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Irene A Aligianis

Showing results (1-10 of 14) with videos related to

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Biochemical Society Transactions|November 27, 2012
RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromesMark T Handley, Irene A Aligianis
Investigative Ophthalmology & Visual Science|May 27, 2004
Progressive cone dystrophy associated with mutation in CNGB3Michel Michaelides, Irene A Aligianis, John R Ainsworth, et al.
Open Biology|June 12, 2015
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulationMark T Handley, Sarah M Carpanini, Girish R Mali, et al.
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.
American Journal of Human Genetics|March 15, 2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndromeIrene A Aligianis, Neil V Morgan, Marina Mione, et al.
Disease Models & Mechanisms|April 26, 2014
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeletonSarah M Carpanini, Lisa McKie, Derek Thomson, et al.
American Journal of Human Genetics|July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeNeil V Morgan, Louise A Brueton, Phillip Cox, et al.
American Journal of Human Genetics|November 19, 2013
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humansRyan P Liegel, Mark T Handley, Adam Ronchetti, et al.
The Journal of Biological Chemistry|September 29, 2023
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesisRobert S Kiss, Jarred Chicoine, Youssef Khalil, et al.
American Journal of Human Genetics|April 9, 2011
Loss-of-function mutations in RAB18 cause Warburg micro syndromeDanai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Biochemical Society Transactions|November 27, 2012
RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromesMark T Handley, Irene A Aligianis
Investigative Ophthalmology & Visual Science|May 27, 2004
Progressive cone dystrophy associated with mutation in CNGB3Michel Michaelides, Irene A Aligianis, John R Ainsworth, et al.
Open Biology|June 12, 2015
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulationMark T Handley, Sarah M Carpanini, Girish R Mali, et al.
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.
American Journal of Human Genetics|March 15, 2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndromeIrene A Aligianis, Neil V Morgan, Marina Mione, et al.
Disease Models & Mechanisms|April 26, 2014
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeletonSarah M Carpanini, Lisa McKie, Derek Thomson, et al.
American Journal of Human Genetics|July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeNeil V Morgan, Louise A Brueton, Phillip Cox, et al.
American Journal of Human Genetics|November 19, 2013
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humansRyan P Liegel, Mark T Handley, Adam Ronchetti, et al.
The Journal of Biological Chemistry|September 29, 2023
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesisRobert S Kiss, Jarred Chicoine, Youssef Khalil, et al.
American Journal of Human Genetics|April 9, 2011
Loss-of-function mutations in RAB18 cause Warburg micro syndromeDanai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, et al.
Pageof 2