Michael S Nahorski

Michael S Nahorski

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Michael S Nahorski

Michael S Nahorski

Publications by authors named "Michael S Nahorski"

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19Publications

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A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site.

Mol Pain 2018 Jan-Dec;14:1744806918809223. Epub 2018 Oct 8.

1 Cambridge Institute for Medical Research, Addenbrooke's Biomedical Research Centre, Cambridge, UK.

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http://dx.doi.org/10.1177/1744806918809223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207963PMC
February 2019

Before progressing from "exomes" to "genomes"… don't forget splicing variants.

Eur J Hum Genet 2018 11 12;26(11):1559-1562. Epub 2018 Jul 12.

Department of Medical Genetics, Cambridge Institute for Medical Research, Hills Road, Cambridge, CB2 0XY, United Kingdom.

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http://dx.doi.org/10.1038/s41431-018-0214-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189206PMC
November 2018

CCDC88A mutations cause PEHO-like syndrome in humans and mouse.

Brain 2016 Apr 25;139(Pt 4):1036-44. Epub 2016 Feb 25.

Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK

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http://dx.doi.org/10.1093/brain/aww014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806221PMC
April 2016

New Mendelian Disorders of Painlessness.

Trends Neurosci 2015 Nov;38(11):712-724

Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.tins.2015.08.010DOI Listing
November 2015

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis.

Hum Mol Genet 2012 Dec 10;21(24):5268-79. Epub 2012 Sep 10.

Department of Medical and Molecular Genetics, Centre for Rare Diseases and Personalized Medicine, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, UK.

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http://dx.doi.org/10.1093/hmg/dds378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755511PMC
December 2012

Gene expression and protein array studies of folliculin-regulated pathways.

Anticancer Res 2012 Nov;32(11):4663-70

Centre for Rare Diseases and Personalised Medicine and Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Birmingham, UK.

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November 2012

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

Hum Mutat 2011 Aug 12;32(8):921-9. Epub 2011 Jul 12.

Centre for Rare Diseases and Personalised Medicine and Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom.

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http://dx.doi.org/10.1002/humu.21519DOI Listing
August 2011

Therapeutic targeting the loss of the birt-hogg-dube suppressor gene.

Mol Cancer Ther 2011 Jan;10(1):80-9

Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham; Edgbaston, Birmingham B15 2TT, The United Kingdom.

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http://dx.doi.org/10.1158/1535-7163.MCT-10-0628DOI Listing
January 2011

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

J Med Genet 2010 Jun;47(6):385-90

Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1136/jmg.2009.073304DOI Listing
June 2010

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Hum Mutat 2010 Jan;31(1):E1043-51

Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1002/humu.21130DOI Listing
January 2010