Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome

@article{Udagawa2016AlteredEO,
  title={Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome},
  author={Tomohiro Udagawa and Tohaku Jo and Takeshi Yanagihara and Akira Shimizu and Jun Mitsui and Shoji Tsuji and Shinichi Morishita and Reiko Onai and Kenichiro Miura and Shoichiro Kanda and Yuko Kajiho and Haruko Tsurumi and A. A. Kompiang Oka and Motoshi Hattori and Yutaka Harita},
  journal={Pediatric Nephrology},
  year={2016},
  volume={32},
  pages={801-809}
}
Steroid-resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disorder for which more than 25 single-gene hereditary causes have been identified. Whole exome sequencing was performed in a 3-year-old girl with SRNS. We analyzed the expression of Crb2 and slit diaphragm molecules in the patient’s glomeruli, and compared it with that of controls or other nephrotic patients. Whole-exome analysis identified novel compound heterozygous mutations in exons 10 and 12 of CRB2 (p… CONTINUE READING
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