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56. Using research to prepare for outbreaks of severe acute respiratory infection

Author

Mich, V. (Vann), Pho, Y. (Yaty), Bory, S. (Sotharith), Vann, M. (Mich), Teav, B. (Bunlor), Som, L. (Leakhann), Jarrvisalo, M. J. (Mikko J.), Pulkkinen, A. (Anni), Kuitunen, A. (Anne), Ala-kokko, T. (Tero), Melto, S. (Sari), Daix, T. (Thomas), Philippart, F. (Francois), Antoine, M. (Marchalot), Tiercelet, K. (Kelly), Bruel, C. (Cedric), Nicholas, S. (Sedillot), Siami, S. (Shidasp), Fabienne, T. (Taimon), Bruyere, R. (Raomi), Forceville, X. (Xavier), Erickson, S. (Simon), Campbell, L. (Lewis), Sonawane, R. (Ravikiran), Santamaria, J. (John), Kol, M. (Mark), Awasthi, S. (Shally), Powis, J. (Jeff), Hall, R. (Richard), McCarthy, A. E. (Anne E.), Jouvet, P. (Philippe), Opaysky, M. A. (Mary Anne), Gilfoyle, E. (Elaine), Farshait, N. (Nataly), Martin, D.-A. (Dori-Ann), Griesdale, D. (Donald), Katz, K. (Kevin), Ruberto, A. J. (Aaron J.), Carrier, F. M. (Francois Martin), Lamontagne, F. (Francois), Muscedere, J. (John), Rishu, A. (Asgar), Sin, W. C. (Wai Ching), Ngai, W. C. (Wallace Chun Wai), Young, P. (Paul), Forrest, A. (Annette), Kazemi, A. (Alex), Henderson, S. (Seton), Browne, T. (Troy), Ganeshalingham, A. (Anusha), McConnochie, R. (Rachael), Cho, J. H. (Jae Hwa), Park, T. S. (Tai Sun), Sim, Y. S. (Yun Su), Chang, Y. (Youjin), Lee, H. B. (Heung Bum), Park, S. Y. (Seung Yong), Chan, W. M. (Wai Ming), Lee, W.-Y. (Won-Yeon), Wallace, D. J. (David J.), Angus, D. C. (Derek C.), Charles, A. G. (Anthony G.), van Doom, H. R. (H. Rogier), Prin, M. (Meghan), Twagirumugabe, T. (Theogene), Umuhire, O. F. (Olivier Felix), Sylvain, H. (Habarurema), Al Qasim, E. (Eman), Heraud, J.-M. (Jean-Michel), Raberahona, M. (Mihaja), Rabarison, J. H. (Joelinotahiana Hasina), Patrigeon, S. P. (Santiago Perez), Ramirez-Venegas, A. (Alejandra), Melendez, J. A. (Javier Araujo), Guerrero, M. L. (M. Lourdes), Mambule, I. (Ivan), Ochieng, O. G. (Otieno George), Nadjm, B. (Behzad), Li, I. W. (Iris Wai Sum), Choi, W.-I. (Won-Il), Florence, K.-P. (Komurian-Pradel), Arabi, Y. M. (Yaseen M.), West, T. E. (T. Eoin), Riviello, E. D. (Elisabeth D.), Parke, R. (Rachael), Djillali, A. E. (Annane E.), Fowler, R. (Robert), Murthy, S. (Srinivas), Nichol, A. (Alistair), Cheng, A. C. (Allen C.), Semple, C. (Calum), George, M. (Maya), Valkonen, M. (Miia), McArthur, C. (Colin), Carson, G. (Gail), O'Neill, G. (Genevieve), Cobb, J. P. (J. Perren), Dunning, J. (Jake), Chiche, J.-D. (Jean-Daniel), Huh, J.-W. (Jin-Won), Marshall, J. (John), Rello, J. (Jordi), Guillebaud, J. (Julia), Razanazatovo, N. (Norosoa), Otieno, J. W. (Juilett Wambura), Green, K. (Karen), Rowan, K. (Kathy), Baillie, J. K. (John Kenneth), Merson, L. (Laura), Hsu, L. Y. (Li Yang), Christian, M. D. (Michael D.), Egi, M. (Moritoki), Shindo, N. (Nahoko), Horby, P. (Peter), Pardinaz-Solis, R. (Raul), Ubiergo, S. U. (Sebastian Ugarte), Webb, S. A. (Steve A. R.), Uyeki, T. M. (Timothy M.), Gordon, A. C. (Anthony C.), Paterson, D. L. (David L.), Everett, D. (Dean), Giamarellos-Bourboulis, E. J. (Evangelos J.), Longuere, K.-S. (Kajsa-Stina), Maslove, D. (David), Ohuma, E. (Eric), Growl, G. (Gloria), PedutemHumber, T. (Theresa), EllazarHumber, E. (Edward), Bahinskaya, I. (Ilona), Osbourne-Townsend, J. (Joan), Bentley, A. (Andrew), Goodson, J. (Jennifer), Welters, I. (Ingeborg), Malik, N. (Nadia), Browne, T. S. (T. S.), and Mahesh, V. (Vinaya)

Abstract

Severe acute respiratory infections (SARI) remain one of the leading causes of mortality around the world in all age groups. There is large global variation in epidemiology, clinical management and outcomes, including mortality. We performed a short period observational data collection in critical care units distributed globally during regional peak SARI seasons from 1 January 2016 until 31 August 2017, using standardised data collection tools. Data were collected for 1 week on all admitted patients who met the inclusion criteria for SARI, with follow-up to hospital discharge. Proportions of patients across regions were compared for microbiology, management strategies and outcomes. Regions were divided geographically and economically according to World Bank definitions. Data were collected for 682 patients from 95 hospitals and 23 countries. The overall mortality was 9.5%. Of the patients, 21.7% were children, with case fatality proportions of 1% for those less than 5 years. The highest mortality was in those above 60 years, at 18.6%. Case fatality varied by region: East Asia and Pacific 10.2% (21 of 206), Sub-Saharan Africa 4.3% (8 of 188), South Asia 0% (0 of 35), North America 13.6% (25 of 184), and Europe and Central Asia 14.3% (9 of 63). Mortality in low-income and low-middle-income countries combined was 4% as compared with 14% in high-income countries. Organ dysfunction scores calculated on presentation in 560 patients where full data were available revealed Sequential Organ Failure Assessment (SOFA) scores on presentation were significantly associated with mortality and hospital length of stay. Patients in East Asia and Pacific (48%) and North America (24%) had the highest SOFA scores of >12. Multivariable analysis demonstrated that initial SOFA score and age were independent predictors of hospital survival. There was variability across regions and income groupings for the critical care management and outcomes of SARI. Intensive care unit-specific factors, geography and management features were less reliable than baseline severity for predicting ultimate outcome. These findings may help in planning future outbreak severity assessments, but more globally representative data are required.

