Owen M Siggs

Owen M Siggs

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Owen M Siggs

Owen M Siggs

Publications by authors named "Owen M Siggs"

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47Publications

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Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in .

Mol Vis 2019 21;25:527-534. Epub 2019 Sep 21.

Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817736PMC
September 2019

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.

Ophthalmic Genet 2019 02 2;40(1):12-16. Epub 2019 Jan 2.

a Department of Ophthalmology , Flinders University, Flinders Medical Centre , Adelaide , Australia.

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http://dx.doi.org/10.1080/13816810.2018.1561904DOI Listing
February 2019

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

Eur J Hum Genet 2017 06 8;25(6):711-718. Epub 2017 Mar 8.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2017.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477362PMC
June 2017

Mutation of the ER retention receptor KDELR1 leads to cell-intrinsic lymphopenia and a failure to control chronic viral infection.

Proc Natl Acad Sci U S A 2015 Oct 5;112(42):E5706-14. Epub 2015 Oct 5.

Department of Genetics, The Scripps Research Institute, La Jolla, CA 92037; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390

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http://dx.doi.org/10.1073/pnas.1515619112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620900PMC
October 2015

Quantitative reduction of the TCR adapter protein SLP-76 unbalances immunity and immune regulation.

J Immunol 2015 Mar 6;194(6):2587-95. Epub 2015 Feb 6.

Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory 2601, Australia;

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http://www.jimmunol.org/content/early/2015/02/05/jimmunol.14
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http://www.jimmunol.org/cgi/doi/10.4049/jimmunol.1400326
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http://dx.doi.org/10.4049/jimmunol.1400326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355390PMC
March 2015

Dissecting mammalian immunity through mutation.

Authors:
Owen M Siggs

Immunol Cell Biol 2014 May-Jun;92(5):392-9. Epub 2014 Feb 11.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/icb.2014.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038135PMC
January 2015

Genetic interaction implicates iRhom2 in the regulation of EGF receptor signalling in mice.

Biol Open 2014 Nov 13;3(12):1151-7. Epub 2014 Nov 13.

Dunn School of Pathology, South Parks Road, Oxford OX1 3RE, UK

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http://dx.doi.org/10.1242/bio.201410116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265752PMC
November 2014

A ZAP-70 kinase domain variant prevents thymocyte-positive selection despite signalling CD69 induction.

Immunology 2014 Apr;141(4):587-95

Department of Immunology, John Curtin School of Medical Research, The Australian National University, Canberra, ACT, Australia.

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http://doi.wiley.com/10.1111/imm.12220
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http://dx.doi.org/10.1111/imm.12220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3956432PMC
April 2014

The BTB-ZF transcription factors.

Cell Cycle 2012 Sep 16;11(18):3358-69. Epub 2012 Aug 16.

Department of Genetics, The Scripps Research Institute, La Jolla, CA, USA.

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http://dx.doi.org/10.4161/cc.21277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466544PMC
September 2012

Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease.

Proc Natl Acad Sci U S A 2012 Aug 6;109(34):13733-8. Epub 2012 Aug 6.

Department of Genetics, The Scripps Research Institute, La Jolla, CA 92037, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1211499109
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http://dx.doi.org/10.1073/pnas.1211499109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427069PMC
August 2012

A forward genetic screen reveals roles for Nfkbid, Zeb1, and Ruvbl2 in humoral immunity.

Proc Natl Acad Sci U S A 2012 Jul 3;109(31):12286-93. Epub 2012 Jul 3.

Department of Genetics, The Scripps Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1073/pnas.1209134109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411946PMC
July 2012

iRhom2 is required for the secretion of mouse TNFα.

Blood 2012 Jun 1;119(24):5769-71. Epub 2012 May 1.

Department of Genetics, The Scripps Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1182/blood-2012-03-417949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3382936PMC
June 2012

Increased susceptibility to DNA virus infection in mice with a GCN2 mutation.

J Virol 2012 Feb 23;86(3):1802-8. Epub 2011 Nov 23.

Department of Genetics, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA.

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http://dx.doi.org/10.1128/JVI.05660-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3264364PMC
February 2012

ZBTB1 is a determinant of lymphoid development.

J Exp Med 2012 Jan 26;209(1):19-27. Epub 2011 Dec 26.

Department of Genetics, The Scripps Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1084/jem.20112084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260866PMC
January 2012

The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow.

Nat Immunol 2011 May 20;12(5):434-40. Epub 2011 Mar 20.

Department of Genetics, The Scripps Research Institute, La Jolla, California, USA.

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http://www.nature.com/articles/ni.2012
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http://dx.doi.org/10.1038/ni.2012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079768PMC
May 2011

X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C.

Proc Natl Acad Sci U S A 2011 May 25;108(19):7890-5. Epub 2011 Apr 25.

Department of Genetics, The Scripps Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1073/pnas.1104631108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3093471PMC
May 2011

Unravelling the association of partial T-cell immunodeficiency and immune dysregulation.

Nat Rev Immunol 2008 Jul;8(7):545-58

John Curtin School of Medical Research, Australian National University, Canberra, ACT 0200, Australia.

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http://dx.doi.org/10.1038/nri2336DOI Listing
July 2008

Tracing the action of IL-2 in tolerance to islet-specific antigen.

Immunol Cell Biol 2007 Jun 20;85(4):338-42. Epub 2007 Mar 20.

Immunogenomics Laboratory, John Curtin School of Medical Research and The Australian Phenomics Facility, The Australian National University, Canberra 2601, Australia.

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http://doi.wiley.com/10.1038/sj.icb.7100049
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http://dx.doi.org/10.1038/sj.icb.7100049DOI Listing
June 2007