Sarah E. Seese
Medical College of Wisconsin
Eye developmentCompound heterozygosityPhenotypeMutantAlleleProbandPedigree chartColobomaAniridiaBuphthalmosZebrafishCorneaMicrophthalmiaCorneal dystrophySclerocorneaLoxaCataractsGeneticsMissense mutationBiologyCell biology
Publications 3
#10Jenina E. Capasso (UR: University of Rochester)H-Index: 10
The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are unknown. We identified FOXE3 variants in individuals with congenital eye malformations and carried out in vitro functional analysis on selected alleles. Sixteen new recessive and dominant families, including six novel variants, were identified. Analysis of new an...
#1Sarah E. Seese (MCW: Medical College of Wisconsin)
#2Linda M. Reis (MCW: Medical College of Wisconsin)H-Index: 21
Last. Elena V. Semina (MCW: Medical College of Wisconsin)H-Index: 2
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Microphthalmia, coloboma, and aniridia are congenital ocular phenotypes with a strong genetic component but often unknown cause. We present a likely causative novel variant in MAB21L1, c.152G>T p.(Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance, c.184C>T p.(Arg62Cys)/c.-68T>C, and c.658G>C p.(Gly220Arg)/c.*529A>G, in two additional probands with microphthalmia, coloboma and/or cataracts. All vari...
#1Sarah E. Seese (MCW: Medical College of Wisconsin)
#2Brett Deml (MCW: Medical College of Wisconsin)H-Index: 4
Last. Elena V. SeminaH-Index: 2
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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 mab...
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