Article
Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes.
BMC genomics - 20 Jan 2025
Vo Peter, Imai-Leonard Denise M, Yang Benjamin, Briere Andrew, Shao Andy, Casanova M Isabel, Adams David, Amano Takanori, Amarie Oana, Berberovic Zorana, Bower Lynette, Braun Robert, Brown Steve, Burrill Samantha, Cho Soo Young, Clementson-Mobbs Sharon, D'Souza Abigail, Dickinson Mary, Eskandarian Mohammad, Flenniken Ann M, Fuchs Helmut, Gailus-Durner Valerie, Heaney Jason, Hérault Yann, Angelis Martin Hrabe de, Hsu Chih-Wei, Jin Shundan, Joynson Russell, Kang Yeon Kyung, Kim Haerim, Masuya Hiroshi, Meziane Hamid, Murray Steve, Nam Ki-Hoan, Noh Hyuna, Nutter Lauryl M J, Palkova Marcela, Prochazka Jan, Raishbrook Miles Joseph, Riet Fabrice, Ryan Jennifer, Salazar Jason, Seavey Zachery, Seavitt John Richard, Sedlacek Radislav, Selloum Mohammed, Seo Kyoung Yul, Seong Je Kyung, Shin Hae-Sol, Shiroishi Toshihiko, Stewart Michelle, Svenson Karen, Tamura Masaru, Tolentino Heather, Udensi Uchechukwu, Wells Sara, White Jacqueline, Willett Amelia, Wotton Janine, Wurst Wolfgang, Yoshiki Atsushi, Lanoue Louise, Lloyd K C Kent, Leonard Brian C, Roux Michel J, McKerlie Colin, Moshiri Ala
Abstract excerpt
PURPOSE: Corneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous work has elucidated many aspects of CDs, such as presenting symptoms, epidemiology, and pathophysiology, the genetic mechanisms remain incompletely...
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