu; Hough, Tertius A; Ma, Da; Siow, Bernard; Potter, Paul; Cox, Roger D; Brown, Stephen D M; Horwood, Nicole; Wright, Benjamin; Lockstone, Helen; Buck, David; Vincent, Tonia L; Hannan, Fadil M; Bassett, J H Duncan; Williams, Graham R; Lines, Kate E; Piper, Michael; Wells, Sara; Teboul, Lydia; Hennekam, Raoul C; Thakker, Rajesh V

Human and mouse essentiality screens as a resource for disease gene discovery

人类和小鼠必需基因筛选作为疾病基因发现的资源

Cacheiro, Pilar; Muñoz-Fuentes, Violeta; Murray, Stephen A; Dickinson, Mary E; Bucan, Maja; Nutter, Lauryl M J; Peterson, Kevin A; Haselimashhadi, Hamed; Flenniken, Ann M; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G; Beaudet, Arthur L; Heaney, Jason D; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J; Seavitt, John R; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabě; Mallon, Ann-Marie; Lloyd, K C Kent; Brown, Steve D M; Parkinson, Helen; Meehan, Terrence F; Smedley, Damian

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

对Sox3和uc482基因缺失小鼠的研究:与X连锁甲状旁腺功能减退症的相关性

Gaynor, Katherine U; Grigorieva, Irina V; Mirczuk, Samantha M; Piret, Sian E; Kooblall, Kreepa G; Stevenson, Mark; Rizzoti, Karine; Bowl, Michael R; Nesbit, M Andrew; Christie, Paul T; Fraser, William D; Hough, Tertius; Whyte, Michael P; Lovell-Badge, Robin; Thakker, Rajesh V

An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice

N-乙基-N-亚硝基脲(ENU)诱导的DNA聚合酶辅助亚基γ2(Polg2)Tyr265终止突变与小鼠肾脏钙化相关

Gorvin, Caroline M; Ahmad, Bushra N; Stechman, Michael J; Loh, Nellie Y; Hough, Tertius A; Leo, Paul; Marshall, Mhairi; Sethi, Siddharth; Bentley, Liz; Piret, Sian E; Reed, Anita; Jeyabalan, Jeshmi; Christie, Paul T; Wells, Sara; Simon, Michelle M; Mallon, Ann-Marie; Schulz, Herbert; Huebner, Norbert; Brown, Matthew A; Cox, Roger D; Brown, Steve D; Thakker, Rajesh V

Identification of genetic elements in metabolism by high-throughput mouse phenotyping

利用高通量小鼠表型分析鉴定代谢中的遗传元件

Rozman, Jan; Rathkolb, Birgit; Oestereicher, Manuela A; Schütt, Christine; Ravindranath, Aakash Chavan; Leuchtenberger, Stefanie; Sharma, Sapna; Kistler, Martin; Willershäuser, Monja; Brommage, Robert; Meehan, Terrence F; Mason, Jeremy; Haselimashhadi, Hamed; Hough, Tertius; Mallon, Ann-Marie; Wells, Sara; Santos, Luis; Lelliott, Christopher J; White, Jacqueline K; Sorg, Tania; Champy, Marie-France; Bower, Lynette R; Reynolds, Corey L; Flenniken, Ann M; Murray, Stephen A; Nutter, Lauryl M J; Svenson, Karen L; West, David; Tocchini-Valentini, Glauco P; Beaudet, Arthur L; Bosch, Fatima; Braun, Robert B; Dobbie, Michael S; Gao, Xiang; Herault, Yann; Moshiri, Ala; Moore, Bret A; Kent Lloyd, K C; McKerlie, Colin; Masuya, Hiroshi; Tanaka, Nobuhiko; Flicek, Paul; Parkinson, Helen E; Sedlacek, Radislav; Seong, Je Kyung; Wang, Chi-Kuang Leo; Moore, Mark; Brown, Steve D; Tschöp, Matthias H; Wurst, Wolfgang; Klingenspor, Martin; Wolf, Eckhard; Beckers, Johannes; Machicao, Fausto; Peter, Andreas; Staiger, Harald; Häring, Hans-Ulrich; Grallert, Harald; Campillos, Monica; Maier, Holger; Fuchs, Helmut; Gailus-Durner, Valerie; Werner, Thomas; Hrabe de Angelis, Martin

Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing

利用超低覆盖度测序技术对近交系小鼠的多种复杂性状进行全基因组关联分析

Nicod, Jérôme; Davies, Robert W; Cai, Na; Hassett, Carl; Goodstadt, Leo; Cosgrove, Cormac; Yee, Benjamin K; Lionikaite, Vikte; McIntyre, Rebecca E; Remme, Carol Ann; Lodder, Elisabeth M; Gregory, Jennifer S; Hough, Tertius; Joynson, Russell; Phelps, Hayley; Nell, Barbara; Rowe, Clare; Wood, Joe; Walling, Alison; Bopp, Nasrin; Bhomra, Amarjit; Hernandez-Pliego, Polinka; Callebert, Jacques; Aspden, Richard M; Talbot, Nick P; Robbins, Peter A; Harrison, Mark; Fray, Martin; Launay, Jean-Marie; Pinto, Yigal M; Blizard, David A; Bezzina, Connie R; Adams, David J; Franken, Paul; Weaver, Tom; Wells, Sara; Brown, Steve D M; Potter, Paul K; Klenerman, Paul; Lionikas, Arimantas; Mott, Richard; Flint, Jonathan

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

通过小鼠诱变筛选揭示了与年龄相关疾病模型的新基因功能

Potter, Paul K; Bowl, Michael R; Jeyarajan, Prashanthini; Wisby, Laura; Blease, Andrew; Goldsworthy, Michelle E; Simon, Michelle M; Greenaway, Simon; Michel, Vincent; Barnard, Alun; Aguilar, Carlos; Agnew, Thomas; Banks, Gareth; Blake, Andrew; Chessum, Lauren; Dorning, Joanne; Falcone, Sara; Goosey, Laurence; Harris, Shelley; Haynes, Andy; Heise, Ines; Hillier, Rosie; Hough, Tertius; Hoslin, Angela; Hutchison, Marie; King, Ruairidh; Kumar, Saumya; Lad, Heena V; Law, Gemma; MacLaren, Robert E; Morse, Susan; Nicol, Thomas; Parker, Andrew; Pickford, Karen; Sethi, Siddharth; Starbuck, Becky; Stelma, Femke; Cheeseman, Michael; Cross, Sally H; Foster, Russell G; Jackson, Ian J; Peirson, Stuart N; Thakker, Rajesh V; Vincent, Tonia; Scudamore, Cheryl; Wells, Sara; El-Amraoui, Aziz; Petit, Christine; Acevedo-Arozena, Abraham; Nolan, Patrick M; Cox, Roger; Mallon, Anne-Marie; Brown, Steve D M

Exploring the Lean Phenotype of Glutathione-Depleted Mice: Thiol, Amino Acid and Fatty Acid Profiles

探索谷胱甘肽缺乏小鼠的瘦弱表型:硫醇、氨基酸和脂肪酸谱

Elshorbagy, Amany K; Jernerén, Fredrik; Scudamore, Cheryl L; McMurray, Fiona; Cater, Heather; Hough, Tertius; Cox, Roger; Refsum, Helga

