Chris F Inglehearn

Chris F Inglehearn

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Chris F Inglehearn

Publications by authors named "Chris F Inglehearn"

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Matrix metalloproteinases in keratoconus - Too much of a good thing?

Exp Eye Res 2019 May 23;182:137-143. Epub 2019 Mar 23.

Section of Ophthalmology and Neuroscience, Leeds Institute of Medical Research, University of Leeds, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00144835183079
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http://dx.doi.org/10.1016/j.exer.2019.03.016DOI Listing
May 2019

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

Ophthalmology 2019 Mar 21. 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
March 2019

LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.

Eur J Med Genet 2018 Nov 23. Epub 2018 Nov 23.

Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183010
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http://dx.doi.org/10.1016/j.ejmg.2018.11.026DOI Listing
November 2018

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.

Am J Ophthalmol 2018 04 5;188:123-130. Epub 2018 Feb 5.

Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2018.01.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873517PMC
April 2018

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

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

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

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

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.

Am J Med Genet A 2016 07 5;170(7):1826-31. Epub 2016 May 5.

Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37690DOI Listing
July 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

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 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

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Hum Mol Genet 2014 Oct 3;23(20):5527-35. Epub 2014 Jun 3.

Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool L69 3GA, UK

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http://dx.doi.org/10.1093/hmg/ddu253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168824PMC
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

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.

Cornea 2014 Mar;33(3):247-51

*Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kingdom; †Department of Ophthalmology, St James's University Hospital, Leeds, United Kingdom; ‡Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico; §Department of Genetics, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico; and ¶Department of Ophthalmology, Bradford Royal Infirmary, Bradford, United Kingdom.

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http://dx.doi.org/10.1097/ICO.0000000000000041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195577PMC
March 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

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

Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

Genomics 2011 Oct 19;98(4):302-9. Epub 2011 May 19.

Leeds Institute of Molecular Medicine, University of Leeds, UK.

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http://dx.doi.org/10.1016/j.ygeno.2011.05.004DOI Listing
October 2011

Changing the status quo bias.

Br J Ophthalmol 2011 Jul 17;95(7):1034. Epub 2011 Jan 17.

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http://dx.doi.org/10.1136/bjo.2010.200428DOI Listing
July 2011

The influence of lamellar orientation on corneal material behavior: biomechanical and structural changes in an avian corneal disorder.

Invest Ophthalmol Vis Sci 2011 Mar 10;52(3):1243-51. Epub 2011 Mar 10.

Structural Biophysics Group, School of Optometry and Vision Sciences, Cardiff University, Cardiff, United Kingdom.

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http://dx.doi.org/10.1167/iovs.10-5962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101698PMC
March 2011

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.

Arch Ophthalmol 2010 Jan;128(1):107-13

Department of Ophthalmology, St. James's University Hospital, Beckett Street, Leeds LS9 7TF, England.

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http://dx.doi.org/10.1001/archophthalmol.2010.309DOI Listing
January 2010

Proteomic profiling of the retinal dysplasia and degeneration chick retina.

Mol Vis 2010 Jan 11;16:7-17. Epub 2010 Jan 11.

Centre for Vision Sciences, Institute of Clinical Science, Queen's University of Belfast, Belfast, Northern Ireland, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805419PMC
January 2010

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan.

J Coll Physicians Surg Pak 2009 Dec;19(12):806-8

Department of Medicine, The Aga Khan University Hospital, Karachi.

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http://dx.doi.org/12.2009/JCPSP.806808DOI 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

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Ophthalmology 2009 Aug 5;116(8):1522-4. Epub 2009 Jun 5.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1016/j.ophtha.2009.02.032DOI Listing
August 2009

Replication of the recessive STBMS1 locus but with dominant inheritance.

Invest Ophthalmol Vis Sci 2009 Jul 14;50(7):3210-7. Epub 2009 Feb 14.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1167/iovs.07-1631DOI Listing
July 2009

Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea.

J Struct Biol 2009 May 1;166(2):195-204. Epub 2009 Mar 1.

Structural Biophysics Group, School of Optometry and Vision Sciences, Cardiff University, Maindy Road, Cardiff CF24 4LU, UK.

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http://dx.doi.org/10.1016/j.jsb.2009.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680986PMC
May 2009

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

Mol Vis 2008 30;14:1960-4. Epub 2008 Oct 30.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2576480PMC
March 2009

Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.

Mol Vis 2008 18;14:2357-66. Epub 2008 Dec 18.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Leeds, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603472PMC
March 2009

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration.

Invest Ophthalmol Vis Sci 2008 Sep 14;49(9):3830-8. Epub 2008 Jun 14.

F. M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1167/iovs.07-1483DOI Listing
September 2008

Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged (rge) phenotype--an X-ray diffraction study.

J Struct Biol 2008 Jan 7;161(1):1-8. Epub 2007 Sep 7.

Structural Biophysics Group, School of Optometry and Vision Sciences, Cardiff University, Maindy Road, Cardiff CF24 4LU, UK.

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http://dx.doi.org/10.1016/j.jsb.2007.08.015DOI Listing
January 2008

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.

Nat Struct Mol Biol 2007 Nov 14;14(11):1077-83. Epub 2007 Oct 14.

Wellcome Trust Centre for Cell Biology, University of Edinburgh, King's Buildings, Mayfield Road, Edinburgh EH9 3JR, UK.

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http://dx.doi.org/10.1038/nsmb1303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584834PMC
November 2007

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Am J Ophthalmol 2007 Apr 15;143(4):656-62. Epub 2007 Feb 15.

Ocular Diagnostic Clinic, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ajo.2006.12.038DOI Listing
April 2007

Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens.

Invest Ophthalmol Vis Sci 2006 Nov;47(11):4714-8

Molecular Vision Group, School of Contemporary Sciences, University of Abertay, Dundee DD1 1HG, United Kingdom.

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http://dx.doi.org/10.1167/iovs.06-0292DOI Listing
November 2006

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

Am J Hum Genet 2006 May 21;78(5):889-896. Epub 2006 Mar 21.

Section of Ophthalmology and Neuroscience, Institute of Molecular Medicine, Epidemiology and Cancer Research, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1086/503875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474039PMC
May 2006

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.

Exp Cell Res 2004 Nov;300(2):283-96

Department of Molecular Biology, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo 060-0812, Japan.

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http://dx.doi.org/10.1016/j.yexcr.2004.07.029DOI Listing
November 2004

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Mol Vis 2004 Jan 15;10:37-42. Epub 2004 Jan 15.

Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds, UK.

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January 2004

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

Eur J Hum Genet 2003 May;11(5):420-3

Molecular Medicine Unit, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5200981DOI Listing
May 2003

Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa.

Mol Vis 2003 Apr 30;9:164-70. Epub 2003 Apr 30.

Division of Genomics and Bioinformatics, Roslin Institute, Edinburgh, Midlothian, UK.

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April 2003