Publications by authors named "Paul Q Thomas"

43Publications

Genome-wide DNA-binding profile of SRY-box transcription factor 3 (SOX3) in mouse testes.

Reprod Fertil Dev 2020 Nov;32(16):1260-1270

School of Biological Sciences and Robinson Research Institute, University of Adelaide, North Terrace, Adelaide, SA 5005, Australia; and Adelaide Medical School, University of Adelaide, North Terrace, Adelaide, SA 5005, Australia; and Precision Medicine Theme, South Australia Health and Medical Research Institute, North Terrace, Adelaide, SA 5000, Australia; and Corresponding author. Email:

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http://dx.doi.org/10.1071/RD20108DOI Listing
November 2020

Progress Toward Zygotic and Germline Gene Drives in Mice.

CRISPR J 2020 10;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

Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics.

Curr Opin Genet Dev 2020 Jul 26;65:169-175. Epub 2020 Jul 26.

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

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http://dx.doi.org/10.1016/j.gde.2020.06.012DOI Listing
July 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

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.

Mol Brain 2020 03 30;13(1):52. Epub 2020 Mar 30.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria, 3052, Australia.

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http://dx.doi.org/10.1186/s13041-020-00584-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106796PMC
March 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

Expanding the RNA-Guided Endonuclease Toolkit for Mouse Genome Editing.

CRISPR J 2018 12;1:431-439

1 Department of Molecular and Cellular Biology and Robinson Research Institute, University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1089/crispr.2018.0050DOI Listing
December 2018

Pest demography critically determines the viability of synthetic gene drives for population control.

Math Biosci 2018 11 13;305:160-169. Epub 2018 Sep 13.

School of Mathematical Sciences, The University of Adelaide, Adelaide, South Australia 5005, Australia.

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http://dx.doi.org/10.1016/j.mbs.2018.09.005DOI Listing
November 2018

Large deletions induced by Cas9 cleavage.

Nature 2018 08 8;560(7717):E8-E9. Epub 2018 Aug 8.

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

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http://www.nature.com/articles/s41586-018-0380-z
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http://dx.doi.org/10.1038/s41586-018-0380-zDOI Listing
August 2018

Precision medicine approaches may be the future for CRLF2 rearranged Down Syndrome Acute Lymphoblastic Leukaemia patients.

Cancer Lett 2018 09 4;432:69-74. Epub 2018 Jun 4.

Cancer Theme, South Australian Health & Medical Research Institute, Adelaide, SA, Australia; Discipline of Medicine, University of Adelaide, Adelaide, SA, Australia; School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia; Australian and New Zealand Children's Haematology/Oncology Group (ANZCHOG), Australia; The Kids' Cancer Project, Australia; Australian Genomic Health Alliance (AGHA), Australia; Discipline of Paediatrics, University of Adelaide, Adelaide, SA, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.canlet.2018.05.045DOI Listing
September 2018

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.

Neurobiol Dis 2018 08 12;116:106-119. Epub 2018 May 12.

School of Medicine, The University of Adelaide, Adelaide 5005, Australia; Robinson Research Institute, The University of Adelaide, Adelaide 5006, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.05.004DOI Listing
August 2018

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

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

In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts.

Data Brief 2016 Jun 17;7:282-90. Epub 2016 Feb 17.

Department of Molecular Pathology, The Institute of Medical and Veterinary Science and The Hanson Institute, P.O. Box 14 Rundle Mall Post Office, Adelaide, SA 5000, Australia; School of Medicine, Faculty of Health Sciences, University of Adelaide, Adelaide, SA 5005, Australia.

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http://dx.doi.org/10.1016/j.dib.2016.01.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773576PMC
June 2016

Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain.

Genomics 2016 Mar 21;107(2-3):88-99. Epub 2016 Jan 21.

Department of Molecular Pathology, The Institute of Medical and Veterinary Science and The Hanson Institute, P.O. Box 14 Rundle Mall Post Office, Adelaide, SA 5000, Australia; School of Medicine, Faculty of Health Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2016.01.006DOI Listing
March 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

SOX3 expression in the glial system of the developing and adult mouse cerebellum.

Springerplus 2015 7;4:400. Epub 2015 Aug 7.

Discipline of Biochemistry, School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1186/s40064-015-1194-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527974PMC
August 2015

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Hum Mol Genet 2015 Sep 29;24(18):5250-9. Epub 2015 Jun 29.

School of Paediatrics and Reproductive Health, School of Molecular and Biomedical Sciences, SA Pathology, Adelaide, Australia, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia,

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http://dx.doi.org/10.1093/hmg/ddv245DOI Listing
September 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

Differential modulation of motor cortex excitability in BDNF Met allele carriers following experimentally induced and use-dependent plasticity.

Eur J Neurosci 2012 Sep 13;36(5):2640-9. Epub 2012 Jun 13.

Discipline of Physiology, School of Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1111/j.1460-9568.2012.08177.xDOI Listing
September 2012

Survival and differentiation of pituitary colony-forming cells in vivo.

Stem Cells 2007 Jul 29;25(7):1730-6. Epub 2007 Mar 29.

Pituitary Research Unit, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1634/stemcells.2007-0012DOI Listing
July 2007

Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.

Front Biosci 2007 Jan 1;12:2085-95. Epub 2007 Jan 1.

Pituitary Research Unit, Murdoch Childrens Research Institute, Royal Childrens Hospital, Melbourne, Australia.

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http://dx.doi.org/10.2741/2213DOI Listing
January 2007

A role for angiotensin-converting enzyme in the characterization, enrichment, and proliferation potential of adult murine pituitary colony-forming cells.

Stem Cells 2006 Nov 20;24(11):2382-90. Epub 2006 Jul 20.

Pituitary Research Unit, Murdoch Childrens Research Institute, Royal Childrens Hospital, Parkville, Victoria, 3052, Australia.

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http://dx.doi.org/10.1634/stemcells.2006-0085DOI Listing
November 2006

Persistent expression of Notch2 delays gonadotrope differentiation.

Mol Endocrinol 2006 Nov 13;20(11):2898-908. Epub 2006 Jul 13.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0638, USA.

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http://dx.doi.org/10.1210/me.2005-0394DOI Listing
November 2006

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.

Am J Hum Genet 2005 May 30;76(5):833-49. Epub 2005 Mar 30.

London Centre for Paediatric Endocrinology, Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, University College London, London, United Kingdom.

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http://dx.doi.org/10.1086/430134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199372PMC
May 2005

SOX3 is required during the formation of the hypothalamo-pituitary axis.

Nat Genet 2004 Mar 15;36(3):247-55. Epub 2004 Feb 15.

Division of Developmental Genetics, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.

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http://dx.doi.org/10.1038/ng1309DOI Listing
March 2004

Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?

AJNR Am J Neuroradiol 2002 Oct;23(9):1475-81

Department of Radiology, Royal Children's Hospital, Melbourne, Australia.

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October 2002

Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism.

Genomics 2002 Apr;79(4):553-9

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia, 3052.

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http://dx.doi.org/10.1006/geno.2002.6741DOI Listing
April 2002