MRC Human Genetics Unit,
MRC IGMM,
Western General Hospital,
MRC Human Genetics Unit, MRC IGMM, Western General Hospital
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Novel ENU-induced eye mutations in the mouse: models for human eye disease.
Human molecular genetics Apr, 2002 | Pubmed ID: 11929848
Dominant role of the niche in melanocyte stem-cell fate determination.
Nature Apr, 2002 | Pubmed ID: 11976685
Presence of visual head tracking differentiates normal sighted from retinal degenerate mice.
Neuroscience letters May, 2002 | Pubmed ID: 12023058
Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability.
Cell Jun, 2002 | Pubmed ID: 12086670
Neural crest progenitors of the melanocyte lineage: coat colour patterns revisited.
Development (Cambridge, England) Jul, 2002 | Pubmed ID: 12091305
The promises and problems of linkage analysis by using the current canine genome map.
Mammalian genome : official journal of the International Mammalian Genome Society Nov, 2002 | Pubmed ID: 12461654
The structure and evolution of the melanocortin and MCH receptors in fish and mammals.
Genomics Feb, 2003 | Pubmed ID: 12620396
Sequence characterization of teleost fish melanocortin receptors.
Annals of the New York Academy of Sciences Jun, 2003 | Pubmed ID: 12851332
Widespread tangential dispersion and extensive cell death during early neurogenesis in the mouse neocortex.
Developmental biology Mar, 2004 | Pubmed ID: 14975720
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.
Human molecular genetics Jul, 2004 | Pubmed ID: 15150159
Large-scale analysis of gene structure in rhodopsin-like GPCRs: evidence for widespread loss of an ancient intron.
Gene Aug, 2004 | Pubmed ID: 15302402
The G-netics of dark skin.
Nature genetics Sep, 2004 | Pubmed ID: 15340429
The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.
Proceedings of the National Academy of Sciences of the United States of America Sep, 2004 | Pubmed ID: 15345741
17th International Mouse Genome Conference.
Mammalian genome : official journal of the International Mammalian Genome Society Jul, 2004 | Pubmed ID: 15366370
Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor.
Mammalian genome : official journal of the International Mammalian Genome Society Jul, 2004 | Pubmed ID: 15366372
Genotype-phenotype correlation of mouse pde6b mutations.
Investigative ophthalmology & visual science Sep, 2005 | Pubmed ID: 16123450
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.
Human molecular genetics Nov, 2005 | Pubmed ID: 16159887
Genomic anatomy of the Tyrp1 (brown) deletion complex.
Proceedings of the National Academy of Sciences of the United States of America Mar, 2006 | Pubmed ID: 16505357
Regulation of pigmentation in zebrafish melanophores.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society Jun, 2006 | Pubmed ID: 16704454
Identifying the genes causing human diversity.
European journal of human genetics : EJHG Sep, 2006 | Pubmed ID: 16723996
Cardiac malformations and midline skeletal defects in mice lacking filamin A.
Human molecular genetics Aug, 2006 | Pubmed ID: 16825286
Genomic localization of a Dct-LacZ transgene locus: a simple assay for transgene status.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society Dec, 2006 | Pubmed ID: 17083491
Humanized MC1R transgenic mice reveal human specific receptor function.
Human molecular genetics Oct, 2007 | Pubmed ID: 17652101
Genetics. Beta-defensin repertoire expands.
Science (New York, N.Y.) Nov, 2007 | Pubmed ID: 18048676
Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development.
Journal of cell science Oct, 2008 | Pubmed ID: 18765564
Expression of the fras1/frem gene family during zebrafish development and fin morphogenesis.
Developmental dynamics : an official publication of the American Association of Anatomists Nov, 2008 | Pubmed ID: 18816440
mc1r Pathway regulation of zebrafish melanosome dispersion.
Zebrafish Dec, 2008 | Pubmed ID: 19133827
GABAergic amacrine cells and visual function are reduced in PAC1 transgenic mice.
Neuropharmacology Jan, 2010 | Pubmed ID: 19596361
Palmitoylation regulates epidermal homeostasis and hair follicle differentiation.
PLoS genetics Nov, 2009 | Pubmed ID: 19956733
Genetic determinants of hair and eye colours in the Scottish and Danish populations.
BMC genetics , 2009 | Pubmed ID: 20042077
Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.
Human molecular genetics Mar, 2010 | Pubmed ID: 20056676
Ex vivo live imaging of melanoblast migration in embryonic mouse skin.
Pigment cell & melanoma research Apr, 2010 | Pubmed ID: 20067551
Human beta-defensin 3 has immunosuppressive activity in vitro and in vivo.
European journal of immunology Apr, 2010 | Pubmed ID: 20104491
The physiological and phenotypic determinants of human tanning measured as change in skin colour following a single dose of ultraviolet B radiation.
Experimental dermatology Jul, 2010 | Pubmed ID: 20648713
Involvement of the melanocortin-1 receptor in acute pain and pain of inflammatory but not neuropathic origin.
PloS one , 2010 | Pubmed ID: 20856883
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
Human molecular genetics Jan, 2011 | Pubmed ID: 20943750
In praise of books.
Pigment cell & melanoma research Nov, 2010 | Pubmed ID: 21129162
A zebrafish model for nevus regeneration.
Pigment cell & melanoma research Apr, 2011 | Pubmed ID: 21324102
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
American journal of human genetics Apr, 2011 | Pubmed ID: 21473986
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
PLoS genetics Jul, 2011 | Pubmed ID: 21750680
Differentiated melanocyte cell division occurs in vivo and is promoted by mutations in Mitf.
Development (Cambridge, England) Aug, 2011 | Pubmed ID: 21771814
Mouse genomic variation and its effect on phenotypes and gene regulation.
Nature Sep, 2011 | Pubmed ID: 21921910
Rac1 drives melanoblast organization during mouse development by orchestrating pseudopod- driven motility and cell-cycle progression.
Developmental cell Oct, 2011 | Pubmed ID: 21924960
P-Rex1 is required for efficient melanoblast migration and melanoma metastasis.
Nature communications , 2011 | Pubmed ID: 22109529
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.
The Journal of investigative dermatology Aug, 2012 | Pubmed ID: 22572819
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Human mutation May, 2013 | Pubmed ID: 23420520
A CNS-specific hypomorphic Pdgfr-beta mutant model of diabetic retinopathy.
Investigative ophthalmology & visual science May, 2013 | Pubmed ID: 23633653
Signatures of diversifying selection in European pig breeds.
PLoS genetics Apr, 2013 | Pubmed ID: 23637623
A conditional zebrafish MITF mutation reveals MITF levels are critical for melanoma promotion vs. regression in vivo.
The Journal of investigative dermatology Jan, 2014 | Pubmed ID: 23831555
A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.
Genome biology Jul, 2013 | Pubmed ID: 23902802
How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns.
Pigment cell & melanoma research Jul, 2013 | Pubmed ID: 23923821
A trans-acting protein effect causes severe eye malformation in the Mp mouse.
PLoS genetics Dec, 2013 | Pubmed ID: 24348270
Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes.
PLoS genetics Dec, 2013 | Pubmed ID: 24415959
Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis.
Molecular biology of the cell Apr, 2014 | Pubmed ID: 24554764
A novel mouse model of Warburg Micro Syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton.
Disease models & mechanisms Apr, 2014 | Pubmed ID: 24764192
A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation.
PLoS genetics May, 2014 | Pubmed ID: 24809698
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