Published
2019

65. INFRAFRONTIER-providing mutant mouse resources as research tools for the international scientific community

Author

Meehan, TF, Chen, CK, Koscielny, G, Relac, M, Wilkinson, P, Flicek, P, Parkinson, H, Castro, A, Fessele, S, Steinkamp, R, Hagn, M, Raess, M, de Angelis, MH, Bottomley, J, Ramirez-Solis, R, Smedley, D, Ball, S, Blake, A, Fray, M, Kenyon, J, Mallon, AM, Brown, S, Massimi, M, Matteoni, R, Tocchini-Valentini, G, Herault, Y, Kollias, G, Ulfhake, B, Demengeot, J, Fremond, C, Bosch, F, Montoliu, L, Soininen, R, Schughart, K, Brakebusch, C, Sedlacek, R, Rulicke, T, McKerlie, C, Malissen, B, Iraqi, F, Jonkers, J, Russig, H, Huylebroeck, Danny, Helmholtz Centre for infection research, Inhoffenstr. 7, 38124 Braunschweig, Germany., and Cell biology

Subjects
Internet, business.industry, Knowledge Bases, Mutant, Biology, Mice, Mutant Strains, Biotechnology, World Wide Web, Phenotype, SDG 3 - Good Health and Well-being, Databases, Genetic, Models, Animal, Genetics, Database Issue, Animals, The Internet, business, Embryonic Stem Cells
Abstract

This deposit is composed by a publication in which the IGC' authors have had the role of collaboration (it's a collaboration publication). This type of deposit in ARCA is in restrictedAccess (it can't be in open access to the public), and could only be accessed by two ways: either by requesting a legal copy to the author (the email contact present in this deposit) or by visiting the following link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383977/ The laboratory mouse is a key model organism to investigate mechanism and therapeutics of human disease. The number of targeted genetic mouse models of disease is growing rapidly due to high-throughput production strategies employed by the International Mouse Phenotyping Consortium (IMPC) and the development of new, more efficient genome engineering techniques such as CRISPR based systems. We have previously described the European Mouse Mutant Archive (EMMA) resource and how this international infrastructure provides archiving and distribution worldwide for mutant mouse strains. EMMA has since evolved into INFRAFRONTIER (http://www.infrafrontier.eu), the pan-European research infrastructure for the systemic phenotyping, archiving and distribution of mouse disease models. Here we describe new features including improved search for mouse strains, support for new embryonic stem cell resources, access to training materials via a comprehensive knowledgebase and the promotion of innovative analytical and diagnostic techniques. European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI).

Published
2015
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71. Formed Elements of the Blood Platelets, and Thrombosis

Author

Arfors, K.-E., Bergqvisf, D., Rådegran, K., Goldstone, J., Sandow, N. H., Kennedy, Peter S., Solis, R. Thomas, Grabowski, Eric F., Herther, Kathleen K., Didisheim, Paul, Herman, Gilbert E., Henry, Raymond L., Tang, S. S., Panjwani, R., Frojmovic, M. M., Fleming, J. S., Buyniski, J. P., Spillert, C. R., Lazaro, E. J., Parmer, L. P., Schnerring, A. A., Calam, Roger R., Grignol, George E., Murano, Genesio, Smit Sibinga, C. T., Tempero, K. F., Breault, G. O., Swedenborg, J., Lagergren, H., Olsson, P., Schalin, L., DeBakey, Michael E., Chen, Michael M., Stemerman, M. B., Spaet, T. H., Blaisdell, Richard K., Schwan, Grazyna, Neimand, Douglas, Ramasamy, Narayanan, Sawyer, Phillip N., Wiedeman, Mary P., Tuma, Ronald F., Wall, W., Heimbecker, R. O., McKenzie, F. N., Robert, A., Barr, R., Wieringa, R. A., Davis, Eli, Rauch, Leon, Vaage, Jarle, Stasiw, Donald M., Rosato, Susan, Cerny, Lawrence C., Grayson, John, editor, and Zingg, Walter, editor

Published
1976
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72. Verification of the neutron diffusion code AZNHEX by means of the Serpent-DYN3D and Serpent-PARCS solution of the OECD/NEA SFR Benchmark

Author

Torres, A. G., Gallegos, E. D. V., Ramirez Arriaga, L., Lopez Solis, R. C., Puente Espel, F., Fridman, Emil, and Kliem, S.

Abstract

AZNHEX is a neutron diffusion code for hexagonal-z geometry currently under development as part of the AZTLAN project in which a Mexican platform for nuclear core simulations is being developed. The diffusion solver is based on the RTN0 (Raviart-Thomas-Nédélec of index 0) nodal finite element method together with the Gordon-Hall transfinite interpolation which is used to convert, in the radial plane, each one of the four trapezoids in a hexagon to squares. The main objective of this work is to test the AZNHEX code capabilities against two well-known diffusion codes DYN3D and PARCS. In a previous work, the Serpent Monte Carlo code was used as a tool for preparation of homogenized group constants for the nodal diffusion analysis of a large U-Pu MOX fueled Sodium-cooled Fast Reactor (SFR) core specified in the OECD/WPRS neutronic SFR benchmark. The group constants generated by Serpent were employed by DYN3D and PARCS nodal diffusion codes in 3D full core calculations. A good agreement between the reference Monte Carlo and nodal diffusion results was reported demonstrating the feasibility of using Serpent as a group constant generator for the deterministic SFR analysis. In order to verify the under development solver inside AZNHEX, the same Serpent generated cross sections sets for each material were exported to AZNHEX format for four different states (as in DYN3D and PARCS): a) a reference case in which the multiplication factor (keff) is the compared value, b) the Doppler constant (KD), c) the sodium void worth, and d) the total control rod worth. Additionally, the radial power distribution was also calculated. The results calculated with AZNHEX showed also a quite good agreement in the direct comparison with DYN3D (-66 pcm in keff) and PARCS (-109 pcm in keff) and therefore against the Serpent reference solution (-194 pcm in keff). As AZNHEX is still under development further improvements will be implemented and new tests will be carried out, but so far the results presented here give confidence in the development.

