SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Jung-Hyun Kim, Eun Young Park, David Chitayat, David L. Stachura, Jorg Schaper, Kristin Lindstrom, Tamison Jewett, Dagmar Wieczorek, Jos M. Draaisma, Margje Sinnema, Christianne Hoeberigs, Maja Hempel, Kristine K. Bachman, Andrea H. Seeley, Joshua K. Stone, Hyun Kyung Kong, Lana Vukadin, Alexander Richard, Deepali N. Shinde, Kirsty McWalterYue Cindy Si, Ganka Douglas, Ssang-Taek Lim, Lisenka E. L. M. Vissers, Mathieu Lemaire, Eun-Young Erin Ahn

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1494-1504
Number of pages11
JournalKidney International
Volume95
Issue number6
DOIs
Publication statusPublished - Jun 2019

Keywords

  • gene expression
  • genetic mutations
  • pediatric nephrology
  • pre-mRNA splicing
  • SON haploinsufficiency
  • INTELLECTUAL-DISABILITY
  • BRANCHING MORPHOGENESIS
  • KIDNEY
  • MUTATIONS
  • PKD1
  • IDENTIFICATION
  • CHILDREN
  • PROTEIN

Cite this

Kim, J-H., Park, E. Y., Chitayat, D., Stachura, D. L., Schaper, J., Lindstrom, K., Jewett, T., Wieczorek, D., Draaisma, J. M., Sinnema, M., Hoeberigs, C., Hempel, M., Bachman, K. K., Seeley, A. H., Stone, J. K., Kong, H. K., Vukadin, L., Richard, A., Shinde, D. N., ... Ahn, E-Y. E. (2019). SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kidney International, 95(6), 1494-1504. https://doi.org/10.1016/j.kint.2019.01.025