نتایج جستجو برای: peters anomaly

تعداد نتایج: 42218  

Journal: :American journal of human genetics 2003
Noriyuki Azuma Yuki Yamaguchi Hiroshi Handa Keiko Tadokoro Atsuko Asaka Eriko Kawase Masao Yamada

The PAX6 gene is involved in ocular morphogenesis and is expressed in the developing central nervous system and numerous ocular tissues during development. PAX6 mutations have been detected in various ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataracts, and foveal hypoplasia. However, it has not been identified in patients with optic-nerve malformations...

2016
Shahid Y. Khan Shivakumar Vasanth Firoz Kabir John D. Gottsch Arif O. Khan Raghothama Chaerkady Mei-Chong W. Lee Carmen C. Leitch Zhiwei Ma Julie Laux Rafael Villasmil Shaheen N. Khan Sheikh Riazuddin Javed Akram Robert N. Cole C. Conover Talbot Nader Pourmand Norann A. Zaghloul J. Fielding Hejtmancik S. Amer Riazuddin

FOXE3 is a lens-specific transcription factor that has been associated with anterior segment ocular dysgenesis. To determine the transcriptional target(s) of FOXE3 that are indispensable for the anterior segment development, we examined the transcriptome and the proteome of cells expressing truncated FOXE3 responsible for Peters anomaly identified through linkage-coupled next-generation whole-e...

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