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Filters: Keyword is Mice  [Clear All Filters]
2017
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)., Cox, Allison J., Darbro Benjamin W., Laxer Ronald M., Velez Gabriel, Bing Xinyu, Finer Alexis L., Erives Albert, Mahajan Vinit B., Bassuk Alexander G., and Ferguson Polly J. , PLoS One, 2017, Volume 12, Issue 3, p.e0169687, (2017)
2016
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses., Schaefer, Kellie A., Toral Marcus A., Velez Gabriel, Cox Allison J., Baker Sheila A., Borcherding Nicholas C., Colgan Diana F., Bondada Vimala, Mashburn Charles B., Yu Chen-Guang, et al. , Invest Ophthalmol Vis Sci, 2016 05 01, Volume 57, Issue 6, p.2509-21, (2016)
CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa., Wu, Wen-Hsuan, Tsai Yi-Ting, Justus Sally, Lee Ting-Ting, Zhang Lijuan, Lin Chyuan-Sheng, Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H. , Mol Ther, 2016 08, Volume 24, Issue 8, p.1388-94, (2016)
Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration., Zhang, Lijuan, Du Jianhai, Justus Sally, Hsu Chun-Wei, Bonet-Ponce Luis, Wu Wen-Hsuan, Tsai Yi-Ting, Wu Wei-Pu, Jia Yading, Duong Jimmy K., et al. , J Clin Invest, 2016 Dec 01, Volume 126, Issue 12, p.4659-4673, (2016)
Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa., Zhang, Lijuan, Justus Sally, Xu Yu, Pluchenik Tamara, Hsu Chun-Wei, Yang Jin, Duong Jimmy K., Lin Chyuan-Sheng, Jia Yading, Bassuk Alexander G., et al. , Hum Mol Genet, 2016 10 01, Volume 25, Issue 19, p.4244-4255, (2016)
2014
Silencing of tuberin enhances photoreceptor survival and function in a preclinical model of retinitis pigmentosa (an american ophthalmological society thesis)., Tsang, Stephen H., Chan Lawrence, Tsai Yi-Ting, Wu Wen-Hsuan, Hsu Chun-Wei, Yang Jin, Tosi Joaquin, Wert Katherine J., Davis Richard J., and Mahajan Vinit B. , Trans Am Ophthalmol Soc, 2014 Jul, Volume 112, p.103-15, (2014)
Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss., Chen, Jing, Ingham Neil, Kelly John, Jadeja Shalini, Goulding David, Pass Johanna, Mahajan Vinit B., Tsang Stephen H., Nijnik Anastasia, Jackson Ian J., et al. , PLoS Genet, 2014 Oct, Volume 10, Issue 10, p.e1004688, (2014)
2013
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes., White, Jacqueline K., Gerdin Anna-Karin, Karp Natasha A., Ryder Ed, Buljan Marija, Bussell James N., Salisbury Jennifer, Clare Simon, Ingham Neil J., Podrini Christine, et al. , Cell, 2013 Jul 18, Volume 154, Issue 2, p.452-64, (2013)
2012
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome., McIntyre, Rebecca E., Chavali Pavithra Lakshminar, Ismail Ozama, Carragher Damian M., Sanchez-Andrade Gabriela, Forment Josep V., Fu Beiyuan, Velasco-Herrera Martin Del Castil, Edwards Andrew, van der Weyden Louise, et al. , PLoS Genet, 2012, Volume 8, Issue 11, p.e1003022, (2012)
2011
Evisceration of mouse vitreous and retina for proteomic analyses., Skeie, Jessica M., Tsang Stephen H., and Mahajan Vinit B. , Journal of visualized experiments : JoVE, 2011, Issue 50, (2011)
Mouse eye enucleation for remote high-throughput phenotyping., Mahajan, Vinit B., Skeie Jessica M., Assefnia Amir H., Mahajan Maryann, and Tsang Stephen H. , Journal of visualized experiments : JoVE, 2011, Issue 57, (2011)
Mutations in prickle orthologs cause seizures in flies, mice, and humans., Tao, Hirotaka, J Manak Robert, Sowers Levi, Mei Xue, Kiyonari Hiroshi, Abe Takaya, Dahdaleh Nader S., Yang Tian, Wu Shu, Chen Shan, et al. , American journal of human genetics, 2011 Feb 11, Volume 88, Issue 2, p.138-49, (2011)
2007
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness., Tsang, Stephen H., Woodruff Michael L., Jun Lin, Mahajan Vinit, Yamashita Clyde K., Pedersen Robert, Lin Chyuan-Sheng, Goff Stephen P., Rosenberg Thomas, Larsen Michael, et al. , Human mutation, 2007 Mar, Volume 28, Issue 3, p.243-54, (2007)