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Ian J Jackson

Showing results (41-50 of 88) with videos related to

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Molecular Genetics & Genomic Medicine|August 1, 2014
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndromeMark T Handley, André Mégarbané, Alison M Meynert, et al.
Human Molecular Genetics|October 15, 2010
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotypeSally H Cross, Lisa McKie, Katrine West, et al.
Plos Genetics|January 14, 2014
Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypesEmma A Hall, Margaret Keighren, Matthew J Ford, et al.
Scientific Reports|January 18, 2020
Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal functionAmy S Findlay, Lisa McKie, Margaret Keighren, et al.
Development (Cambridge, England)|July 21, 2011
Differentiated melanocyte cell division occurs in vivo and is promoted by mutations in MitfKerrie L Taylor, James A Lister, Zhiqiang Zeng, et al.
Human Molecular Genetics|May 20, 2004
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndromeSally H Cross, Joanne E Morgan, Alexandre Pattyn, et al.
Investigative Ophthalmology & Visual Science|July 3, 2019
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the MouseSally H Cross, Lisa Mckie, Margaret Keighren, et al.
Pigment Cell & Melanoma Research|May 13, 2025
A Dominant Mutation in G<sub>α</sub>s-Protein Increases Hair PigmentationPhilip S Goff, Peter Budd, Darren W Logan, et al.
European Journal of Immunology|January 28, 2010
Human beta-defensin 3 has immunosuppressive activity in vitro and in vivoFiona Semple, Sheila Webb, Hsin-Ni Li, et al.
Plos Genetics|April 3, 2020
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specificationSally H Cross, Lisa Mckie, Toby W Hurd, et al.
Pageof 9

Showing results (41-50 of 88) with videos related to

Sort By:
Pageof 9
Molecular Genetics & Genomic Medicine|August 1, 2014
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndromeMark T Handley, André Mégarbané, Alison M Meynert, et al.
Human Molecular Genetics|October 15, 2010
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotypeSally H Cross, Lisa McKie, Katrine West, et al.
Plos Genetics|January 14, 2014
Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypesEmma A Hall, Margaret Keighren, Matthew J Ford, et al.
Scientific Reports|January 18, 2020
Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal functionAmy S Findlay, Lisa McKie, Margaret Keighren, et al.
Development (Cambridge, England)|July 21, 2011
Differentiated melanocyte cell division occurs in vivo and is promoted by mutations in MitfKerrie L Taylor, James A Lister, Zhiqiang Zeng, et al.
Human Molecular Genetics|May 20, 2004
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndromeSally H Cross, Joanne E Morgan, Alexandre Pattyn, et al.
Investigative Ophthalmology & Visual Science|July 3, 2019
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the MouseSally H Cross, Lisa Mckie, Margaret Keighren, et al.
Pigment Cell & Melanoma Research|May 13, 2025
A Dominant Mutation in G<sub>α</sub>s-Protein Increases Hair PigmentationPhilip S Goff, Peter Budd, Darren W Logan, et al.
European Journal of Immunology|January 28, 2010
Human beta-defensin 3 has immunosuppressive activity in vitro and in vivoFiona Semple, Sheila Webb, Hsin-Ni Li, et al.
Plos Genetics|April 3, 2020
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specificationSally H Cross, Lisa Mckie, Toby W Hurd, et al.
Pageof 9