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Page 1
Loss of Anks6 leads to YAP deficiency and liver abnormalities.
Airik M, Schüler M, McCourt B, Weiss AC, Herdman N, Lüdtke TH, Widmeier E, Stolz DB, Nejak-Bowen KN, Yimlamai D, Wu YL, Kispert A, Airik R, Hildebrandt F. Airik M, et al. Hum Mol Genet. 2020 Nov 4;29(18):3064-3080. doi: 10.1093/hmg/ddaa197. Hum Mol Genet. 2020. PMID: 32886109 Free PMC article.
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.
Airik R, Slaats GG, Guo Z, Weiss AC, Khan N, Ghosh A, Hurd TW, Bekker-Jensen S, Schrøder JM, Elledge SJ, Andersen JS, Kispert A, Castelli M, Boletta A, Giles RH, Hildebrandt F. Airik R, et al. J Am Soc Nephrol. 2014 Nov;25(11):2573-83. doi: 10.1681/ASN.2013050565. Epub 2014 Apr 10. J Am Soc Nephrol. 2014. PMID: 24722439 Free PMC article.
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F. Schueler M, et al. Am J Hum Genet. 2015 Jan 8;96(1):81-92. doi: 10.1016/j.ajhg.2014.12.002. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557784 Free PMC article.
11 results