A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression
IntroductionHeterozygous deletions predicting haploinsufficiency for the Cysteine Rich Motor Neuron 1 (CRIM1) gene have been identified in two families with macrophthalmia, colobomatous, with microcornea (MACOM), an autosomal dominant trait. Crim1 encodes a type I transmembrane protein that is expre...
Main Authors: | Tien Le, Stephanie Htun, Manoj Kumar Pandey, Yihui Sun, Albert Frank Magnusen, Ehsan Ullah, Julie Lauzon, Shannon Beres, Chung Lee, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Sergio E. Baranzini, Anne Slavotinek |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2025-03-01
|
Series: | Frontiers in Cell and Developmental Biology |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2025.1522094/full |
Similar Items
-
Case report: Ocular malformation with a ′double globe′ appearance
by: Kim Usha, et al.
Published: (2009-01-01) -
Case report: Ocular malformation with a ′double globe′ appearance
by: Usha R Kim, et al.
Published: (2009-10-01) -
A missing lens-congenital aphakia?
by: Vidharthi Diwakaran, et al.
Published: (2022-01-01) -
Persistent fetal vasculature with colobomatous cystic optic disc in a microphthalmic eye: A clinicopathological case report
by: Palak Chirania, et al.
Published: (2020-01-01) -
Unilateral acute hydrops in a child with bilateral microcornea and iridofundal coloboma
by: Rinky Agarwal, et al.
Published: (2019-01-01)