Transcription factor GATA3 and the human HDR syndrome.
Copyright policy )Transcription factor GATA3 and the human HDR syndrome.
Recently, a member of the GATA-binding family of transcription factors was shown to be involved in the human hypoparathyroidism, sensorineural deafness and renal anomalies (HDR) syndrome. Deletion-mapping studies and subsequent mutation analysis revealed that haploinsufficiency for GATA3 is the underlying mechanism of the HDR syndrome. Here we discuss the clinical characteristics of the HDR syndrome and present an overview of the role of GATA3 and related GATA-binding transcription factors during vertebrate embryonic development and their involvement in human disease.
- KU Leuven Belgium
Male, Chromosomes, Human, Pair 10, Hypoparathyroidism, Hearing Loss, Sensorineural, Chromosome Mapping, Zinc Fingers, GATA3 Transcription Factor, Syndrome, Deafness, Kidney, Pedigree, DNA-Binding Proteins, Mice, Trans-Activators, Animals, Humans, Female, Transcription Factors
Male, Chromosomes, Human, Pair 10, Hypoparathyroidism, Hearing Loss, Sensorineural, Chromosome Mapping, Zinc Fingers, GATA3 Transcription Factor, Syndrome, Deafness, Kidney, Pedigree, DNA-Binding Proteins, Mice, Trans-Activators, Animals, Humans, Female, Transcription Factors
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