Published
2017

73. TCTE1 is a conserved component of the dynein regulatory complex and is required for motility and metabolism in mouse spermatozoa

Author

Castaneda, J. M. (Julio M.), Hua, R. (Rong), Miyata, H. (Haruhiko), Oji, A. (Asami), Guo, Y. (Yueshuai), Cheng, Y. (Yiwei), Zhou, T. (Tao), Guo, X. (Xuejiang), Cui, Y. (Yiqiang), Shen, B. (Bin), Wang, Z. (Zibin), Hu, Z. (Zhibin), Zhou, Z. (Zuomin), Sha, J. (Jiahao), Prunskaite-Hyyrylainen, R. (Renata), Yu, Z. (Zhifeng), Ramirez-Solis, R. (Ramiro), Ikawa, M. (Masahito), Matzuk, M. M. (Martin M.), and Liu, M. (Mingxi)

Subjects
testis-specific gene, glycolysis, mutant mouse, male infertility, asthenozoospermia
Abstract

Flagella and cilia are critical cellular organelles that provide a means for cells to sense and progress through their environment. The central component of flagella and cilia is the axoneme, which comprises the “9+2” microtubule arrangement, dynein arms, radial spokes, and the nexin-dynein regulatory complex (N-DRC). Failure to properly assemble components of the axoneme leads to defective flagella and in humans leads to a collection of diseases referred to as ciliopathies. Ciliopathies can manifest as severe syndromic diseases that affect lung and kidney function, central nervous system development, bone formation, visceral organ organization, and reproduction. T-Complex-Associated–Testis-Expressed 1 (TCTE1) is an evolutionarily conserved axonemal protein present from Chlamydomonas (DRC5) to mammals that localizes to the N-DRC. Here, we show that mouse TCTE1 is testis-enriched in its expression, with its mRNA appearing in early round spermatids and protein localized to the flagellum. TCTE1 is 498 aa in length with a leucine rich repeat domain at the C terminus and is present in eukaryotes containing a flagellum. Knockout of Tcte1 results in male sterility because Tcte1-null spermatozoa show aberrant motility. Although the axoneme is structurally normal in Tcte1 mutant spermatozoa, Tcte1-null sperm demonstrate a significant decrease of ATP, which is used by dynein motors to generate the bending force of the flagellum. These data provide a link to defining the molecular intricacies required for axoneme function, sperm motility, and male fertility.

Published
2017

74. Chair's welcome

Author

Scott Tyo, J, Ziolkowski, R, and Rodriguez-Solis, R

Published
2016

75. Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Author

Basel-Vanagaite, L, Dallapiccola, B, Ramirez-Solis, R, Segref, A, Thiele, H, Edwards, A, Arends, MJ, Miró, X, White, JK, Désir, J, Abramowicz, M, Dentici, ML, Lepri, F, Hofmann, K, Har-Zahav, A, Ryder, E, Karp, NA, Estabel, J, Gerdin, AKB, Podrini, C, Ingham, NJ, Altmüller, J, Nürnberg, G, Frommolt, P, Abdelhak, S, Pasmanik-Chor, M, Konen, O, Kelley, RI, Shohat, M, Nürnberg, P, Flint, J, Steel, KP, Hoppe, T, Kubisch, C, Adams, DJ, Borck, G, Schneider Children’s Medical Center of Israel [Petah Tikva], Raphael Recanati Genetics Institute [Petah Tikva], Rabin Medical Center, Felsenstein Medical Research Center [Petah Tikva], Sackler Faculty of Medicine, Tel Aviv University [Tel Aviv], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], The Wellcome Trust Sanger Institute [Cambridge], Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Institute for Genetics [Cologne], Cologne Center for Genomics, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford], Addenbrooke's Hospital, Cambridge University NHS Trust, University of Bonn, Department of Medical Genetics [Bruxelles], Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)-Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Instiitut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université libre de Bruxelles (ULB), Bioinformatics Group [Bergisch-Gladbach], Miltenyi Biotec GmbFl, Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), G.S.W. Faculty of Life Sciences [Tel Aviv], Schneider Children's Medical Center of Israel, Kennedy Krieger Institute [Baltimore], Center for Molecular Medicine [Cologne] (CMMC), Institute for Genetics, and Universität Ulm - Ulm University [Ulm, Allemagne]

Subjects
Central Nervous System, Male, HECT domain, [SDV]Life Sciences [q-bio], Mice, 0302 clinical medicine, Ubiquitin, Blepharoptosis, Exome, Genetics(clinical), Child, Genetics (clinical), Mice, Knockout, Genetics, 0303 health sciences, biology, Brain, Syndrome, Sciences bio-médicales et agricoles, Magnetic Resonance Imaging, Ubiquitin ligase, Child, Preschool, Female, Genotype, Ubiquitin-Protein Ligases, Blepharophimosis, Article, Frameshift mutation, 03 medical and health sciences, Intellectual Disability, Angelman syndrome, UBE3A, medicine, Animals, Humans, Amino Acid Sequence, Caenorhabditis elegans, Alleles, 030304 developmental biology, Base Sequence, Facies, Infant, medicine.disease, Oxidative Stress, Proteasome, Mutation, biology.protein, 030217 neurology & neurosurgery
Abstract

Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene. Although the function of UBE3A has been widely studied, little is known about its paralog UBE3B. By using exome and capillary sequencing, we here identify biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis- ptosis-intellectual-disability syndrome characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels. UBE3B encodes an uncharacterized E3 ubiquitin ligase. The identified UBE3B variants include one frameshift and two splice-site mutations as well as a missense substitution affecting the highly conserved HECT domain. Disruption of mouse Ube3b leads to reduced viability and recapitulates key aspects of the human disorder, such as reduced weight and brain size and a downregulation of cholesterol synthesis. We establish that the probable Caenorhabditis elegans ortholog of UBE3B, oxi-1, functions in the ubiquitin/proteasome system in vivo and is especially required under oxidative stress conditions. Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals. © 2012 The American Society of Human Genetics., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2012
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77. Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Author

Hrabe de Angelis, M. (M), Nicholson, G. (G), Selloum, M. (Mohammed), White, J. (J) K. (K), Morgan, H. (H), Ramirez-Solis, R. (R), Sorg, T. (Tania), Wells, S. (S), Fuchs, H. (H), Fray, M. (M), Adams, D. (D) J. (J), Adams, N. (N) C. (C), Adler, T. (T), Aguilar-Pimentel, A. (A), Ali-Hadji, D. (Dalila), Amann, G. (Grégory), Andre, P. (Philippe), Atkins, S. (S), Auburtin, A. (Aurélie), Ayadi, A. (Abdelkader), Becker, J. (Julien), Becker, L. (L), Bedu, E. (Elodie), Bekeredjian, R. (R), Birling, M. (Marie-Christine), Blake, A. (A), Bottomley, J. (J), Bowl, M. (M) R. (R), Brault, V. (Véronique), Busch, D. (D) H. (H), Bussell, J. (J) N. (N), Calzada-Wack, J. (J), Cater, H. (H), Champy, M. (Marie-France), Charles, P. (Philippe), Chevalier, C. (Claire), Chiani, F. (F), Codner, G. (G) F. (F), Combe, R. (R), Cox, R. (R), Dalloneau, E. (E), Dierich, A. (A), Di Fenza, A. (A), Doe, B. (B), Duchon, A. (Arnaud), Eickelberg, O. (O), Esapa, C. (C) T. (T), Fertak, L. (L) E. (E), Feigel, T. (T), Emelyanova, I. (I), Estabel, J. (J), Favor, J. (J), Flenniken, A. (A), Gambadoro, A. (A), Garrett, L. (L), Gates, H. (H), Gerdin, A. (A) K. (K), Gkoutos, G. (G), Greenaway, S. (S), Glasl, L. (L), Goetz, P. (P), Da Cruz, I. (I) G. (G), Gotz, A. (A), Graw, J. (J), Guimond, A. (Alain), Hans, W. (W), Hicks, G. (G), Holter, S. (S) M. (M), Hofler, H. (H), Hancock, J. (J) M. (M), Hoehndorf, R. (R), Hough, T. (T), Houghton, R. (R), Hurt, A. (A), Ivandic, B. (B), Jacobs, H. (Hugues), Jacquot, S. (Sylvie), Jones, N. (N), Karp, N. (N) A. (A), Katus, H. (H) A. (A), Kitchen, S. (S), Klein-Rodewald, T. (T), Klingenspor, M. (M), Klopstock, T. (T), Lalanne, V. (Valérie), Leblanc, S. (Sophie), Lengger, C. (C), le Marchand, E. (Elise), Ludwig, T. (T), Lux, A. (Aline), McKerlie, C. (C), Maier, H. (H), Mandel, J. (Jean-Louis), Marschall, S. (S), Mark, M. (Manuel), Melvin, D. (D) G. (G), Meziane, H. (Hamid), Micklich, K. (K), Mittelhauser, C. (C), Monassier, L. (Laurent), Moulaert, D. (David), Muller, S. (Stéphanie), Naton, B. (B), Neff, F. (F), Nolan, P. (P) M. (M), Nutter, L. (L) M. (M), Ollert, M. (M), Pavlovic, G. (Guillaume), Pellegata, N. (N) S. (S), Peter, E. (E), Petit-Demouliere, B. (Benoît), Pickard, A. (A), Podrini, C. (C), Potter, P. (P), Pouilly, L. (Laurent), Puk, O. (O), Richardson, D. (D), Rousseau, S. (Stéphane), Quintanilla-Fend, L. (L), Quwailid, M. (M) M. (M), Racz, I. (I), Rathkolb, B. (B), Riet, F. (Fabrice), Rossant, J. (J), Roux, M. (Michel), Rozman, J. (J), Ryder, E. (E), Salisbury, J. (J), Santos, L. (L), Schable, K. (K) H. (H), Schiller, E. (E), Schrewe, A. (A), Schulz, H. (H), Steinkamp, R. (R), Simon, M. (M), Stewart, M. (M), Stoger, C. (C), Stoger, T. (T), Sun, M. (M), Sunter, D. (D), Teboul, L. (L), Tilly, I. (I), Tocchini-Valentini, G. (G) P. (P), Tost, M. (M), Treise, I. (I), Vasseur, L. (Laurent), Velot, E. (E), Vogt-Weisenhorn, D. (D), Wagner, C. (Christel), Walling, A. (A), Wattenhofer-Donze, M. (Marie), Weber, B. (Bruno), Wendling, O. (Olivia), Westerberg, H. (H), Willershauser, M. (M), Wolf, E. (E), Wolter, A. (A), Wood, J. (J), Wurst, W. (W), Yildirim, A. (A) O. (O), Zeh, R. (R), Zimmer, A. (A), Zimprich, A. (A), Consortium, E. (Eumodic), Holmes, C. (C), Steel, K. (K) P. (P), Herault, Y. (Yann), Gailus-Durner, V. (V), Mallon, A. (A) M. (M), and Brown, S. (S) D. (D)

Subjects
Genetics, Male, Mice, Knockout, Heterozygote, Mutant, Homozygote, Aucun, Molecular Sequence Annotation, Biology, Phenotype, Mice, Inbred C57BL, Pleiotropy, ddc:570, Mutation, Animals, Humans, Human genome, Female, Allele, Gene, Gene knockout, Genetic Association Studies
Abstract

