Colin A Johnson

Colin A Johnson

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Colin A Johnson

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The Nuclear Arsenal of Cilia.

Dev Cell 2019 Apr;49(2):161-170

Bateson Centre and The Department of Biomedical Science, The University of Sheffield, Sheffield S10 2TN, UK.

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http://dx.doi.org/10.1016/j.devcel.2019.03.009DOI Listing
April 2019

Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.

Front Pediatr 2017 20;5:244. Epub 2017 Nov 20.

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

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http://dx.doi.org/10.3389/fped.2017.00244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701918PMC
November 2017

The Cilium: Cellular Antenna and Central Processing Unit.

Trends Cell Biol 2017 02 12;27(2):126-140. Epub 2016 Sep 12.

Wellcome Trust Brenner Building, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Beckett Street, Leeds LS9 7TF, UK. Electronic address:

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http://dx.doi.org/10.1016/j.tcb.2016.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278183PMC
February 2017

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

Ciliogenesis and the DNA damage response: a stressful relationship.

Cilia 2016 22;5:19. Epub 2016 Jun 22.

Genome Stability Group, Department of Oncology and Metabolism, Academic Unit of Molecular Oncology, Medical School, University of Sheffield, Beech Hill Road, Sheffield, S10 2RX UK.

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http://dx.doi.org/10.1186/s13630-016-0040-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4916530PMC
June 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Am J Hum Genet 2016 Apr 17;98(4):615-26. Epub 2016 Mar 17.

Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833197PMC
April 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

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

IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.

Dev Cell 2014 Nov 30;31(3):279-290. Epub 2014 Oct 30.

Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2014.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254547PMC
November 2014

Unraveling the genetics of Joubert and Meckel-Gruber syndromes.

J Pediatr Genet 2014 Nov;3(2):65-78

Department of Ophthalmology and Neuroscience, University of Leeds, UK.

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http://dx.doi.org/10.3233/PGE-14090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340537PMC
November 2014

Mutations in TJP2 cause progressive cholestatic liver disease.

Nat Genet 2014 Apr 9;46(4):326-8. Epub 2014 Mar 9.

1] Institute of Liver Studies, Division of Transplantation Immunology and Mucosal Biology, King's College London School of Medicine, London, UK. [2] Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.

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http://dx.doi.org/10.1038/ng.2918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061468PMC
April 2014

The role of primary cilia in the development and disease of the retina.

Organogenesis 2014 Jan 25;10(1):69-85. Epub 2013 Oct 25.

Section of Ophthalmology and Neurosciences; Leeds Institute of Molecular Medicine; The University of Leeds; Leeds, United Kingdom.

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http://dx.doi.org/10.4161/org.26710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049897PMC
January 2014

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.

Dev Biol 2013 May 27;377(1):55-66. Epub 2013 Feb 27.

Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, Beckett Street, The University of Leeds, Leeds, LS9 7 TF, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S001216061300107
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http://dx.doi.org/10.1016/j.ydbio.2013.02.015DOI Listing
May 2013

Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies.

Exp Cell Res 2013 Feb 8;319(3):161-72. Epub 2012 Oct 8.

Division of Clinical Sciences, Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, University of Leeds, Leeds, West Yorkshire, UK.

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http://dx.doi.org/10.1016/j.yexcr.2012.10.002DOI Listing
February 2013

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

The transition zone: an essential functional compartment of cilia.

Cilia 2012 Jul 2;1(1):10. Epub 2012 Jul 2.

Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St, James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.1186/2046-2530-1-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3555838PMC
July 2012

A meckelin-filamin A interaction mediates ciliogenesis.

Hum Mol Genet 2012 Mar 25;21(6):1272-86. Epub 2011 Nov 25.

Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1093/hmg/ddr557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284117PMC
March 2012

Identification of autosomal recessive disease loci using out-bred nuclear families.

Hum Mutat 2012 Feb 28;33(2):338-42. Epub 2011 Nov 28.

School of Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.21645DOI Listing
February 2012

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.

Hum Mutat 2011 Dec 19;32(12):1359-66. Epub 2011 Sep 19.

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

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http://dx.doi.org/10.1002/humu.21597DOI Listing
December 2011

Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

Mol Neurobiol 2011 Feb 27;43(1):12-26. Epub 2010 Nov 27.

Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.

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http://link.springer.com/content/pdf/10.1007/s12035-010-8154
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http://link.springer.com/10.1007/s12035-010-8154-0
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http://dx.doi.org/10.1007/s12035-010-8154-0DOI Listing
February 2011

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

Science 2010 Sep 29;329(5997):1337-40. Epub 2010 Jul 29.

Section of Molecular Cell and Developmental Biology and Institute for Cellular and Molecular Biology, University of Texas at Austin, Austin, TX 78712, USA.

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http://dx.doi.org/10.1126/science.1191184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509789PMC
September 2010

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders.

Hum Mutat 2009 Dec;30(12):1642-9

Division of Molecular & Translational Medicine, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.21105DOI Listing
December 2009

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton.

J Cell Sci 2009 Aug 13;122(Pt 15):2716-26. Epub 2009 Jul 13.

Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK.

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http://jcs.biologists.org/cgi/doi/10.1242/jcs.043794
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http://dx.doi.org/10.1242/jcs.043794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909318PMC
August 2009

Jouberin localizes to collecting ducts and interacts with nephrocystin-1.

Kidney Int 2008 Nov 16;74(9):1139-49. Epub 2008 Jul 16.

Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle Upon Tyne, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00852538155349
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http://dx.doi.org/10.1038/ki.2008.377DOI Listing
November 2008

Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

Am J Med Genet A 2007 Dec;143A(23):2768-74

Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, Islamabad, Pakistan.

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http://dx.doi.org/10.1002/ajmg.a.31739DOI Listing
December 2007

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

Eur J Hum Genet 2007 Feb 15;15(2):173-8. Epub 2006 Nov 15.

Department of Medical and Molecular Genetics, School of Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201736DOI Listing
February 2007

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

Am J Hum Genet 2006 Jan 28;78(1):160-6. Epub 2005 Nov 28.

Section of Medical and Molecular Genetics, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, United Kingdom.

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http://dx.doi.org/10.1086/499338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380215PMC
January 2006

Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6.

Development 2005 Dec;132(23):5295-306

Division of Gastroenterology and Nutrition, The Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1242/dev.02140DOI Listing
December 2005

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.

Hum Genet 2005 Sep 16;117(5):452-9. Epub 2005 Jun 16.

Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.

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http://link.springer.com/content/pdf/10.1007/s00439-005-1309
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http://link.springer.com/10.1007/s00439-005-1309-9
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http://dx.doi.org/10.1007/s00439-005-1309-9DOI Listing
September 2005

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

Hum Genet 2002 Oct 7;111(4-5):456-61. Epub 2002 Sep 7.

Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham, B15 2TT, UK.

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http://dx.doi.org/10.1007/s00439-002-0817-0DOI Listing
October 2002

Human class I histone deacetylase complexes show enhanced catalytic activity in the presence of ATP and co-immunoprecipitate with the ATP-dependent chaperone protein Hsp70.

J Biol Chem 2002 Mar 2;277(11):9590-7. Epub 2002 Jan 2.

Chromatin and Gene Expression Group, Department of Anatomy, University of Birmingham Medical School, Birmingham B15 2TT, United Kingdom.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M107942200
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http://dx.doi.org/10.1074/jbc.M107942200DOI Listing
March 2002