Expression of the p56(Lck) Y505F mutation in CD45-deficient mice rescues thymocyte development.

Autor: Seavitt, J R, White, L S, Murphy, K M, Loh, D Y, Perlmutter, R M, Thomas, M L

Publikováno v: Molecular and Cellular Biology; June 1999, Vol. 19 Issue: 6 p4200-8, 9p

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

Autor: Shan Chen, Yi-Chien Lee, Bernardo Blanco-Sánchez, Nitesh R. Mehta, Xiaohui Li, Brendan Lee, Catherine DeVile, Jill A. Rosenfeld, Daryl A. Scott, Ming-Ming Jiang, V. Reid Sutton, I-Wen Song, Kyu Sang Joeng, Rossella Venditti, Yuqing Chen, Richard A. Gibbs, John Hicks, Alistair Calder, Ghayda Mirzaa, David R. Murdock, Jeremy Wegner, Gladys Zapata, Tashunka Taylor-Miller, David R. Eyre, Aurélie Clément, Brian Dawson, Joseph M. Sliepka, Jason D. Heaney, Marwan Shinawi, Shalini N. Jhangiani, Donna M. Muzny, Dominyka Batkovskyte, Lisa Emrick, John R. Seavitt, Ronit Marom, Brenna A. Tremp, Maria Antonietta De Matteis, Zixue Jin, Lindsay C. Burrage, Denise G. Lanza, Monte Westerfield, Jeremy Allgrove, Rolf W. Stottmann, Jennifer B. Phillips, Rowenna Roberts, Abbey A. Scott, Neil A. Hanchard, Mahim Jain, Megan Washington, Alyssa A. Tran, Mary E. Dickinson, Ingo Grafe, MaryAnn Weis

Publikováno v: Am J Hum Genet.
Am J Hum Genet

Summary Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that can

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf0ae90b2f705d325cc4cd87eaefd7de

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.

Autor: Bowl MR; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK., Simon MM; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK., Ingham NJ; King's College London, London, SE1 1UL, UK.; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., Greenaway S; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK., Santos L; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK., Cater H; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK., Taylor S; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK., Mason J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK., Kurbatova N; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK., Pearson S; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., Bower LR; Mouse Biology Program, University of California, Davis, California, 95618, USA., Clary DA; Mouse Biology Program, University of California, Davis, California, 95618, USA., Meziane H; CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), 1 rue Laurent Fries, Illkirch-Graffenstaden, F-67404, France., Reilly P; CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), 1 rue Laurent Fries, Illkirch-Graffenstaden, F-67404, France., Minowa O; RIKEN BioResource Center, Tsukuba, Ibaraki, 305-0074, Japan., Kelsey L; The Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.; The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.; Canada and Mount Sinai Hospital, Toronto, Ontario, Canada, M5G 1X5., Tocchini-Valentini GP; Monterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, I-00015, Monterotondo Scalo, Italy., Gao X; SKL of Pharmaceutical Biotechnology and Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, 210061, Nanjing, China., Bradley A; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., Skarnes WC; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., Moore M; IMPC, San Anselmo, California, 94960, USA., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Justice MJ; The Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.; The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.; Canada and Mount Sinai Hospital, Toronto, Ontario, Canada, M5G 1X5.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Seavitt J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Dickinson ME; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, 77030, USA., Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Ingolstaedter Landstrasse 1, 85764, Neuherberg, Germany., de Angelis MH; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Ingolstaedter Landstrasse 1, 85764, Neuherberg, Germany., Herault Y; CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), 1 rue Laurent Fries, Illkirch-Graffenstaden, F-67404, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg, 67404, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, 67404, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, 67404, Illkirch, France., Wakana S; RIKEN BioResource Center, Tsukuba, Ibaraki, 305-0074, Japan., Nutter LMJ; The Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.; The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.; Canada and Mount Sinai Hospital, Toronto, Ontario, Canada, M5G 1X5., Flenniken AM; The Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.; The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.; Canada and Mount Sinai Hospital, Toronto, Ontario, Canada, M5G 1X5., McKerlie C; The Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.; The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.; Canada and Mount Sinai Hospital, Toronto, Ontario, Canada, M5G 1X5., Murray SA; The Jackson Laboratory, Bar Harbor, Maine, 04609, USA., Svenson KL; The Jackson Laboratory, Bar Harbor, Maine, 04609, USA., Braun RE; The Jackson Laboratory, Bar Harbor, Maine, 04609, USA., West DB; Childrens' Hospital Oakland Research Institute, Oakland, California, 94609, USA., Lloyd KCK; Mouse Biology Program, University of California, Davis, California, 95618, USA., Adams DJ; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., White J; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., Karp N; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK., Smedley D; Queen Mary University of London, London, WC1E 6BT, UK., Meehan TF; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK., Parkinson HE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK., Teboul LM; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK., Wells S; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK., Steel KP; King's College London, London, SE1 1UL, UK.; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., Mallon AM; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK., Brown SDM; Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK. s.brown@har.mrc.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2017 Oct 12; Vol. 8 (1), pp. 886. Date of Electronic Publication: 2017 Oct 12.

