Alan J Mighell

Alan J Mighell

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Alan J Mighell

Alan J Mighell

Publications by authors named "Alan J Mighell"

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Dentin dysplasia: diagnostic challenges.

BMJ Case Rep 2018 Jun 11;2018. Epub 2018 Jun 11.

Restorative Dentistry, Leeds Dental Institute, Leeds, West Yorkshire, UK.

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http://dx.doi.org/10.1136/bcr-2017-223942DOI Listing
June 2018

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; 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

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

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

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

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

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.

J Allergy Clin Immunol 2016 Mar 10;137(3):955-7.e8. Epub 2015 Nov 10.

Section of Ophthalmology and Neuroscience, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom; School of Dentistry, University of Leeds, Leeds, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.08.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775071PMC
March 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

Are plasma cell-rich inflammatory conditions of the oral mucosa manifestations of IgG4-related disease?

J Clin Pathol 2015 Oct 8;68(10):802-7. Epub 2015 Jun 8.

Department of Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

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http://dx.doi.org/10.1136/jclinpath-2014-202814DOI Listing
October 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

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Orphanet J Rare Dis 2014 Jun 14;9:84. Epub 2014 Jun 14.

Laboratory of Molecular Oral Pathophysiology, INSERM UMRS 1138, Cordeliers Research Center, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-9-84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071802PMC
June 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

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

So you want to be ... an oral medicine physician.

Br J Hosp Med (Lond) 2009 Dec;70(12):M192

Oral Medicine, Charles Clifford Dental Hospital, Sheffield S10 2SZ.

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http://dx.doi.org/10.12968/hmed.2009.70.Sup12.45522DOI Listing
December 2009

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

Am J Hum Genet 2009 Nov 22;85(5):699-705. Epub 2009 Oct 22.

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

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http://dx.doi.org/10.1016/j.ajhg.2009.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775821PMC
November 2009

Phenotypic changes associated with DYNACTIN-2 (DCTN2) over expression characterise SJSA-1 osteosarcoma cells.

Mol Carcinog 2006 Mar;45(3):157-63

Molecular Medicine Unit, The University of Leeds, St. James's University Hospital, Leeds, United Kingdom.

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http://doi.wiley.com/10.1002/mc.20151
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http://dx.doi.org/10.1002/mc.20151DOI Listing
March 2006

Expression of mOb1, a novel atypical 73 amino acid K50-homeodomain protein, during mouse development.

Mech Dev 2002 Dec;119 Suppl 1:S43-7

Molecular Medicine Unit, Clinical Sciences Building, St. James's University Hospital, The University of Leeds, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1016/s0925-4773(03)00090-xDOI Listing
December 2002

Expression of mOb1, a novel atypical 73 amino acid K50-homeodomain protein, during mouse development.

Gene Expr Patterns 2002 Nov;2(1-2):39-43

Molecular Medicine Unit, Clinical Sciences Building, St. James's University Hospital, The University of Leeds, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1016/s0925-4773(02)00354-4DOI Listing
November 2002