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Val C Sheffield

Showing results (131-140 of 193) with videos related to

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American Journal of Human Genetics|December 29, 2005
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneDarryl Y Nishimura, Ruth E Swiderski, Charles C Searby, et al.
The Journal of Clinical Investigation|August 4, 2015
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucomaGulab S Zode, Markus H Kuehn, Darryl Y Nishimura, et al.
Genes & Development|November 17, 2011
An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary ciliumKevin J Wright, Lisa M Baye, Anique Olivier-Mason, et al.
Human Molecular Genetics|July 2, 2004
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degenerationSamuel G Jacobson, Alexander Sumaroka, Tomas S Aleman, et al.
Human Molecular Genetics|April 24, 2025
Defective IFT57 underlies a novel cause of Bardet-Biedl syndromeAlexandra Nitoiu, Qihong Zhang, Erika Tavares, et al.
Investigative Ophthalmology & Visual Science|May 30, 2015
Rat, mouse, and primate models of chronic glaucoma show sustained elevation of extracellular ATP and altered purinergic signaling in the posterior eyeWennan Lu, HuiLing Hu, Jean Sévigny, et al.
Molecular Therapy. Nucleic Acids|January 26, 2023
Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse modelYing Hsu, Sajag Bhattarai, Jacob M Thompson, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 13, 2004
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsinDarryl Y Nishimura, Melissa Fath, Robert F Mullins, et al.
Ophthalmology|June 1, 2017
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal DiseaseEdwin M Stone, Jeaneen L Andorf, S Scott Whitmore, et al.
Disease Models & Mechanisms|September 20, 2022
Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse modelSara K Mayer, Jacintha Thomas, Megan Helms, et al.
Pageof 20

Showing results (131-140 of 193) with videos related to

Sort By:
Pageof 20
American Journal of Human Genetics|December 29, 2005
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneDarryl Y Nishimura, Ruth E Swiderski, Charles C Searby, et al.
The Journal of Clinical Investigation|August 4, 2015
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucomaGulab S Zode, Markus H Kuehn, Darryl Y Nishimura, et al.
Genes & Development|November 17, 2011
An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary ciliumKevin J Wright, Lisa M Baye, Anique Olivier-Mason, et al.
Human Molecular Genetics|July 2, 2004
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degenerationSamuel G Jacobson, Alexander Sumaroka, Tomas S Aleman, et al.
Human Molecular Genetics|April 24, 2025
Defective IFT57 underlies a novel cause of Bardet-Biedl syndromeAlexandra Nitoiu, Qihong Zhang, Erika Tavares, et al.
Investigative Ophthalmology & Visual Science|May 30, 2015
Rat, mouse, and primate models of chronic glaucoma show sustained elevation of extracellular ATP and altered purinergic signaling in the posterior eyeWennan Lu, HuiLing Hu, Jean Sévigny, et al.
Molecular Therapy. Nucleic Acids|January 26, 2023
Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse modelYing Hsu, Sajag Bhattarai, Jacob M Thompson, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 13, 2004
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsinDarryl Y Nishimura, Melissa Fath, Robert F Mullins, et al.
Ophthalmology|June 1, 2017
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal DiseaseEdwin M Stone, Jeaneen L Andorf, S Scott Whitmore, et al.
Disease Models & Mechanisms|September 20, 2022
Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse modelSara K Mayer, Jacintha Thomas, Megan Helms, et al.
Pageof 20