Article
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.
Diabetes - 1 Jan 2002
Yasuda Tetsuyuki, Kajimoto Yoshitaka, Fujitani Yoshio, Watada Hirotaka, Yamamoto Shuji, Watarai Takao, Umayahara Yutaka, Matsuhisa Munehide, Gorogawa Shin-ichi, Kuwayama Yasuaki, Tano Yasuo, Yamasaki Yoshimitsu, Hori Masatsugu
Abstract excerpt
A paired homeodomain transcription factor, PAX6, is a well-known regulator of eye development, and its heterozygous mutations in humans cause congenital eye anomalies such as aniridia. Because it was recently shown that PAX6 also plays an indispensable role in islet cell development, a PAX6 gene mutation in humans may lead to a defect of the endocrine pancreas. Whereas heterozygous mutations in islet-cell...
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