Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes.

Fiche publication

Date publication

janvier 2025

Journal

BMC genomics

Auteurs

Membres identifiés du Cancéropôle Est :
Dr HERAULT Yann

Tous les auteurs :
Vo P, Imai-Leonard DM, Yang B, Briere A, Shao A, Casanova MI, Adams D, Amano T, Amarie O, Berberovic Z, Bower L, Braun R, Brown S, Burrill S, Cho SY, Clementson-Mobbs S, D'Souza A, Dickinson M, Eskandarian M, Flenniken AM, Fuchs H, Gailus-Durner V, Heaney J, Hérault Y, Angelis MH, Hsu CW, Jin S, Joynson R, Kang YK, Kim H, Masuya H, Meziane H, Murray S, Nam KH, Noh H, Nutter LMJ, Palkova M, Prochazka J, Raishbrook MJ, Riet F, Ryan J, Salazar J, Seavey Z, Seavitt JR, Sedlacek R, Selloum M, Seo KY, Seong JK, Shin HS, Shiroishi T, Stewart M, Svenson K, Tamura M, Tolentino H, Udensi U, Wells S, White J, Willett A, Wotton J, Wurst W, Yoshiki A, ,Lanoue L, Lloyd KCK, Leonard BC, Roux MJ, McKerlie C, Moshiri A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/39833678

Résumé

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 understood. The purpose of this study was to analyze phenotype data from 8,707 knockout mouse lines to identify new genes associated with the development of CDs in humans.