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

通过由多家小鼠诊所组成的联盟开展的广泛表型筛选,分析哺乳动物基因功能

de Angelis, Martin Hrabě; Nicholson, George; Selloum, Mohammed; White, Jacqui; Morgan, Hugh; Ramirez-Solis, Ramiro; Sorg, Tania; Wells, Sara; Fuchs, Helmut; Fray, Martin; Adams, David J; Adams, Niels C; Adler, Thure; Aguilar-Pimentel, Antonio; Ali-Hadji, Dalila; Amann, Gregory; André, Philippe; Atkins, Sarah; Auburtin, Aurelie; Ayadi, Abdel; Becker, Julien; Becker, Lore; Bedu, Elodie; Bekeredjian, Raffi; Birling, Marie-Christine; Blake, Andrew; Bottomley, Joanna; Bowl, Mike; Brault, Véronique; Busch, Dirk H; Bussell, James N; Calzada-Wack, Julia; Cater, Heather; Champy, Marie-France; Charles, Philippe; Chevalier, Claire; Chiani, Francesco; Codner, Gemma F; Combe, Roy; Cox, Roger; Dalloneau, Emilie; Dierich, André; Di Fenza, Armida; Doe, Brendan; Duchon, Arnaud; Eickelberg, Oliver; Esapa, Chris T; El Fertak, Lahcen; Feigel, Tanja; Emelyanova, Irina; Estabel, Jeanne; Favor, Jack; Flenniken, Ann; Gambadoro, Alessia; Garrett, Lilian; Gates, Hilary; Gerdin, Anna-Karin; Gkoutos, George; Greenaway, Simon; Glasl, Lisa; Goetz, Patrice; Da Cruz, Isabelle Goncalves; Götz, Alexander; Graw, Jochen; Guimond, Alain; Hans, Wolfgang; Hicks, Geoff; Hölter, Sabine M; Höfler, Heinz; Hancock, John M; Hoehndorf, Robert; Hough, Tertius; Houghton, Richard; Hurt, Anja; Ivandic, Boris; Jacobs, Hughes; Jacquot, Sylvie; Jones, Nora; Karp, Natasha A; Katus, Hugo A; Kitchen, Sharon; Klein-Rodewald, Tanja; Klingenspor, Martin; Klopstock, Thomas; Lalanne, Valerie; Leblanc, Sophie; Lengger, Christoph; le Marchand, Elise; Ludwig, Tonia; Lux, Aline; McKerlie, Colin; Maier, Holger; Mandel, Jean-Louis; Marschall, Susan; Mark, Manuel; Melvin, David G; Meziane, Hamid; Micklich, Kateryna; Mittelhauser, Christophe; Monassier, Laurent; Moulaert, David; Muller, Stéphanie; Naton, Beatrix; Neff, Frauke; Nolan, Patrick M; Nutter, Lauryl Mj; Ollert, Markus; Pavlovic, Guillaume; Pellegata, Natalia S; Peter, Emilie; Petit-Demoulière, Benoit; Pickard, Amanda; Podrini, Christine; Potter, Paul; Pouilly, Laurent; Puk, Oliver; Richardson, David; Rousseau, Stephane; Quintanilla-Fend, Leticia; Quwailid, Mohamed M; Racz, Ildiko; Rathkolb, Birgit; Riet, Fabrice; Rossant, Janet; Roux, Michel; Rozman, Jan; Ryder, Ed; Salisbury, Jennifer; Santos, Luis; Schäble, Karl-Heinz; Schiller, Evelyn; Schrewe, Anja; Schulz, Holger; Steinkamp, Ralf; Simon, Michelle; Stewart, Michelle; Stöger, Claudia; Stöger, Tobias; Sun, Minxuan; Sunter, David; Teboul, Lydia; Tilly, Isabelle; Tocchini-Valentini, Glauco P; Tost, Monica; Treise, Irina; Vasseur, Laurent; Velot, Emilie; Vogt-Weisenhorn, Daniela; Wagner, Christelle; Walling, Alison; Weber, Bruno; Wendling, Olivia; Westerberg, Henrik; Willershäuser, Monja; Wolf, Eckhard; Wolter, Anne; Wood, Joe; Wurst, Wolfgang; Yildirim, Ali Önder; Zeh, Ramona; Zimmer, Andreas; Zimprich, Annemarie; Holmes, Chris; Steel, Karen P; Herault, Yann; Gailus-Durner, Valérie; Mallon, Ann-Marie; Brown, Steve Dm

Loss of arylformamidase with reduced thymidine kinase expression leads to impaired glucose tolerance

芳基甲酰胺酶的缺失以及胸苷激酶表达的降低会导致葡萄糖耐量受损。

Hugill, Alison J; Stewart, Michelle E; Yon, Marianne A; Probert, Fay; Cox, I Jane; Hough, Tertius A; Scudamore, Cheryl L; Bentley, Liz; Wall, Gary; Wells, Sara E; Cox, Roger D