Publications by authors named "James A Poulter"

42Publications

Inflammasome inhibition under physiological and pharmacological conditions.

Genes Immun 2020 08 17;21(4):211-223. Epub 2020 Jul 17.

Leeds Institute of Rheumatic and Musculoskeletal Medicine, St James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.1038/s41435-020-0104-xDOI Listing
August 2020

Novel loss-of-function mutation in is associated with severe developmental delay and paediatric lethality.

J Med Genet 2020 Jun 22. Epub 2020 Jun 22.

Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK

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http://dx.doi.org/10.1136/jmedgenet-2020-106873DOI Listing
June 2020

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Ophthalmology 2019 10 21;126(10):1410-1421. Epub 2019 Mar 21.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, St. Mary's Hospital, Manchester, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183317
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http://dx.doi.org/10.1016/j.ophtha.2019.03.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856713PMC
October 2019

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Front Physiol 2017 26;8:435. Epub 2017 Jun 26.

Section of Ophthalmology and Neuroscience, St. James's University Hospital, University of LeedsLeeds, United Kingdom.

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http://dx.doi.org/10.3389/fphys.2017.00435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5483479PMC
June 2017

A Fourth Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.

Front Physiol 2017 29;8:333. Epub 2017 May 29.

Department of Oral Biology, School of Dentistry, St James's University Hospital, University of LeedsLeeds, United Kingdom.

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http://dx.doi.org/10.3389/fphys.2017.00333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447068PMC
May 2017

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.

Eur J Hum Genet 2017 08 17;25(8):1015-1019. Epub 2017 May 17.

Leeds Institute of Biomedical and Clinical Sciences, St. James's University Hospital, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1038/ejhg.2017.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511509PMC
August 2017

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.

Hum Mol Genet 2017 05;26(10):1863-1876

Faculty of Biology, Medicine & Health, Manchester Academic Health Sciences Centre, University of Manchester, Michael Smith Building, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1093/hmg/ddx090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411757PMC
May 2017

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA Ophthalmol 2017 04;135(4):339-347

Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.0046DOI Listing
April 2017

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.

Retina 2018 Mar;38(3):620-628

University College London Institute of Ophthalmology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1097/IAE.0000000000001570DOI Listing
March 2018

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Am J Hum Genet 2016 Oct 29;99(4):984-990. Epub 2016 Sep 29.

Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK; School of Dentistry, Department of Oral Biology, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065684PMC
October 2016

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.

Hum Mol Genet 2016 08 12;25(16):3578-3587. Epub 2016 Jul 12.

Leeds Institute of Biomedical and Clinical Sciences, St James's University Hospital, University of Leeds, Leeds LS9 7TF, UK,

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http://dx.doi.org/10.1093/hmg/ddw203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5179951PMC
August 2016

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Eur J Hum Genet 2016 11 15;24(11):1565-1571. Epub 2016 Jun 15.

Leeds Institute of Biomedical and Clinical Sciences, St. James's University Hospital, University of Leeds, Leeds, UK.

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http://www.nature.com/doifinder/10.1038/ejhg.2016.62
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http://dx.doi.org/10.1038/ejhg.2016.62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026821PMC
November 2016

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Mol Genet Genomic Med 2015 Nov 4;3(6):543-9. Epub 2015 Oct 4.

Section of Ophthalmology and NeuroscienceUniversity of LeedsLeedsUnited Kingdom; Department of Oral MedicineSchool of DentistryUniversity of LeedsLeedsUnited Kingdom.

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http://dx.doi.org/10.1002/mgg3.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694127PMC
November 2015

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

Hum Mol Genet 2014 Oct 23;23(20):5317-24. Epub 2014 May 23.

Leeds Institute of Biomedical and Clinical Sciences, St James's University Hospital, University of Leeds, Leeds LS9 7TF, UK School of Dentistry, University of Leeds, Leeds LS2 9LU, UK

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http://dx.doi.org/10.1093/hmg/ddu247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168819PMC
October 2014

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

Hum Mol Genet 2014 Apr 6;23(8):2189-97. Epub 2013 Dec 6.

Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1093/hmg/ddt616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959822PMC
April 2014

Patterns of inheritance, not always easily visible.

BMJ 2013 Nov 6;347:f6610. Epub 2013 Nov 6.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1136/bmj.f6610DOI Listing
November 2013

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

Eur J Hum Genet 2014 Jan 1;22(1):132-5. Epub 2013 May 1.

1] Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK [2] Department of Oral Medicine, Leeds Dental Institute, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1038/ejhg.2013.76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865405PMC
January 2014