Loss of Functionally Redundant p38 Isoforms in T Cells Enhances Regulatory T Cell Induction.

Autor: Hayakawa M; From the Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129; the Department of Biochemistry, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan., Hayakawa H; From the Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129; the Department of Biochemistry, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan., Petrova T; the Division of Cell Signalling and Immunology, School of Life Sciences, Wellcome Trust Building, Dundee DD1 5EH, United Kingdom., Ritprajak P; From the Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129; the Department of Microbiology and Immunology and Research Unit of Oral Microbiology, Faculty of Dentistry, Chulalongkorn University, Bangkok 10330, Thailand., Sutavani RV; the Division of Cell Signalling and Immunology, School of Life Sciences, Wellcome Trust Building, Dundee DD1 5EH, United Kingdom., Jiménez-Andrade GY; From the Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129., Sano Y; From the Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129., Choo MK; From the Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129., Seavitt J; From the Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129., Venigalla RKC; MRC Protein Phosphorylation Unit, School of Life Sciences, Sir James Black Centre, University of Dundee, Dundee DD1 5EH, United Kingdom., Otsu K; the Cardiovascular Division, King's College London, London SE5 9NU, United Kingdom., Georgopoulos K; From the Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129., Arthur JSC; the Division of Cell Signalling and Immunology, School of Life Sciences, Wellcome Trust Building, Dundee DD1 5EH, United Kingdom., Park JM; From the Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129. Electronic address: jmpark@cbrc2.mgh.harvard.edu.

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2017 Feb 03; Vol. 292 (5), pp. 1762-1772. Date of Electronic Publication: 2016 Dec 23.

Harnessing of the nucleosome-remodeling-deacetylase complex controls lymphocyte development and prevents leukemogenesis.

Autor: Zhang J; FAS Research Computing, Harvard University, Cambridge, MA 02138, USA., Jackson AF; CBRC, Mass General Hospital, Harvard Medical School, Charlestown, MA, 02129, USA., Naito T; CBRC, Mass General Hospital, Harvard Medical School, Charlestown, MA, 02129, USA., Dose M; Department of Medicine, The University of Chicago, Chicago, IL 60637, USA., Seavitt J; CBRC, Mass General Hospital, Harvard Medical School, Charlestown, MA, 02129, USA., Liu F; CBRC, Mass General Hospital, Harvard Medical School, Charlestown, MA, 02129, USA., Heller EJ; CBRC, Mass General Hospital, Harvard Medical School, Charlestown, MA, 02129, USA., Kashiwagi M; CBRC, Mass General Hospital, Harvard Medical School, Charlestown, MA, 02129, USA., Yoshida T; CBRC, Mass General Hospital, Harvard Medical School, Charlestown, MA, 02129, USA., Gounari F; Department of Medicine, The University of Chicago, Chicago, IL 60637, USA., Petrie HT; Department of Cancer Biology, The Scripps Research Institute, Jupiter, FL 33458, USA., Georgopoulos K; CBRC, Mass General Hospital, Harvard Medical School, Charlestown, MA, 02129, USA.

Publikováno v: Nature immunology [Nat Immunol] 2011 Nov 13; Vol. 13 (1), pp. 86-94. Date of Electronic Publication: 2011 Nov 13.