Ian J Jackson

Ian J Jackson

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Ian J Jackson

Publications by authors named "Ian J Jackson"

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Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function.

Sci Rep 2020 Jan 16;10(1):437. Epub 2020 Jan 16.

MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1038/s41598-019-57398-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965129PMC
January 2020

Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.

Invest Ophthalmol Vis Sci 2019 07;60(8):2875-2887

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1167/iovs.18-25954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6986908PMC
July 2019

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Nat Commun 2018 12 10;9(1):5271. Epub 2018 Dec 10.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1038/s41467-018-07691-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288091PMC
December 2018

Cell signalling: Red alert about lipid's role in skin cancer.

Nature 2017 09 6;549(7672):337-339. Epub 2017 Sep 6.

MRC Human Genetics Unit, University of Edinburgh, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1038/nature23550DOI Listing
September 2017

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability.

J Cell Biol 2017 04 28;216(4):999-1013. Epub 2017 Feb 28.

Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU Scotland, UK

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http://dx.doi.org/10.1083/jcb.201607032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5379941PMC
April 2017

Reconciling diverse mammalian pigmentation patterns with a fundamental mathematical model.

Nat Commun 2016 Jan 6;7:10288. Epub 2016 Jan 6.

Centre for Mathematical Biology, Department of Mathematical Sciences, University of Bath, Claverton Down, Bath BA2 7AY, UK.

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http://dx.doi.org/10.1038/ncomms10288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729835PMC
January 2016

Maintenance of distinct melanocyte populations in the interfollicular epidermis.

Pigment Cell Melanoma Res 2015 Jul 30;28(4):476-80. Epub 2015 Apr 30.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Roslin, UK.

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http://dx.doi.org/10.1111/pcmr.12375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973853PMC
July 2015

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.

Open Biol 2015 Jun;5(6):150047

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1098/rsob.150047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632505PMC
June 2015

Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction.

Invest Ophthalmol Vis Sci 2015 May;56(5):3015-26

MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom 4Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1167/iovs.14-15735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538965PMC
May 2015

The melanocyte lineage in development and disease.

Development 2015 Apr;142(7):1387

MRC Human Genetics Unit and University of Edinburgh Cancer Research UK Cancer Centre, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1242/dev.123729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378253PMC
April 2015

The melanocyte lineage in development and disease.

Development 2015 Feb;142(4):620-32

MRC Human Genetics Unit and Roslin Institute, University of Edinburgh, Edinburgh EH25 9RG, UK.

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http://dx.doi.org/10.1242/dev.106567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4325379PMC
February 2015

Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.

PLoS Genet 2014 Oct 30;10(10):e1004688. Epub 2014 Oct 30.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom; Wolfson Centre for Age-Related Diseases, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1004688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214598PMC
October 2014

A trans-acting protein effect causes severe eye malformation in the Mp mouse.

PLoS Genet 2013 12;9(12):e1003998. Epub 2013 Dec 12.

The MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1003998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861116PMC
August 2014

Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes.

PLoS Genet 2013 26;9(12):e1003928. Epub 2013 Dec 26.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

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http://dx.plos.org/10.1371/journal.pgen.1003928
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http://dx.doi.org/10.1371/journal.pgen.1003928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887133PMC
August 2014

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton.

Dis Model Mech 2014 Jun 24;7(6):711-22. Epub 2014 Apr 24.

MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. The Roslin Institute, University of Edinburgh, Edinburgh EH25 9RG, UK.

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http://dx.doi.org/10.1242/dmm.015222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036478PMC
June 2014

Ex vivo culture of mouse embryonic skin and live-imaging of melanoblast migration.

J Vis Exp 2014 May 19(87). Epub 2014 May 19.

MRC Human Genetics Unit, MRC IGMM, Western General Hospital, University of Edinburgh;

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http://dx.doi.org/10.3791/51352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4193345PMC
May 2014

Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis.

Mol Biol Cell 2014 Apr 19;25(8):1216-33. Epub 2014 Feb 19.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom Edinburgh Cancer Research UK Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1HH, United Kingdom Biomedical Sciences Research Complex Mass Spectrometry and Proteomics Facility, University of St. Andrews, St. Andrews, Fife KY16 9ST, United Kingdom.

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http://dx.doi.org/10.1091/mbc.E13-08-0471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3982988PMC
April 2014

A conditional zebrafish MITF mutation reveals MITF levels are critical for melanoma promotion vs. regression in vivo.

