Publications by authors named "James N Hughes"

16Publications

Progress Toward Zygotic and Germline Gene Drives in Mice.

CRISPR J 2020 Oct;3(5):388-397

Precision Medicine, South Australian Health and Medical Research Institute, Adelaide, Australia.

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http://dx.doi.org/10.1089/crispr.2020.0050DOI Listing
October 2020

SOX3 promotes generation of committed spermatogonia in postnatal mouse testes.

Sci Rep 2020 04 21;10(1):6751. Epub 2020 Apr 21.

School of Biological Sciences and Robinson Research Institute, University of Adelaide, Adelaide, SA, 5005, Australia.

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http://dx.doi.org/10.1038/s41598-020-63290-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174399PMC
April 2020

Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy.

Neurobiol Dis 2020 02 19;134:104640. Epub 2019 Oct 19.

School of Medicine, University of Adelaide, Adelaide, SA 5005, Australia; Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; Precision Medicine Theme, South Australia Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2019.104640DOI Listing
February 2020

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.

Neuron 2018 01;97(1):59-66.e5

School of Biological Sciences and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273173112
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http://dx.doi.org/10.1016/j.neuron.2017.12.005DOI Listing
January 2018

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

N Engl J Med 2017 08;377(6):544-552

From the Divisions of Developmental and Stem Cell Biology (H.S., A.E., M.R., E.M.M.A.M., R.W., J.M., J.O.S., E.I., K.S., J.H., K.K., G.C., D.B.S., S.L.D.), Vascular Biology (G.J.M., R.S.), and Molecular, Structural, and Computational Biology (D.T.H., J.W.K.H., E.G.), Victor Chang Cardiac Research Institute, the Faculties of Medicine and Science, University of New South Wales (H.S., A.E., J.O.S., E.I., D.T.H., G.J.M., J.W.K.H., K.K., R.S., E.G., G.C., D.B.S., S.L.D.), Liverpool Hospital, Department of Clinical Genetics (A.E., A.C.), the Department of Clinical Genetics (A.E., J.S., F.C., D.O.S.) and the Heart Centre for Children (D.S.W.), Children's Hospital at Westmead, the Discipline of Genetic Medicine (A.E., J.S., F.C., D.O.S.) and the Medical School (D.S.W.), University of Sydney, and the Faculty of Medicine and Health Sciences, Macquarie University (C.K.L., G.J.G.) - all in Sydney, the School of Biological Sciences, University of Adelaide, Adelaide, SA (J.N.H., P.Q.T.), and the Institute of Health and Biomedical Innovation, Queensland University of Technology (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Translational Research Institute (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Department of Endocrinology, Royal Brisbane and Women's Hospital (E.L.D.), and the University of Queensland School of Medicine (E.L.D.), Brisbane - all in Australia; and Spectrum Health Medical Group, Medical Genetics, Grand Rapids, MI (P.R.M.).

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http://dx.doi.org/10.1056/NEJMoa1616361DOI Listing
August 2017

Comparison of KP1019 and NAMI-A in tumour-mimetic environments.

Metallomics 2016 08;8(8):762-73

Department of Chemistry, The University of Adelaide, SA 5005, Australia.

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http://xlink.rsc.org/?DOI=C6MT00145A
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http://dx.doi.org/10.1039/c6mt00145aDOI Listing
August 2016

Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.

Clin Endocrinol (Oxf) 2016 Oct 9;85(4):609-15. Epub 2016 Jun 9.

School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1111/cen.13094DOI Listing
October 2016

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation.

Nat Struct Mol Biol 2015 Dec 16;22(12):1008-15. Epub 2015 Nov 16.

Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1038/nsmb.3127DOI Listing
December 2015

Molecular pathology of polyalanine expansion disorders: new perspectives from mouse models.

Methods Mol Biol 2013 ;1017:135-51

School of Molecular and Biomedical Science, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1007/978-1-62703-438-8_10DOI Listing
December 2013

Response to BMP4 signalling during ES cell differentiation defines intermediates of the ectoderm lineage.

J Cell Sci 2010 May 27;123(Pt 10):1796-804. Epub 2010 Apr 27.

School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, SA, 5005, Australia.

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http://dx.doi.org/10.1242/jcs.047530DOI Listing
May 2010

A novel role for gamma-secretase in the formation of primitive streak-like intermediates from ES cells in culture.

Stem Cells 2009 Dec;27(12):2941-51

School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, South Australia, 5005, Australia.

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http://dx.doi.org/10.1002/stem.218DOI Listing
December 2009