The function of the majority of genes in the mouse and human genomes remains unknown. The mouse embryonic stem cell knockout resource provides a basis for the characterization of relationships between genes and phenotypes. The EUMODIC consortium developed and validated robust methodologies for the broad-based phenotyping of knockouts through a pipeline comprising 20 disease-oriented platforms. We developed new statistical methods for pipeline design and data analysis aimed at detecting reproducible phenotypes with high power. We acquired phenotype data from 449 mutant alleles, representing 320 unique genes, of which half had no previous functional annotation. We captured data from over 27,000 mice, finding that 83% of the mutant lines are phenodeviant, with 65% demonstrating pleiotropy. Surprisingly, we found significant differences in phenotype annotation according to zygosity. New phenotypes were uncovered for many genes with previously unknown function, providing a powerful basis for hypothesis generation and further investigation in diverse systems. Comment in : Genetic differential calculus. [Nat Genet. 2015] Comment in : Scaling up phenotyping studies. [Nat Biotechnol. 2015]

Published
2015
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78. A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site

Author

Nürnberg ST, Rendon A, Smethurst PA, Paul DS, Voss K, Thon JN, Lloyd Jones H, Sambrook JG, Tijssen MR, Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Mägi R, Meacham S, Okada Y, Sorice R, Teumer A, Zhang W, Ramirez Solis R, Bis JC, Ellinghaus D, Gögele M, Hottenga JJ, Langenberg C, Kovacs P, F. P, Shin SY, Esko T, Hartiala J, Kanoni S, Murgia F, Parsa A, Stephens J, van der Harst P, van der Schoot C, Allayee H, Attwood A, Balkau B, Bastardot F, Basu S, Baumeister SE, Biino G, Bomba L, Bonnefond A, Cambien F, Chambers JC, Cucca F, Davies G, de Geus EJ, de Boer RA, Döring A, Elliott P, Erdmann J, Feng W, Evans DM, Falchi M, Folsom AR, Frazer IH, Gibson QD, Glazer NL, Hammond C, Hartikainen AL, Heckbert SR, Hengstenberg C, Hersch M, Illig T, Loos RJ, Jolley J, Khaw KT, Kühnel B, Kyrtsonis MC, Lagou V, Lumley T, Mangino M, Maschio A, Mateo Leach I, McKnight B, Memari Y, Mitchell BD, Montgomery GW, Nöthlings U, Nakamura Y, Nauck M, Navis G, Nolte IM, Porteous DJ, Pouta A, Pramstaller PP, Pullat J, Ring SM, Rotter JI, Ruggiero D, Ruokonen A, Sala C, Samani NJ, Sambrook J, Schlessinger D, Schreiber S, Schunkert H, Scott J, Smith NL, Snieder H, Starr JM, Stumvoll M, Takahashi A, Taylor K, Tenesa A, Thein SL, Tönjes A, Uda M, Ulivi S, Wichmann HE, Yang TP, van Veldhuisen DJ, Visscher PM, Völker U, Wiggins KL, Willemsen G, Zhao JH, Zitting P, Bradley JR, Dedoussis GV, Hazen SL, Metspalu A, Pirastu M, Shuldiner AR, van Pelt L, Zwaginga JJ, Boomsma DI, Deary IJ, Franke A, Froguel P, Ganesh SK, Jarvelin MR, Martin NG, Meisinger C, Psaty BM, Spector TD, Wareham NJ, Akkerman JW, Ciullo M, Deloukas P, Greinacher A, Jupe S, Kamatani N, Khadake J, Kooner JS, Penninger J, Prokopenko I, Stemple D, Toniolo D, Wernisch L, Sanna S, Hicks AA, Ferreira MA, Italiano JE Jr, Gottgens B, Soranzo N, Ouwehand WH, PIRASTU, Nicola, D'ADAMO, ADAMO PIO, GASPARINI, PAOLO, Nürnberg, St, Rendon, A, Smethurst, Pa, Paul, D, Voss, K, Thon, Jn, Lloyd Jones, H, Sambrook, Jg, Tijssen, Mr, Gieger, C, Radhakrishnan, A, Cvejic, A, Tang, W, Porcu, E, Pistis, G, Serbanovic Canic, J, Elling, U, Goodall, Ah, Labrune, Y, Lopez, Lm, Mägi, R, Meacham, S, Okada, Y, Pirastu, Nicola, Sorice, R, Teumer, A, Zhang, W, Ramirez Solis, R, Bis, Jc, Ellinghaus, D, Gögele, M, Hottenga, Jj, Langenberg, C, Kovacs, P, F., P, Shin, Sy, Esko, T, Hartiala, J, Kanoni, S, Murgia, F, Parsa, A, Stephens, J, van der Harst, P, van der Schoot, C, Allayee, H, Attwood, A, Balkau, B, Bastardot, F, Basu, S, Baumeister, Se, Biino, G, Bomba, L, Bonnefond, A, Cambien, F, Chambers, Jc, Cucca, F, D'Adamo, ADAMO PIO, Davies, G, de Geus, Ej, de Boer, Ra, Döring, A, Elliott, P, Erdmann, J, Feng, W, Evans, Dm, Falchi, M, Folsom, Ar, Frazer, Ih, Gibson, Qd, Glazer, Nl, Hammond, C, Hartikainen, Al, Heckbert, Sr, Hengstenberg, C, Hersch, M, Illig, T, Loos, Rj, Jolley, J, Khaw, Kt, Kühnel, B, Kyrtsonis, Mc, Lagou, V, Lumley, T, Mangino, M, Maschio, A, Mateo Leach, I, Mcknight, B, Memari, Y, Mitchell, Bd, Montgomery, Gw, Nöthlings, U, Nakamura, Y, Nauck, M, Navis, G, Nolte, Im, Porteous, Dj, Pouta, A, Pramstaller, Pp, Pullat, J, Ring, Sm, Rotter, Ji, Ruggiero, D, Ruokonen, A, Sala, C, Samani, Nj, Sambrook, J, Schlessinger, D, Schreiber, S, Schunkert, H, Scott, J, Smith, Nl, Snieder, H, Starr, Jm, Stumvoll, M, Takahashi, A, Taylor, K, Tenesa, A, Thein, Sl, Tönjes, A, Uda, M, Ulivi, S, Wichmann, He, Yang, Tp, van Veldhuisen, Dj, Visscher, Pm, Völker, U, Wiggins, Kl, Willemsen, G, Zhao, Jh, Zitting, P, Bradley, Jr, Dedoussis, Gv, Gasparini, Paolo, Hazen, Sl, Metspalu, A, Pirastu, M, Shuldiner, Ar, van Pelt, L, Zwaginga, Jj, Boomsma, Di, Deary, Ij, Franke, A, Froguel, P, Ganesh, Sk, Jarvelin, Mr, Martin, Ng, Meisinger, C, Psaty, Bm, Spector, Td, Wareham, Nj, Akkerman, Jw, Ciullo, M, Deloukas, P, Greinacher, A, Jupe, S, Kamatani, N, Khadake, J, Kooner, J, Penninger, J, Prokopenko, I, Stemple, D, Toniolo, D, Wernisch, L, Sanna, S, Hicks, Aa, Ferreira, Ma, Italiano JE, Jr, Gottgens, B, Soranzo, N, Ouwehand, Wh, Biological Psychology, and EMGO+ - Mental Health

