| Transcription factor GATA3 and the human HDR syndrome. | |
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MedLine Citation:
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PMID: 11577985 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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H Van Esch; K Devriendt |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Cellular and molecular life sciences : CMLS Volume: 58 ISSN: 1420-682X ISO Abbreviation: Cell. Mol. Life Sci. Publication Date: 2001 Aug |
Date Detail:
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Created Date: 2001-10-01 Completed Date: 2001-10-18 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9705402 Medline TA: Cell Mol Life Sci Country: Switzerland |
Other Details:
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Languages: eng Pagination: 1296-300 Citation Subset: IM |
Affiliation:
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Centre for Human Genetics, University of Leuven, Belgium. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Chromosome Mapping Chromosomes, Human, Pair 10* DNA-Binding Proteins / genetics* Deafness / genetics Female GATA3 Transcription Factor Hearing Loss, Sensorineural / genetics* Humans Hypoparathyroidism / genetics* Kidney / abnormalities* Male Mice Pedigree Syndrome Trans-Activators / genetics* Transcription Factors / genetics* Zinc Fingers |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 0/GATA3 Transcription Factor; 0/GATA3 protein, human; 0/Gata3 protein, mouse; 0/Trans-Activators; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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