Search Results - "Seese, Sarah E."

Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways by Seese, Sarah E., Deml, Brett, Muheisen, Sanaa, Sorokina, Elena, Semina, Elena V.

“…Background The male‐abnormal 21 like (MAB21L) genes are important in human ocular development. Homozygous loss of MAB21L1 leads to corneal dystrophy in all…”
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Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms by Reis, Linda M., Seese, Sarah E., Costakos, Deborah, Semina, Elena V.

“…Development of the anterior segment of the eye requires reciprocal sequential interactions between the arising tissues, facilitated by numerous genetic…”
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Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development by Seese, Sarah E., Muheisen, Sanaa, Gath, Natalie, Gross, Jeffrey M., Semina, Elena V.

“…Background Pathogenic variants in human MAB21L2 result in microphthalmia, anophthalmia, and coloboma. The exact molecular function of MAB21L2 is currently…”
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Identification of missense MAB21L1 variants in microphthalmia and aniridia by Seese, Sarah E., Reis, Linda M., Deml, Brett, Griffith, Christopher, Reich, Adi, Jamieson, Robyn V., Semina, Elena V.

“…Microphthalmia, coloboma, and aniridia are congenital ocular phenotypes with a strong genetic component but often unknown cause. We present a likely causative…”
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Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders by Reis, Linda M, Sorokina, Elena A, Dudakova, Lubica, Moravikova, Jana, Skalicka, Pavlina, Malinka, Frantisek, Seese, Sarah E, Thompson, Samuel, Bardakjian, Tanya, Capasso, Jenina, Allen, William, Glaser, Tom, Levin, Alex V, Schneider, Adele, Khan, Ayesha, Liskova, Petra, Semina, Elena V

“…Abstract The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the…”
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