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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C. Lu H, et al. Among authors: little mh. Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22. Nat Genet. 2017. PMID: 28530676 Free PMC article.
Evaluation of biomarkers for in vitro prediction of drug-induced nephrotoxicity: comparison of HK-2, immortalized human proximal tubule epithelial, and primary cultures of human proximal tubular cells.
Huang JX, Kaeslin G, Ranall MV, Blaskovich MA, Becker B, Butler MS, Little MH, Lash LH, Cooper MA. Huang JX, et al. Among authors: little mh. Pharmacol Res Perspect. 2015 Jun;3(3):e00148. doi: 10.1002/prp2.148. Epub 2015 May 15. Pharmacol Res Perspect. 2015. PMID: 26171227 Free PMC article.
Evaluation of variability in human kidney organoids.
Phipson B, Er PX, Combes AN, Forbes TA, Howden SE, Zappia L, Yen HJ, Lawlor KT, Hale LJ, Sun J, Wolvetang E, Takasato M, Oshlack A, Little MH. Phipson B, et al. Among authors: little mh. Nat Methods. 2019 Jan;16(1):79-87. doi: 10.1038/s41592-018-0253-2. Epub 2018 Dec 20. Nat Methods. 2019. PMID: 30573816 Free PMC article.
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Majmundar AJ, Buerger F, Forbes TA, Klämbt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F. Majmundar AJ, et al. Among authors: little mh. Sci Adv. 2021 Jan 1;7(1):eabe1386. doi: 10.1126/sciadv.abe1386. Print 2021 Jan. Sci Adv. 2021. PMID: 33523862 Free PMC article.
226 results