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Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.
Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, Shneider BL, Torres VE, Wilson P, Zak C, Zhou J, Gahl WA. Gunay-Aygun M, et al. Among authors: pazour gj. J Pediatr. 2006 Aug;149(2):159-64. doi: 10.1016/j.jpeds.2006.03.014. J Pediatr. 2006. PMID: 16887426 Free PMC article.
Cilia in cystic kidney and other diseases.
Pazour GJ, Quarmby L, Smith AO, Desai PB, Schmidts M. Pazour GJ, et al. Cell Signal. 2020 May;69:109519. doi: 10.1016/j.cellsig.2019.109519. Epub 2019 Dec 24. Cell Signal. 2020. PMID: 31881326 Free PMC article. Review.
A cAMP signalosome in primary cilia drives gene expression and kidney cyst formation.
Hansen JN, Kaiser F, Leyendecker P, Stüven B, Krause JH, Derakhshandeh F, Irfan J, Sroka TJ, Preval KM, Desai PB, Kraut M, Theis H, Drews AD, De-Domenico E, Händler K, Pazour GJ, Henderson DJP, Mick DU, Wachten D. Hansen JN, et al. Among authors: pazour gj. EMBO Rep. 2022 Aug 3;23(8):e54315. doi: 10.15252/embr.202154315. Epub 2022 Jun 13. EMBO Rep. 2022. PMID: 35695071 Free PMC article.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM; Genomics England Research Consortium; Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J. Münch J, et al. Among authors: pazour gj. Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26. Kidney Int. 2022. PMID: 35227688 Free PMC article.
Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.
Cui C, Chatterjee B, Lozito TP, Zhang Z, Francis RJ, Yagi H, Swanhart LM, Sanker S, Francis D, Yu Q, San Agustin JT, Puligilla C, Chatterjee T, Tansey T, Liu X, Kelley MW, Spiliotis ET, Kwiatkowski AV, Tuan R, Pazour GJ, Hukriede NA, Lo CW. Cui C, et al. Among authors: pazour gj. PLoS Biol. 2013 Nov;11(11):e1001720. doi: 10.1371/journal.pbio.1001720. Epub 2013 Nov 26. PLoS Biol. 2013. PMID: 24302887 Free PMC article.
141 results