A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation

Autor: Bryan R. Gorman, Michael Francis, Cari L. Nealon, Christopher W. Halladay, Nalvi Duro, Kyriacos Markianos, Giulio Genovese, Pirro G. Hysi, Hélène Choquet, Natalie A. Afshari, Yi-Ju Li, VA Million Veteran Program, J. Michael Gaziano, Adriana M. Hung, Wen-Chih Wu, Paul B. Greenberg, Saiju Pyarajan, Jonathan H. Lass, Neal S. Peachey, Sudha K. Iyengar

Publikováno v: Communications Biology, Vol 7, Iss 1, Pp 1-12 (2024)

Abstract Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation, but its molecular etiology remains poorly understood. We performed genome-wide association studies (GWAS) of FECD in the Million Veteran Program

Externí odkaz: https://doaj.org/article/0fe539b9cc3448d380d23ca144eee0cb

Genetic loss of function of Ptbp1 does not induce glia-to-neuron conversion in retina

Autor: Thanh Hoang, Dong Won Kim, Haley Appel, Nicole A. Pannullo, Patrick Leavey, Manabu Ozawa, Sika Zheng, Minzhong Yu, Neal S. Peachey, Seth Blackshaw

Publikováno v: Cell Reports, Vol 39, Iss 11, Pp 110849- (2022)

Summary: Direct reprogramming of glia into neurons is a potentially promising approach for the replacement of neurons lost to injury or neurodegenerative disorders. Knockdown of the polypyrimidine tract-binding protein Ptbp1 has been recently reporte

Externí odkaz: https://doaj.org/article/d7a39380ef884540887e51512ff4db40

An inducible Cre mouse for studying roles of the RPE in retinal physiology and disease

Autor: Elliot H. Choi, Susie Suh, David E. Einstein, Henri Leinonen, Zhiqian Dong, Sriganesh Ramachandra Rao, Steven J. Fliesler, Seth Blackshaw, Minzhong Yu, Neal S. Peachey, Krzysztof Palczewski, Philip D. Kiser

Publikováno v: JCI Insight, Vol 6, Iss 9 (2021)

The retinal pigment epithelium (RPE) provides vital metabolic support for retinal photoreceptor cells and is an important player in numerous retinal diseases. Gene manipulation in mice using the Cre-LoxP system is an invaluable tool for studying the

Externí odkaz: https://doaj.org/article/9bd5b7f2aed546ab8d29ac38a52ecb52

Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome

Autor: Steven J. Fliesler, Neal S. Peachey, Josi Herron, Kelly M. Hines, Nadav I. Weinstock, Sriganesh Ramachandra Rao, Libin Xu

Publikováno v: Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)

Abstract Smith-Lemli-Opitz Syndrome (SLOS) is a recessive human disease caused by defective cholesterol (CHOL) synthesis at the level of DHCR7 (7-dehydrocholesterol reductase), which normally catalyzes the conversion of 7-dehydrocholesterol (7DHC) to

Externí odkaz: https://doaj.org/article/0f9352eaa4c44a5492915c722acf3157

Glaucoma Genetic Risk Scores in the Million Veteran Program

Autor: Andrea R. Waksmunski, Tyler G. Kinzy, Lauren A. Cruz, Cari L. Nealon, Christopher W. Halladay, Piana Simpson, Rachael L. Canania, Scott A. Anthony, David P. Roncone, Lea Sawicki Rogers, Jenna N. Leber, Jacquelyn M. Dougherty, Paul B. Greenberg, Jack M. Sullivan, Wen-Chih Wu, Sudha K. Iyengar, Dana C. Crawford, Neal S. Peachey, Jessica N. Cooke Bailey, J. Michael Gaziano, Rachel Ramoni, Jim Breeling, Kyong-Mi Chang, Grant Huang, Sumitra Muralidhar, Christopher J. O’Donnell, Philip S. Tsao, Jennifer Moser, Stacey B. Whitbourne, Jessica V. Brewer, John Concato, Stuart Warren, Dean P. Argyres, Brady Stephens, Mary T. Brophy, Donald E. Humphries, Nhan Do, Shahpoor Shayan, Xuan-Mai T. Nguyen, Saiju Pyarajan, Kelly Cho, Elizabeth Hauser, Yan Sun, Hongyu Zhao, Peter Wilson, Rachel McArdle, Louis Dellitalia, John Harley, Jeffrey Whittle, Jean Beckham, John Wells, Salvador Gutierrez, Gretchen Gibson, Laurence Kaminsky, Gerardo Villareal, Scott Kinlay, Junzhe Xu, Mark Hamner, Kathlyn Sue Haddock, Sujata Bhushan, Pran Iruvanti, Michael Godschalk, Zuhair Ballas, Malcolm Buford, Stephen Mastorides, Jon Klein, Nora Ratcliffe, Hermes Florez, Alan Swann, Maureen Murdoch, Peruvemba Sriram, Shing Shing Yeh, Ronald Washburn, Darshana Jhala, Samuel Aguayo, David Cohen, Satish Sharma, John Callaghan, Kris Ann Oursler, Mary Whooley, Sunil Ahuja, Amparo Gutierrez, Ronald Schifman, Jennifer Greco, Michael Rauchman, Richard Servatius, Mary Oehlert, Agnes Wallbom, Ronald Fernando, Timothy Morgan, Todd Stapley, Scott Sherman, Gwenevere Anderson, Philip Tsao, Elif Sonel, Edward Boyko, Laurence Meyer, Samir Gupta, Joseph Fayad, Adriana Hung, Jack Lichy, Robin Hurley, Brooks Robey, Robert Striker

Publikováno v: Ophthalmology. 129:1263-1274

Primary open-angle glaucoma (POAG) is a degenerative eye disease for which early treatment is critical to mitigate visual impairment and irreversible blindness. POAG-associated loci individually confer incremental risk. Genetic risk score(s) (GRS) co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ced9cf58ca1a176a0e3daa01154e369
https://doi.org/10.1016/j.ophtha.2022.06.012