Subjects
Netherlands Twin Register (NTR), Transcription, Genetic, Gene Expression, Biochemistry, megakaryocyte, Mice, DNM3 promoter, Transcription (biology), GWAS, Platelet, Thrombopoiesis, Myeloid Ecotropic Viral Integration Site 1 Protein, Promoter Regions, Genetic, Cells, Cultured, Reverse Transcriptase Polymerase Chain Reaction, Hematology, Neoplasm Proteins, Haematopoiesis, Transcription Initiation Site, Megakaryocytes, platelet volume, DNM3, megakaryocytes, MEIS1, Blood Platelets, Chromatin Immunoprecipitation, Immunology, Biology, Polymorphism, Single Nucleotide, MEIS1 binding site, SDG 3 - Good Health and Well-being, Cell Line, Tumor, Animals, Humans, Cell Lineage, Binding site, Gene, Transcription factor, Homeodomain Proteins, Binding Sites, Genome, Human, Platelet Count, Hydrazones, Genetic Variation, Cell Biology, Sequence Analysis, DNA, Platelets and Thrombopoiesis, Molecular biology, Dynamin III
Abstract

We recently identified 68 genomic loci where common sequence variants are associated with platelet count and volume. Platelets are formed in the bone marrow by megakaryocytes, which are derived from hematopoietic stem cells by a process mainly controlled by transcription factors. The homeobox transcription factor MEIS1 is uniquely transcribed in megakaryocytes and not in the other lineage-committed blood cells. By ChIP-seq, we show that 5 of the 68 loci pinpoint a MEIS1 binding event within a group of 252 MK-overexpressed genes. In one such locus in DNM3, regulating platelet volume, the MEIS1 binding site falls within a region acting as an alternative promoter that is solely used in megakaryocytes, where allelic variation dictates different levels of a shorter transcript. The importance of dynamin activity to the latter stages of thrombopoiesis was confirmed by the observation that the inhibitor Dynasore reduced murine proplatelet for-mation in vitro.

Published
2013
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80. A gene expression resource generated by genome-wide lacZ profiling in the mouse

Author

Tuck E, Estabel J, Oellrich A, Ak, Maguire, Ha, Adissu, Souter L, Siragher E, Lillistone C, Al, Green, Hw, Jones, Dm, Carragher, Natasha Karp, Smedley D, Nc, Adams, Sanger Institute Mouse Genetics Project, Jn, Bussell, Dj, Adams, Ramírez-Solis R, Kp, Steel, Galli A, and Jk, White

Subjects
Resource, Mouse, Neuroscience (miscellaneous), lcsh:Medicine, Gene Expression, Medicine (miscellaneous), Genome-wide association study, Computational biology, Biology, Genome, General Biochemistry, Genetics and Molecular Biology, Mice, Immunology and Microbiology (miscellaneous), Genes, Reporter, Gene expression, lcsh:Pathology, Animals, Humans, Resource Article, Gene, Genetics, Gene Expression Profiling, lcsh:R, Phenotype, Gene expression profiling, Knockout mouse, lacZ reporter, Organ Specificity, lcsh:RB1-214
Abstract

Knowledge of the expression profile of a gene is a critical piece of information required to build an understanding of the normal and essential functions of that gene and any role it may play in the development or progression of disease. High-throughput, large-scale efforts are on-going internationally to characterise reporter-tagged knockout mouse lines. As part of that effort, we report an open access adult mouse expression resource, in which the expression profile of 424 genes has been assessed in up to 47 different organs, tissues and sub-structures using a lacZ reporter gene. Many specific and informative expression patterns were noted. Expression was most commonly observed in the testis and brain and was most restricted in white adipose tissue and mammary gland. Over half of the assessed genes presented with an absent or localised expression pattern (categorised as 0-10 positive structures). A link between complexity of expression profile and viability of homozygous null animals was observed; inactivation of genes expressed in ≥21 structures was more likely to result in reduced viability by postnatal day 14 compared with more restricted expression profiles. For validation purposes, this mouse expression resource was compared with Bgee, a federated composite of RNA-based expression data sets. Strong agreement was observed, indicating a high degree of specificity in our data. Furthermore, there were 1207 observations of expression of a particular gene in an anatomical structure where Bgee had no data, indicating a large amount of novelty in our data set. Examples of expression data corroborating and extending genotype-phenotype associations and supporting disease gene candidacy are presented to demonstrate the potential of this powerful resource., Editor's Choice: The report presents an open-access adult mouse expression resource, in which the expression profile of 424 genes has been assessed in up to 47 different organs, tissues and sub-structures using a lacZ reporter gene.

Published
2015
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81. Experimental Treatment of Ebola Virus Disease with Brincidofovir.

