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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 89286302.

Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme

Morag A. Lewis, Neil J. Ingham, Jing Chen, Selina Pearson, Francesca Di Domenico, Sohinder Rekhi, Rochelle Allen, Matthew Drake, Annelore Willaert, Victoria Rook, Johanna Pass, Thomas Keane, David J. Adams, Abigail S. Tucker, Jacqueline K. White, Karen P. Steel

BMC Biol. 2022; 20: 67. Published online 2022 Mar 17. doi: 10.1186/s12915-022-01257-8

PMCID:: PMC8928630

Abstract Article PDF–27M

Select item 84861443.

Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss

Neil J. Ingham, Navid Banafshe, Clarisse Panganiban, Julia L. Crunden, Jing Chen, Morag A. Lewis, Karen P. Steel

PLoS One. 2021; 16(10): e0258158. Published online 2021 Oct 1. doi: 10.1371/journal.pone.0258158

PMCID:: PMC8486144

Abstract Article PDF–5.3M

Select item 79387704.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 75338805.

Hemostasis vs. homeostasis: Platelets are essential for preserving vascular barrier function in the absence of injury or inflammation

Shuchi Gupta, Christoph Konradt, Adam Corken, Jerry Ware, Bernhard Nieswandt, Jorge Di Paola, Mei Yu, Demin Wang, Marvin T. Nieman, Sidney W. Whiteheart, Lawrence F. Brass

Proc Natl Acad Sci U S A. 2020 Sep 29; 117(39): 24316–24325. Published online 2020 Sep 14. doi: 10.1073/pnas.2007642117

PMCID:: PMC7533880

Abstract Article PDF–2.4M

Select item 72636716.

A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation

Louise van der Weyden, Agnieszka Swiatkowska, Vivek Iyer, Anneliese O. Speak, David J. Adams

G3 (Bethesda) 2020 Jun; 10(6): 1869–1877. Published online 2020 Apr 3. doi: 10.1534/g3.120.401128

PMCID:: PMC7263671

Abstract Article PDF–1.0M

Select item 68857417.

Cul3‐Klhl18 ubiquitin ligase modulates rod transducin translocation during light‐dark adaptation

Taro Chaya, Ryotaro Tsutsumi, Leah Rie Varner, Yamato Maeda, Satoyo Yoshida, Takahisa Furukawa

EMBO J. 2019 Dec 2; 38(23): e101409. Published online 2019 Nov 7. doi: 10.15252/embj.2018101409

PMCID:: PMC6885741

Abstract Article PDF–5.2M

Select item 65543148.

Defective Zn²⁺ homeostasis in mouse and human platelets with α- and δ-storage pool diseases

Sanjeev Kiran Gotru, Johanna P. van Geffen, Magdolna Nagy, Elmina Mammadova-Bach, Julia Eilenberger, Julia Volz, Georgi Manukjan, Harald Schulze, Leonard Wagner, Stefan Eber, Christian Schambeck, Carsten Deppermann, Sanne Brouns, Paquita Nurden, Andreas Greinacher, Ulrich Sachs, Bernhard Nieswandt, Heike M. Hermanns, Johan W. M. Heemskerk, Attila Braun

Sci Rep. 2019; 9: 8333. Published online 2019 Jun 6. doi: 10.1038/s41598-019-44751-w

PMCID:: PMC6554314

Abstract Article PDF–1.1M

Select item 64595109.

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel

PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194

PMCID:: PMC6459510

Abstract Article PDF–5.1M

Select item 587778310.

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Louisa Mayer, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst, Luigi Grassi, Romina Petersen, Paquita Nurden, Rémi Favier, Lu Yu, Stuart Meacham, William J. Astle, Jyoti Choudhary, Wyatt W. Yue, Willem H. Ouwehand, Jose A. Guerrero

Blood. 2018 Mar 1; 131(9): 1000–1011. Prepublished online 2017 Nov 29. doi: 10.1182/blood-2017-08-800359

PMCID:: PMC5877783

Abstract Article

Select item 566955911.

