Screening for mutations in BMP4 and FOXC1 genes in congenital anomalies of the kidney and urinary tract in humans
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- NAKANO T
- Department of Pediatrics, Tokai University School of Medicine
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- NIIMURA Fumio
- Department of Pediatrics, Tokai University School of Medicine
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- HOHENFELLNER Katharina
- Department of Pediatrics, Johannes Gutenberg University
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- MIYAKITA Eiji
- Department of Urology, Tokai University School of Medicine
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- ICHIKAWA Iekuni
- Department of Pediatrics, Tokai University School of Medicine
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Recent studies have demonstrated in mice that bone morphogenetic protein 4 (BMP4) and forkhead transcription factor 1 (FOXC1) are involved in the organogenesis of the kidney and urinary tract and that derangement of either gene, BMP4 or FOXC1, leads to development of congenital anomalies of the kidney and urinary tract (CAKUT). In order to determine whether human CAKUT is associated with abnormalities hi BMP4 or FOXC1, we established a PCR-based methodology for the DNA sequence analysis of BMP4 and FOXC1 in humans. Our initial screening identified an insertion mutation hi FOXC1 with a triplet GGC in three of the seven patients with CAKUT. In the present study, no mutation was detected in the coding sequence of BMP4.
収録刊行物
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- Exp Clin Med
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Exp Clin Med 28 121-126, 2003
東海大学
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詳細情報 詳細情報について
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- CRID
- 1570291227036705792
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- NII論文ID
- 110004700360
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- NII書誌ID
- AA00863975
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- ISSN
- 03850005
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- 本文言語コード
- en
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- データソース種別
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- CiNii Articles
- Crossref