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Ronald Roepman

Showing results (21-30 of 122) with videos related to

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Journal of Cell Science|June 30, 2026
Loss of INPP5E affects photoreceptor outer segment membrane biogenesis in iPSC-derived human retinal organoidsKae R Whiting, Mariam G Aslanyan, Lynn van Summeren, et al.
Journal of Cell Science|March 10, 2026
The EH Binding protein EHBP1 operates in a ciliary functional module affected by INPP5E dysfunctionKae R Whiting, Mariam Aslanyan, Imke Peters, et al.
The Journal of Biological Chemistry|March 20, 2010
Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complexYachiyo Mitsuishi, Hiroshi Hasegawa, Akinori Matsuo, et al.
Plos One|November 14, 2013
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosisAlejandro Garanto, Sylvia E C van Beersum, Theo A Peters, et al.
American Journal of Medical Genetics. Part A|May 8, 2007
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosaEyal Banin, Liliana Mizrahi-Meissonnier, Ruhama Neis, et al.
Human Molecular Genetics|September 4, 2012
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesSilvio Alessandro Di Gioia, Stef J F Letteboer, Corinne Kostic, et al.
Nature Structural & Molecular Biology|January 24, 2025
A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growthHarriet A J Saunders, Cyntha M van den Berg, Robin A Hoogebeen, et al.
JCI Insight|April 18, 2023
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axonemeSiebren Faber, Olivier Mercey, Katrin Junger, et al.
Human Molecular Genetics|November 23, 2005
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2Jan Reiners, Erwin van Wijk, Tina Märker, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 13, 2005
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutationsRonald Roepman, Stef J F Letteboer, Heleen H Arts, et al.
Pageof 13

Showing results (21-30 of 122) with videos related to

Sort By:
Pageof 13
Journal of Cell Science|June 30, 2026
Loss of INPP5E affects photoreceptor outer segment membrane biogenesis in iPSC-derived human retinal organoidsKae R Whiting, Mariam G Aslanyan, Lynn van Summeren, et al.
Journal of Cell Science|March 10, 2026
The EH Binding protein EHBP1 operates in a ciliary functional module affected by INPP5E dysfunctionKae R Whiting, Mariam Aslanyan, Imke Peters, et al.
The Journal of Biological Chemistry|March 20, 2010
Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complexYachiyo Mitsuishi, Hiroshi Hasegawa, Akinori Matsuo, et al.
Plos One|November 14, 2013
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosisAlejandro Garanto, Sylvia E C van Beersum, Theo A Peters, et al.
American Journal of Medical Genetics. Part A|May 8, 2007
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosaEyal Banin, Liliana Mizrahi-Meissonnier, Ruhama Neis, et al.
Human Molecular Genetics|September 4, 2012
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesSilvio Alessandro Di Gioia, Stef J F Letteboer, Corinne Kostic, et al.
Nature Structural & Molecular Biology|January 24, 2025
A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growthHarriet A J Saunders, Cyntha M van den Berg, Robin A Hoogebeen, et al.
JCI Insight|April 18, 2023
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axonemeSiebren Faber, Olivier Mercey, Katrin Junger, et al.
Human Molecular Genetics|November 23, 2005
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2Jan Reiners, Erwin van Wijk, Tina Märker, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 13, 2005
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutationsRonald Roepman, Stef J F Letteboer, Heleen H Arts, et al.
Pageof 13