Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure
Our study validates the pathogenic role of the <i>WDR19</i> hypomorphic variant in adult-onset renal failure and highlights how hypomorphic pathogenic variants disrupt kidney development. These findings underscore the critical role of cilia in renal development, offering insight into the mechanisms of ciliopathies.
Authors
- Leah Armon (ORCID: https://orcid.org/0009-0001-6858-5338)
- Danit Atias-Varon
- Omer Shlomovitz (ORCID: https://orcid.org/0000-0003-0757-3824)
- Yam Ben-Haim
- Asaf Vivante
- Achia Urbach (ORCID: https://orcid.org/0000-0001-9393-4504)
- Guy Chowers
- Dror Ben-Ruby
- Inessa Grinberg
- Sylvie Polak‐Charcon
- Netanel Eisenstein
Institutions
- Bar-Ilan University (IL)
- Tel Aviv University (IL)
- Sheba Medical Center (IL)
- Edmond and Lily Safra Children's Hospital (IL)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2025-07-24
- DOI
- https://doi.org/10.1016/j.ekir.2025.07.019
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.00