Screening for Mutations in BMP4 and FOXC1 Genes in Congenital Anomalies of the Kidney and Urinary Tract in Humans

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概要

• 論文の詳細を見る

• 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.

• 東海大学の論文

著者

• Ichikawa Iekuni

  Department Of Bioethics Tokai University School Of Medicine

• Niimura Fumio

  Department Of Pediatrics School Of Medicine Tokyo Medical And Dental University

• Nakano Takako

  Department Of Pediatrics Tokai University School Of Medicine

• Nakano Takako

  Department Of Medicine And Clinical Science Gunma University Graduate School Of Medicine

• Hohenfellner Katharina

  Department Of Pediatrics Johannes Gutenberg University

• MIYAKITA Eiji

  Department of Urology, Tokai University School of Medicine

• Miyakita Eiji

  Department Of Urology Tokai University School Of Medicine

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• Preface

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