Article
Dosage-dependent rescue of definitive nephrogenesis by a distant Gata3 enhancer.
Developmental biology - 15 Jan 2007
Hasegawa Susan L, Moriguchi Takashi, Rao Arvind, Kuroha Takashi, Engel James Douglas, Lim Kim-Chew
Abstract excerpt
Human GATA3 haploinsufficiency leads to HDR (hypoparathyroidism, deafness and renal dysplasia) syndrome, demonstrating that the development of a specific subset of organs in which this transcription factor is expressed is exquisitely sensitive to gene dosage. We previously showed that murine GATA-3 is essential for definitive kidney development, and that a large YAC transgene faithfully recapitulated GATA-3...
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