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Page 1
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Among authors: outeda p. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
A novel ARPKD mouse model with near-complete deletion of the Polycystic Kidney and Hepatic Disease 1 (Pkhd1) genomic locus presents with multiple phenotypes but not renal cysts.
Ishimoto Y, Menezes LF, Zhou F, Yoshida T, Komori T, Qiu J, Young MF, Lu H, Potapova S, Outeda P, Watnick T, Germino GG. Ishimoto Y, et al. Among authors: outeda p. Kidney Int. 2023 Sep;104(3):611-616. doi: 10.1016/j.kint.2023.05.027. Epub 2023 Jul 5. Kidney Int. 2023. PMID: 37419448 No abstract available.
The polycystin complex mediates Wnt/Ca(2+) signalling.
Kim S, Nie H, Nesin V, Tran U, Outeda P, Bai CX, Keeling J, Maskey D, Watnick T, Wessely O, Tsiokas L. Kim S, et al. Among authors: outeda p. Nat Cell Biol. 2016 Jul;18(7):752-764. doi: 10.1038/ncb3363. Epub 2016 May 23. Nat Cell Biol. 2016. PMID: 27214281 Free PMC article.
TWEAK Signaling Pathway Blockade Slows Cyst Growth and Disease Progression in Autosomal Dominant Polycystic Kidney Disease.
Cordido A, Nuñez-Gonzalez L, Martinez-Moreno JM, Lamas-Gonzalez O, Rodriguez-Osorio L, Perez-Gomez MV, Martin-Sanchez D, Outeda P, Chiaravalli M, Watnick T, Boletta A, Diaz C, Carracedo A, Sanz AB, Ortiz A, Garcia-Gonzalez MA. Cordido A, et al. Among authors: outeda p. J Am Soc Nephrol. 2021 Aug;32(8):1913-1932. doi: 10.1681/ASN.2020071094. Epub 2021 Jun 21. J Am Soc Nephrol. 2021. PMID: 34155062 Free PMC article.
NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.
Kaimori JY, Lin CC, Outeda P, Garcia-Gonzalez MA, Menezes LF, Hartung EA, Li A, Wu G, Fujita H, Sato Y, Nakanuma Y, Yamamoto S, Ichimaru N, Takahara S, Isaka Y, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG. Kaimori JY, et al. Among authors: outeda p. Sci Rep. 2017 Aug 10;7(1):7733. doi: 10.1038/s41598-017-08284-4. Sci Rep. 2017. PMID: 28798345 Free PMC article.
18 results