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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1243, doi. 10.1038/ng.2414
By:
- Rice, Gillian I;
- Kasher, Paul R;
- Forte, Gabriella M A;
- Mannion, Niamh M;
- Greenwood, Sam M;
- Szynkiewicz, Marcin;
- Dickerson, Jonathan E;
- Bhaskar, Sanjeev S;
- Zampini, Massimiliano;
- Briggs, Tracy A;
- Jenkinson, Emma M;
- Bacino, Carlos A;
- Battini, Roberta;
- Bertini, Enrico;
- Brogan, Paul A;
- Brueton, Louise A;
- Carpanelli, Marialuisa;
- De Laet, Corinne;
- de Lonlay, Pascale;
- del Toro, Mireia
Publication type:
Article
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Published in:
Nature Genetics, 2012, v. 44, n. 3, p. 338, doi. 10.1038/ng.1084
By:
- Anderson, Beverley H;
- Kasher, Paul R;
- Mayer, Josephine;
- Szynkiewicz, Marcin;
- Jenkinson, Emma M;
- Bhaskar, Sanjeev S;
- Urquhart, Jill E;
- Daly, Sarah B;
- Dickerson, Jonathan E;
- O'Sullivan, James;
- Leibundgut, Elisabeth Oppliger;
- Muter, Joanne;
- Abdel-Salem, Ghada M H;
- Babul-Hirji, Riyana;
- Baxter, Peter;
- Berger, Andrea;
- Bonafé, Luisa;
- Brunstom-Hernandez, Janice E;
- Buckard, Johannes A;
- Chitayat, David
Publication type:
Article
Type I interferon regulates interleukin-1beta and IL-18 production and secretion in human macrophages.
Published in:
Life Science Alliance, 2024, v. 7, n. 6, p. 1, doi. 10.26508/lsa.202302399
By:
- Díaz-Pino, Rodrigo;
- Rice, Gillian I.;
- San Felipe, Diego;
- Pepanashvili, Tamar;
- Kasher, Paul R.;
- Briggs, Tracy A.;
- López-Castejón, Gloria
Publication type:
Article
Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome.
Published in:
Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1100967
By:
- Withers, Sarah E.;
- Rowlands, Charlie F.;
- Tapia, Victor S.;
- Hedley, Frances;
- Mosneag, Ioana-Emilia;
- Crilly, Siobhan;
- Rice, Gillian I.;
- Badrock, Andrew P.;
- Hayes, Andrew;
- Allan, Stuart M.;
- Briggs, Tracy A.;
- Kasher, Paul R.
Publication type:
Article
FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms.
Published in:
Cardiovascular Research, 2024, v. 120, n. 10, p. 1164, doi. 10.1093/cvr/cvae104
By:
- Monaghan, Richard M;
- Naylor, Richard W;
- Flatman, Daisy;
- Kasher, Paul R;
- Williams, Simon G;
- Keavney, Bernard D
Publication type:
Article
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Published in:
Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 143, doi. 10.1093/brain/awq287
By:
- Namavar, Yasmin;
- Barth, Peter G.;
- Kasher, Paul R.;
- van Ruissen, Fred;
- Brockmann, Knut;
- Bernert, Günther;
- Writzl, Karin;
- Ventura, Karen;
- Cheng, Edith Y.;
- Ferriero, Donna M.;
- Basel-Vanagaite, Lina;
- Eggens, Veerle R. C.;
- Krägeloh-Mann, Ingeborg;
- De Meirleir, Linda;
- King, Mary;
- Graham, John M.;
- von Moers, Arpad;
- Knoers, Nine;
- Sztriha, Laszlo;
- Korinthenberg, Rudolf
Publication type:
Article
Dirty Fish Versus Squeaky Clean Mice: Dissecting Interspecies Differences Between Animal Models of Interferonopathy.
Published in:
Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.623650
By:
- Rutherford, Holly A.;
- Kasher, Paul R.;
- Hamilton, Noémie
Publication type:
Article
Editorial: Innovative models of stroke pathology.
Published in:
Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1266075
By:
- Crilly, Siobhan;
- Zille, Marietta;
- Kasher, Paul R.;
- Modo, Michel
Publication type:
Article
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 2, p. 358, doi. 10.1093/hmg/ddr471
By:
- Weterman, Marian A.J.;
- Sorrentino, Vincenzo;
- Kasher, Paul R.;
- Jakobs, Marja E.;
- van Engelen, Baziel G.M.;
- Fluiter, Kees;
- de Wissel, Marit B.;
- Sizarov, Aleksander;
- Nürnberg, Gudrun;
- Nürnberg, Peter;
- Zelcer, Noam;
- Schelhaas, H. Jurgen;
- Baas, Frank
Publication type:
Article
RNA-Seq Dataset From Isolated Leukocytes Following Spontaneous Intracerebral Hemorrhage in Zebrafish Larvae.
Published in:
Frontiers in Cellular Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fncel.2021.660732
By:
- Crilly, Siobhan;
- Cooper, James;
- Bradford, Lauren;
- Prise, Ian E.;
- Krishnan, Siddharth;
- Kasher, Paul R.
Publication type:
Article
Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies.
Published in:
BMC Veterinary Research, 2024, v. 20, n. 1, p. 1, doi. 10.1186/s12917-024-04309-z
By:
- Mehmood, Hashir;
- Kasher, Paul R.;
- Barrett-Jolley, Richard;
- Walmsley, Gemma L.
Publication type:
Article
Revisiting promising preclinical intracerebral hemorrhage studies to highlight repurposable drugs for translation.
Published in:
International Journal of Stroke, 2021, v. 16, n. 2, p. 123, doi. 10.1177/1747493020972240
By:
- Crilly, Siobhan;
- Withers, Sarah E;
- Allan, Stuart M;
- Parry-Jones, Adrian R;
- Kasher, Paul R
Publication type:
Article
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 8, p. 1574, doi. 10.1093/hmg/ddr034
By:
- Kasher, Paul R.;
- Namavar, Yasmin;
- van Tijn, Paula;
- Fluiter, Kees;
- Sizarov, Aleksander;
- Kamermans, Maarten;
- Grierson, Andrew J.;
- Zivkovic, Danica;
- Baas, Frank
Publication type:
Article
Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.
Published in:
Journal of Neurochemistry, 2009, v. 110, n. 1, p. 34, doi. 10.1111/j.1471-4159.2009.06104.x
By:
- Kasher, Paul R.;
- De Vos, Kurt J.;
- Wharton, Stephen B.;
- Manser, Catherine;
- Bennett, Ellen J.;
- Bingley, Megan;
- Wood, Jonathan D.;
- Milner, Roy;
- McDermott, Christopher J.;
- Miller, Christopher C. J.;
- Shaw, Pamela J.;
- Grierson, Andrew J.
Publication type:
Article

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