Author

Glod, JW, Dunning, J, Kennedy, SB, Antierens, A, Whitehead, J, Ciglenecki, I, Carson, G, Kanapathipillai, R, Castle, L, Howell-Jones, R, Pardinaz-Solis, R, Grove, J, Scott, J, Lang, T, Olliaro, P, Horby, PW, RAPIDE-BCV trial team, Glod, JW, Dunning, J, Kennedy, SB, Antierens, A, Whitehead, J, Ciglenecki, I, Carson, G, Kanapathipillai, R, Castle, L, Howell-Jones, R, Pardinaz-Solis, R, Grove, J, Scott, J, Lang, T, Olliaro, P, Horby, PW, and RAPIDE-BCV trial team

Abstract

BACKGROUND: The nucleotide analogue brincidofovir was developed to prevent and treat infections caused by double-stranded DNA viruses. Based on in vitro data suggesting an antiviral effect against Ebola virus, brincidofovir was included in the World Health Organisation list of agents that should be prioritised for clinical evaluation in patients with Ebola virus disease (EVD) during the West African epidemic. METHODS AND FINDINGS: In this single-arm phase 2 trial conducted in Liberia, patients with laboratory-confirmed EVD (two months of age or older, enrolment bodyweight ≥50 kg) received oral brincidofovir 200 mg as a loading dose on day 0, followed by 100 mg brincidofovir on days 3, 7, 10, and 14. Bodyweight-adjusted dosing was used for patients weighing <50 kg at enrolment. The primary outcome was survival at Day 14 after the first dose of brincidofovir. Four patients were enrolled between 01 January 2015 and 31 January 2015. The trial was stopped following the decision by the manufacturer to terminate their program of development of brincidofovir for EVD. No Serious Adverse Reactions or Suspected Unexpected Serious Adverse Reactions were identified. All enrolled subjects died of an illness consistent with EVD. CONCLUSIONS: Due to the small sample size it was not possible to determine the efficacy of brincidofovir for the treatment of EVD. The premature termination of the trial highlights the need to establish better practices for preclinical in-vitro and animal screening of therapeutics for potentially emerging epidemic infectious diseases prior to their use in patients. TRIAL REGISTRATION: Pan African Clinical Trials Registry PACTR201411000939962.

Published
2016

82. Experimental Treatment of Ebola Virus Disease with TKM-130803: A Single-Arm Phase 2 Clinical Trial

Author

von Seidlein, L, Dunning, J, Sahr, F, Rojek, A, Gannon, F, Carson, G, Idriss, B, Massaquoi, T, Gandi, R, Joseph, S, Osman, HK, Brooks, TJG, Simpson, AJH, Goodfellow, I, Thorne, L, Arias, A, Merson, L, Castle, L, Howell-Jones, R, Pardinaz-Solis, R, Hope-Gill, B, Ferri, M, Grove, J, Kowalski, M, Stepniewska, K, Lang, T, Whitehead, J, Olliaro, P, Samai, M, Horby, PW, von Seidlein, L, Dunning, J, Sahr, F, Rojek, A, Gannon, F, Carson, G, Idriss, B, Massaquoi, T, Gandi, R, Joseph, S, Osman, HK, Brooks, TJG, Simpson, AJH, Goodfellow, I, Thorne, L, Arias, A, Merson, L, Castle, L, Howell-Jones, R, Pardinaz-Solis, R, Hope-Gill, B, Ferri, M, Grove, J, Kowalski, M, Stepniewska, K, Lang, T, Whitehead, J, Olliaro, P, Samai, M, and Horby, PW

Abstract

BACKGROUND: TKM-130803, a small interfering RNA lipid nanoparticle product, has been developed for the treatment of Ebola virus disease (EVD), but its efficacy and safety in humans has not been evaluated. METHODS AND FINDINGS: In this single-arm phase 2 trial, adults with laboratory-confirmed EVD received 0.3 mg/kg of TKM-130803 by intravenous infusion once daily for up to 7 d. On days when trial enrolment capacity was reached, patients were enrolled into a concurrent observational cohort. The primary outcome was survival to day 14 after admission, excluding patients who died within 48 h of admission. After 14 adults with EVD had received TKM-130803, the pre-specified futility boundary was reached, indicating a probability of survival to day 14 of ≤0.55, and enrolment was stopped. Pre-treatment geometric mean Ebola virus load in the 14 TKM-130803 recipients was 2.24 × 109 RNA copies/ml plasma (95% CI 7.52 × 108, 6.66 × 109). Two of the TKM-130803 recipients died within 48 h of admission and were therefore excluded from the primary outcome analysis. Of the remaining 12 TKM-130803 recipients, nine died and three survived. The probability that a TKM-130803 recipient who survived for 48 h will subsequently survive to day 14 was estimated to be 0.27 (95% CI 0.06, 0.58). TKM-130803 infusions were well tolerated, with 56 doses administered and only one possible infusion-related reaction observed. Three patients were enrolled in the observational cohort, of whom two died. CONCLUSIONS: Administration of TKM-130803 at a dose of 0.3 mg/kg/d by intravenous infusion to adult patients with severe EVD was not shown to improve survival when compared to historic controls. TRIAL REGISTRATION: Pan African Clinical Trials Registry PACTR201501000997429.

Published
2016

83. Genome engineering uncovers 54 evolutionarily conserved and testis-enriched genes that are not required for male fertility in mice

Author

Miyata, H. (Haruhiko), Castaneda, J. M. (Julio M.), Fujihara, Y. (Yoshitaka), Yu, Z. (Zhifeng), Archambeaul, D. R. (Denise R.), Isotani, A. (Ayako), Kiyozumi, D. (Daiji), Kriseman, M. L. (Maya L.), Mashiko, D. (Daisuke), Matsumura, T. (Takafumi), Matzuk, R. M. (Ryan M.), Mori, M. (Masashi), Noda, T. (Taichi), Oji, A. (Asami), Okabe, M. (Masaru), Prunskaite-Hyyrylainen, R. (Renata), Ramirez-Solis, R. (Ramiro), Satouh, Y. (Yuhkoh), Zhang, Q. (Qian), Ikawa, M. (Masahito), Matzuk, M. M. (Martin M.), Miyata, H. (Haruhiko), Castaneda, J. M. (Julio M.), Fujihara, Y. (Yoshitaka), Yu, Z. (Zhifeng), Archambeaul, D. R. (Denise R.), Isotani, A. (Ayako), Kiyozumi, D. (Daiji), Kriseman, M. L. (Maya L.), Mashiko, D. (Daisuke), Matsumura, T. (Takafumi), Matzuk, R. M. (Ryan M.), Mori, M. (Masashi), Noda, T. (Taichi), Oji, A. (Asami), Okabe, M. (Masaru), Prunskaite-Hyyrylainen, R. (Renata), Ramirez-Solis, R. (Ramiro), Satouh, Y. (Yuhkoh), Zhang, Q. (Qian), Ikawa, M. (Masahito), and Matzuk, M. M. (Martin M.)