J Invest Dermatol 2014 Jan 5;134(1):133-140. Epub 2013 Jul 5.

MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK; University of Edinburgh Cancer Research UK Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153648
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http://dx.doi.org/10.1038/jid.2013.293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898314PMC
January 2014

How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns.

Authors:
Ian J Jackson

Pigment Cell Melanoma Res 2013 Jul 17;26(4):438-9. Epub 2013 Apr 17.

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http://dx.doi.org/10.1111/pcmr.12101DOI Listing
July 2013

A CNS-specific hypomorphic Pdgfr-beta mutant model of diabetic retinopathy.

Invest Ophthalmol Vis Sci 2013 May 1;54(5):3569-78. Epub 2013 May 1.

MRC Human Genetics Unit, MRC Institute of Genetics & & Molecular Medicine, University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, United Kingdom.

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http://dx.doi.org/10.1167/iovs.12-11125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4025949PMC
May 2013

Signatures of diversifying selection in European pig breeds.

PLoS Genet 2013 Apr 25;9(4):e1003453. Epub 2013 Apr 25.

The Roslin Institute and Royal Dick School of Veterinary Studies, University of Edinburgh, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1003453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3636142PMC
April 2013

Differentiated melanocyte cell division occurs in vivo and is promoted by mutations in Mitf.

Development 2011 Aug 19;138(16):3579-89. Epub 2011 Jul 19.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Crewe Road South, Edinburgh EH4 2XR, UK.

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http://dx.doi.org/10.1242/dev.064014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143570PMC
August 2011

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

Hum Mol Genet 2011 Jan 13;20(2):223-34. Epub 2010 Oct 13.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, UK.

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http://dx.doi.org/10.1093/hmg/ddq457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005898PMC
January 2011

Involvement of the melanocortin-1 receptor in acute pain and pain of inflammatory but not neuropathic origin.

PLoS One 2010 Sep 13;5(9):e12498. Epub 2010 Sep 13.

Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0012498PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2938350PMC
September 2010

Human beta-defensin 3 has immunosuppressive activity in vitro and in vivo.

Eur J Immunol 2010 Apr;40(4):1073-8

MRC Human Genetics Unit, Western General Hospital, Institute of Genetics and Molecular Medicine, Edinburgh, Scotland, UK.

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http://dx.doi.org/10.1002/eji.200940041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948537PMC
April 2010

GABAergic amacrine cells and visual function are reduced in PAC1 transgenic mice.

Neuropharmacology 2010 Jan 9;58(1):215-25. Epub 2009 Jul 9.

School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, UK.

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http://dx.doi.org/10.1016/j.neuropharm.2009.07.003DOI Listing
January 2010

Genetic determinants of hair and eye colours in the Scottish and Danish populations.

BMC Genet 2009 Dec 30;10:88. Epub 2009 Dec 30.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1186/1471-2156-10-88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810292PMC
December 2009

mc1r Pathway regulation of zebrafish melanosome dispersion.

Zebrafish 2008 Dec;5(4):289-95

Institute for Genetics & Molecular Medicine , MRC Human Genetics Unit and The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1089/zeb.2008.0541DOI Listing
December 2008

Expression of the fras1/frem gene family during zebrafish development and fin morphogenesis.

Dev Dyn 2008 Nov;237(11):3295-304

Comparative and Developmental Genetics Section, MRC Human Genetics Unit, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1002/dvdy.21729DOI Listing
November 2008

Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development.

J Cell Sci 2008 Oct 2;121(Pt 19):3140-5. Epub 2008 Sep 2.

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, UK.

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http://dx.doi.org/10.1242/jcs.035550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2592597PMC
October 2008

Genetics. Beta-defensin repertoire expands.

Science 2007 Nov;318(5855):1395

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.

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http://www.sciencemag.org/cgi/doi/10.1126/science.1151370
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http://dx.doi.org/10.1126/science.1151370DOI Listing
November 2007

Humanized MC1R transgenic mice reveal human specific receptor function.

Hum Mol Genet 2007 Oct 25;16(19):2341-8. Epub 2007 Jul 25.

MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

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http://dx.doi.org/10.1093/hmg/ddm191DOI Listing
October 2007

Identifying the genes causing human diversity.

Authors:
Ian J Jackson

Eur J Hum Genet 2006 Sep 24;14(9):979-80. Epub 2006 May 24.

