A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye

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• 作者：Xia Wang ; Xianghong Shan ; Cheryl Y. Gregory-Evans ; ^{cge30@mail.ubc.ca}
• 关键词：CNS ; central nervous system ; E14.5 ; embryonic day 14.5 ; PCR ; polymerase chain reaction ; TBE ; Tris-boric acid-EDTA ; OCT ; optical cutting temperature ; PBS ; phosphate buffered saline ; ORF ; open reading frame ; DMEM ; Dulbecco's modified eagle's medium ; BSA ; bovine serum albumin ; DAPI ; 4&prime ; 6-diamidino-2-phenylindole
• 刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：1863
• 期：1
• 页码：60-67
• 全文大小：1206 K
• 卷排序：1863

文摘

Tgfβ2, Bmp4 and Foxc1 are direct downstream targets of Pax6 in the developing iris. Pax6 +/− mice exhibit reduced Tgfβ2, Bmp4 and Foxc1 protein in the optic cup margin. Mutations in Foxc1, Bmp4 and Tgfβ2 cause similar phenotype to Pax6 mutations. Downstream targets of Pax6 are potential therapeutic targets for aniridia.