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- W3128897013 endingPage "1073" @default.
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- W3128897013 abstract "Abstract Background The male‐abnormal 21 like ( MAB21L ) genes are important in human ocular development. Homozygous loss of MAB21L1 leads to corneal dystrophy in all affected individuals along with cataracts and buphthalmos in some. The molecular function and downstream pathways of MAB21L factors are largely undefined. Results We generated the first mab21l1 zebrafish mutant carrying a putative loss‐of‐function allele, c.107delA p.(Lys36Argfs*7). At the final stages of embryonic development, homozygous mab21l1 c.107delA fish displayed enlarged anterior chambers and corneal thinning which progressed with age. Additional studies revealed increased cell death in the mutant corneas, transformation of the cornea into a skin‐like epithelium, and progressive lens degeneration with development of fibrous masses in the anterior chamber. RNA‐seq of wild‐type and mutant ocular transcriptomes revealed significant changes in expression of several genes, including irf1a and b , stat1 , elf3 , krt17 , tlr9 , and loxa associated with immunity and/or corneal function. Abnormal expression of lysyl oxidases have been previously linked with corneal thinning, fibrosis, and lens defects in mammals, suggesting a role for loxa misexpression in the progressive mab21l1 c.107delA eye phenotype. Conclusions Zebrafish mab21l1 is essential for normal corneal development, similar to human MAB21L1 . The identified molecular changes in mab21l1 c.107delA mutants provide the first clues about possible affected pathways." @default.
- W3128897013 created "2021-02-15" @default.
- W3128897013 creator A5008177897 @default.
- W3128897013 creator A5014384645 @default.
- W3128897013 creator A5026467748 @default.
- W3128897013 creator A5028783251 @default.
- W3128897013 creator A5043184353 @default.
- W3128897013 date "2021-03-12" @default.
- W3128897013 modified "2023-10-18" @default.
- W3128897013 title "Genetic disruption of zebrafish <i>mab21l1</i> reveals a conserved role in eye development and affected pathways" @default.
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