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201659DOI Listing
September 2006

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

Hum Mol Genet 2006 Aug 6;15(16):2457-67. Epub 2006 Jul 6.

Comparative and Developmental Genetics Section, MRC Human Genetics Unit, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1093/hmg/ddl168DOI Listing
August 2006

Regulation of pigmentation in zebrafish melanophores.

Pigment Cell Res 2006 Jun;19(3):206-13

MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

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http://dx.doi.org/10.1111/j.1600-0749.2006.00307.xDOI Listing
June 2006

Genotype-phenotype correlation of mouse pde6b mutations.

Invest Ophthalmol Vis Sci 2005 Sep;46(9):3443-50

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, UK.

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http://dx.doi.org/10.1167/iovs.05-0254DOI Listing
September 2005

The G-netics of dark skin.

Authors:
Ian J Jackson

Nat Genet 2004 Sep;36(9):935-6

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http://www.nature.com/articles/ng0904-935
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http://dx.doi.org/10.1038/ng0904-935DOI Listing
September 2004

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.

Proc Natl Acad Sci U S A 2004 Sep 2;101(37):13560-5. Epub 2004 Sep 2.

Medical Research Council Human Genetics Unit, Crewe Road, Edinburgh EH4 2XU, Scotland, United Kingdom.

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http://dx.doi.org/10.1073/pnas.0402760101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC518794PMC
September 2004

Large-scale analysis of gene structure in rhodopsin-like GPCRs: evidence for widespread loss of an ancient intron.

Gene 2004 Aug;338(1):15-23

MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1016/j.gene.2004.05.001DOI Listing
August 2004

17th International Mouse Genome Conference.

Mamm Genome 2004 Jul;15(7):509-14

MRC Human Genetics Unit, Western General Hospital, Crewe Rd., Edinburgh, EH4 2XU United Kingdom.

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http://dx.doi.org/10.1007/s00335-004-4001-9DOI Listing
July 2004

Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor.

Mamm Genome 2004 Jul;15(7):525-36

Department of Genetics, University of North Carolina School of Medicine, CB#7264, Chapel Hill, North Carolina, 27599, USA.

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http://dx.doi.org/10.1007/s00335-004-2384-2DOI Listing
July 2004

Widespread tangential dispersion and extensive cell death during early neurogenesis in the mouse neocortex.

Dev Biol 2004 Mar;267(1):109-18

MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1016/j.ydbio.2003.11.006DOI Listing
March 2004

Sequence characterization of teleost fish melanocortin receptors.

Ann N Y Acad Sci 2003 Jun;994:319-30

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, United Kingdom.

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http://dx.doi.org/10.1111/j.1749-6632.2003.tb03196.xDOI Listing
June 2003

The structure and evolution of the melanocortin and MCH receptors in fish and mammals.

Genomics 2003 Feb;81(2):184-91

MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1016/s0888-7543(02)00037-xDOI Listing
February 2003

The promises and problems of linkage analysis by using the current canine genome map.

Mamm Genome 2002 Nov;13(11):667-72

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, UK.

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http://dx.doi.org/10.1007/s00335-002-4004-3DOI Listing
November 2002

Neural crest progenitors of the melanocyte lineage: coat colour patterns revisited.

Development 2002 Jul;129(14):3349-57

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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July 2002

Presence of visual head tracking differentiates normal sighted from retinal degenerate mice.

Neurosci Lett 2002 May;325(1):21-4

MRC Mammalian Genetics Unit, Harwell OX11 0RD, UK.

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http://dx.doi.org/10.1016/s0304-3940(02)00223-9DOI Listing
May 2002

Novel ENU-induced eye mutations in the mouse: models for human eye disease.

Hum Mol Genet 2002 Apr;11(7):755-67

Comparative and Developmental Genetics Section, MRC Human Genetics Unit, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1093/hmg/11.7.755DOI Listing
April 2002

Dominant role of the niche in melanocyte stem-cell fate determination.

Nature 2002 Apr;416(6883):854-60

Department of Molecular Genetics and Department of Dermatology, Graduate School of Medicine, Kyoto University, Shogoin Kawaharacho 53, Sakyo-ku, Kyoto 606-8507, Japan.

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http://www.nature.com/articles/416854a
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http://dx.doi.org/10.1038/416854aDOI Listing
April 2002