NBEAL2 is required for neutrophil and NK cell function and pathogen defense

John M. Sowerby, David C. Thomas, Simon Clare, Marion Espéli, Jose A. Guerrero, Kim Hoenderdos, Katherine Harcourt, Morgan Marsden, Juneid Abdul-Karim, Mathew Clement, Robin Antrobus, Yagnesh Umrania, Philippa R. Barton, Shaun M. Flint, Jatinder K. Juss, Alison M. Condliffe, Paul A. Lyons, Ian R. Humphreys, Edwin R. Chilvers, Willem H. Ouwehand, Gordon Dougan, Kenneth G.C. Smith

J Clin Invest. 2017 Sep 1; 127(9): 3521–3526. Published online 2017 Aug 7. doi: 10.1172/JCI91684

PMCID:: PMC5669559

Abstract Article PDF–879K

Select item 540736312.

Intracellular trafficking, localization and mobilization of platelet-borne thiol isomerases

Marilena Crescente, Fred G. Pluthero, Ling Li, Richard W. Lo, Tony G. Walsh, Silvia Louriero, Marfoua S Ali, Sakthivel Vaiyapuri, Michael P. Schenk, Lisa M Holbrook, Hervé Falet, Ian M. Jones, Alastair W. Poole, Walter H. A. Kahr, Jonathan M. Gibbins

Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2016 Jun; 36(6): 1164–1173. Published online 2016 Apr 14. doi: 10.1161/ATVBAHA.116.307461

PMCID:: PMC5407363

Abstract Article PDF–813K

Select item 478076113.

Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice

Kärt Tomberg, Rami Khoriaty, Randal J. Westrick, Heather E. Fairfield, Laura G. Reinholdt, Gary L. Brodsky, Pavel Davizon-Castillo, David Ginsburg, Jorge Di Paola

PLoS One. 2016; 11(3): e0150852. Published online 2016 Mar 7. doi: 10.1371/journal.pone.0150852

PMCID:: PMC4780761

Abstract Article PDF–12M

Select item 446373714.

Podoplanin and CLEC-2 drive cerebrovascular patterning and integrity during development

Kate L. Lowe, Brenda A. Finney, Carsten Deppermann, René Hägerling, Salomé L. Gazit, Jon Frampton, Christopher Buckley, Eric Camerer, Bernhard Nieswandt, Friedemann Kiefer, Steve P. Watson

Blood. 2015 Jun 11; 125(24): 3769–3777. Prepublished online 2015 Apr 23. doi: 10.1182/blood-2014-09-603803

PMCID:: PMC4463737

Abstract Article

Select item 401102615.

Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice

Carsten Deppermann, Deya Cherpokova, Paquita Nurden, Jan-Niklas Schulz, Ina Thielmann, Peter Kraft, Timo Vögtle, Christoph Kleinschnitz, Sebastian Dütting, Georg Krohne, Sabine A. Eming, Alan T. Nurden, Beate Eckes, Guido Stoll, David Stegner, Bernhard Nieswandt

J Clin Invest. 2013 Aug 1; 123(8): 3331–3342. Published online 2013 Jul 1. doi: 10.1172/JCI69210

PMCID:: PMC4011026

Abstract Article PDF–3.6M

Select item 395309116.

Abnormal megakaryocyte development and platelet function in Nbeal2^−/− mice

Walter H. A. Kahr, Richard W. Lo, Ling Li, Fred G. Pluthero, Hilary Christensen, Ran Ni, Nima Vaezzadeh, Cynthia E. Hawkins, Andrew S. Weyrich, Jorge Di Paola, Carolina Landolt-Marticorena, Peter L. Gross

Blood. 2013 Nov 7; 122(19): 3349–3358. Prepublished online 2013 Jul 16. doi: 10.1182/blood-2013-04-499491

PMCID:: PMC3953091

Abstract Article

Select item 357241017.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 317805918.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 302253419.

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio

PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582

PMCID:: PMC3022534

Abstract Article PDF–3.8M

Select item 43978320.

Genomic Analysis of Mouse Retinal Development

Seth Blackshaw, Sanjiv Harpavat, Jeff Trimarchi, Li Cai, Haiyan Huang, Winston P Kuo, Griffin Weber, Kyungjoon Lee, Rebecca E Fraioli, Seo-Hee Cho, Rachel Yung, Elizabeth Asch, Lucila Ohno-Machado, Wing H Wong, Constance L Cepko

PLoS Biol. 2004 Sep; 2(9): e247. Published online 2004 Jun 29. doi: 10.1371/journal.pbio.0020247

PMCID:: PMC439783

Abstract Article PDF–975K

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