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Page 1
Genes and molecular pathways underpinning ciliopathies.
Reiter JF, Leroux MR. Reiter JF, et al. Nat Rev Mol Cell Biol. 2017 Sep;18(9):533-547. doi: 10.1038/nrm.2017.60. Epub 2017 Jul 12. Nat Rev Mol Cell Biol. 2017. PMID: 28698599 Free PMC article. Review.
GPR161 structure uncovers the redundant role of sterol-regulated ciliary cAMP signaling in the Hedgehog pathway.
Hoppe N, Harrison S, Hwang SH, Chen Z, Karelina M, Deshpande I, Suomivuori CM, Palicharla VR, Berry SP, Tschaikner P, Regele D, Covey DF, Stefan E, Marks DS, Reiter JF, Dror RO, Evers AS, Mukhopadhyay S, Manglik A. Hoppe N, et al. Nat Struct Mol Biol. 2024 Apr;31(4):667-677. doi: 10.1038/s41594-024-01223-8. Epub 2024 Feb 7. Nat Struct Mol Biol. 2024. PMID: 38326651 Free PMC article.
Rab35 is required for embryonic development and kidney and ureter homeostasis through regulation of epithelial cell junctions.
Clearman KR, Timpratoom N, Patel D, Rains AB, Haycraft CJ, Croyle MJ, Reiter JF, Yoder BK. Clearman KR, et al. bioRxiv [Preprint]. 2023 Sep 12:2023.09.11.556924. doi: 10.1101/2023.09.11.556924. bioRxiv. 2023. Update in: J Am Soc Nephrol. 2024 Jun 1;35(6):719-732. doi: 10.1681/ASN.0000000000000335 PMID: 37745459 Free PMC article. Updated. Preprint.
A ciliopathy complex builds distal appendages to initiate ciliogenesis.
Kumar D, Rains A, Herranz-Pérez V, Lu Q, Shi X, Swaney DL, Stevenson E, Krogan NJ, Huang B, Westlake C, Garcia-Verdugo JM, Yoder BK, Reiter JF. Kumar D, et al. J Cell Biol. 2021 Sep 6;220(9):e202011133. doi: 10.1083/jcb.202011133. Epub 2021 Jul 9. J Cell Biol. 2021. PMID: 34241634 Free PMC article.
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.
Loeb GB, Kathail P, Shuai R, Chung R, Grona RJ, Peddada S, Sevim V, Federman S, Mader K, Chu A, Davitte J, Du J, Gupta AR, Ye CJ, Shafer S, Przybyla L, Rapiteanu R, Ioannidis N, Reiter JF. Loeb GB, et al. bioRxiv [Preprint]. 2024 Jun 22:2024.06.18.599625. doi: 10.1101/2024.06.18.599625. bioRxiv. 2024. Update in: Nat Genet. 2024 Oct;56(10):2078-2092. doi: 10.1038/s41588-024-01904-6 PMID: 38948875 Free PMC article. Updated. Preprint.
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.
Lewis WR, Bales KL, Revell DZ, Croyle MJ, Engle SE, Song CJ, Malarkey EB, Uytingco CR, Shan D, Antonellis PJ, Nagy TR, Kesterson RA, Mrug MM, Martens JR, Berbari NF, Gross AK, Yoder BK. Lewis WR, et al. FASEB J. 2019 Jan;33(1):1440-1455. doi: 10.1096/fj.201801149R. Epub 2018 Aug 22. FASEB J. 2019. PMID: 30133325 Free PMC article.
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