Abstract

Gene-expression analysis studies from Schultz et al. estimate that more than 2,300 genes in the mouse genome are expressed predominantly in the male germ line. As of their 2003 publication [Schultz N, Hamra FK, Garbers DL (2003) Proc Natl Acad Sci USA 100(21):12201–12206], the functions of the majority of these testis-enriched genes during spermatogenesis and fertilization were largely unknown. Since the study by Schultz et al., functional analysis of hundreds of reproductive-tract–enriched genes have been performed, but there remain many testis-enriched genes for which their relevance to reproduction remain unexplored or unreported. Historically, a gene knockout is the “gold standard” to determine whether a gene’s function is essential in vivo. Although knockout mice without apparent phenotypes are rarely published, these knockout mouse lines and their phenotypic information need to be shared to prevent redundant experiments. Herein, we used bioinformatic and experimental approaches to uncover mouse testis-enriched genes that are evolutionarily conserved in humans. We then used gene-disruption approaches, including Knockout Mouse Project resources (targeting vectors and mice) and CRISPR/Cas9, to mutate and quickly analyze the fertility of these mutant mice. We discovered that 54 mutant mouse lines were fertile. Thus, despite evolutionary conservation of these genes in vertebrates and in some cases in all eukaryotes, our results indicate that these genes are not individually essential for male mouse fertility. Our phenotypic data are highly relevant in this fiscally tight funding period and postgenomic age when large numbers of genomes are being analyzed for disease association, and will prevent unnecessary expenditures and duplications of effort by others.

Published
2016

85. Short period incidence sTudy of severe acute respiratory infection (SPRINT-SARI) initial data from a global observational study to better describe SARI epidemiology in critically ill patients

Author

Carson, G.L., primary, Castle, L., additional, George, M., additional, Horby, P., additional, Longuere, K.-S., additional, Merson, L., additional, Murthy, S., additional, O’neill, G., additional, Pardinaz-Solis, R., additional, and Webb, S., additional

Published
2016
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90. 580P - Safety and outcomes of self-expandable metal stents (SEMS) versus emergency surgery for acute colonic obstruction in metastatic colon cancer patients treated with bevacizumab (BV)

Author

Pacheco-Barcia, V.E., Mondéjar Solís, R., Martínez-Sáez, O., Longo, F., Bermejo, E., Moreno, J.A., Marin, C., Correa, A., Maqueda, R., Rogado, J., García de Paredes, A., Rodriguez de Santiago, E., Pachón Olmos, V., Ferreiro Monteagudo, R., Rodriguez Garrote, M., Carrato Mena, A., Donnay, O., Martin Perez, E., Santander, C., and Colomer Bosch, R.

Published
2018
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93. PD-016 - Safety of self-expandable metal stents (SEMS) or emergency surgery for acute colonic obstruction in metastatic colon cancer patients treated with bevacizumab

Author

Pacheco-Barcia, V., Solís, R. Mondéjar, Saez, O. Martínez, Muñoz, F. Longo, Bermejo, E., Monteagudo, J. Moreno, Marin, C., Correa, A., Maqueda, R., Rogado, J., de Paredes, A. Garcia, de Santiago, E. Rodriguez, Olmos, V. Pachón, Monteagudo, R. Ferreiro, Garrote, M. Rodriguez, Carrato, A., Donnay, O., Martin, E., Santander, C., and Colomer, R.

Published
2018
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96. Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength

Author

Bassett, J.H.D., Gogakos, A., White, J.K., Evans, H., Jacques, R.M., van der Spek, A.H., Ramirez-Solis, R., Ryder, E., Sunter, D., Boyde, A., Campbell, M.J., Croucher, P.I., Williams, G.R., and Project, S.M.G.

Abstract

Osteoporosis is a common polygenic disease and global healthcare priority but its genetic basis remains largely unknown. We report a high-throughput multi-parameter phenotype screen to identify functionally significant skeletal phenotypes in mice generated by the Wellcome Trust Sanger Institute Mouse Genetics Project and discover novel genes that may be involved in the pathogenesis of osteoporosis. The integrated use of primary phenotype data with quantitative x-ray microradiography, micro-computed tomography, statistical approaches and biomechanical testing in 100 unselected knockout mouse strains identified nine new genetic determinants of bone mass and strength. These nine new genes include five whose deletion results in low bone mass and four whose deletion results in high bone mass. None of the nine genes have been implicated previously in skeletal disorders and detailed analysis of the biomechanical consequences of their deletion revealed a novel functional classification of bone structure and strength. The organ-specific and disease-focused strategy described in this study can be applied to any biological system or tractable polygenic disease, thus providing a general basis to define gene function in a system-specific manner. Application of the approach to diseases affecting other physiological systems will help to realize the full potential of the International Mouse Phenotyping Consortium.

Published
2012

97. The European Mouse Mutant Archive (EMMA)

Author

Fessele S., Tocchini- Valentini G., Herault Y., Brown S., Lendahl U., Demengeot J., Hrabe de Angelis M., Flicek P., Ramirez-Solis R., Montoliu L., Kollias G., Sedlacek R., Soininen R., and Ruelicke T.

Published
2012

98. New gene functions in megakaryopoiesis and platelet formation

Author

Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Mxe4gi R, Meacham S, Okada Y, Pirastu N, Sorice R, Teumer A, Voss K, Zhang W, Ramirez-Solis R, Bis JC, Ellinghaus D, Gxf6gele M, Hottenga JJ, Langenberg C, Kovacs P, O'Reilly PF, Shin SY, Esko T, Hartiala J, Kanoni S, Penninger J, and et al

Published
2011

100. EMMA - European Mouse Mutant Archive

Author

Fernandez J., Fessele S., Montoliu L., Tocchini-Valentini G., Herault Y., Brown S., Lendahl U., Demengeot J., Birney E., Ramirez-Solis R., Kollias G., Sedlacek R., Soininen R., Ruelicke T., and Hrabe de Angelis M.

Subjects
Mouse mutant, Disease model
Published
2011

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