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Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules.
Woodward OM, Tukaye DN, Cui J, Greenwell P, Constantoulakis LM, Parker BS, Rao A, Köttgen M, Maloney PC, Guggino WB. Woodward OM, et al. Among authors: kottgen m. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5223-8. doi: 10.1073/pnas.1214530110. Epub 2013 Mar 14. Proc Natl Acad Sci U S A. 2013. PMID: 23493553 Free PMC article.
ABCG transporters and disease.
Woodward OM, Köttgen A, Köttgen M. Woodward OM, et al. Among authors: kottgen a, kottgen m. FEBS J. 2011 Sep;278(18):3215-25. doi: 10.1111/j.1742-4658.2011.08171.x. Epub 2011 Jun 13. FEBS J. 2011. PMID: 21554546 Free PMC article. Review.
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
Tin A, Woodward OM, Kao WH, Liu CT, Lu X, Nalls MA, Shriner D, Semmo M, Akylbekova EL, Wyatt SB, Hwang SJ, Yang Q, Zonderman AB, Adeyemo AA, Palmer C, Meng Y, Reilly M, Shlipak MG, Siscovick D, Evans MK, Rotimi CN, Flessner MF, Köttgen M, Cupples LA, Fox CS, Köttgen A; CARe and CHARGE Consortia. Tin A, et al. Among authors: kottgen a, kottgen m. Hum Mol Genet. 2011 Oct 15;20(20):4056-68. doi: 10.1093/hmg/ddr307. Epub 2011 Jul 18. Hum Mol Genet. 2011. PMID: 21768215 Free PMC article.
The TRPP subfamily and polycystin-1 proteins.
Semmo M, Köttgen M, Hofherr A. Semmo M, et al. Among authors: kottgen m. Handb Exp Pharmacol. 2014;222:675-711. doi: 10.1007/978-3-642-54215-2_27. Handb Exp Pharmacol. 2014. PMID: 24756726
Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.
Schlosser P, Li Y, Sekula P, Raffler J, Grundner-Culemann F, Pietzner M, Cheng Y, Wuttke M, Steinbrenner I, Schultheiss UT, Kotsis F, Kacprowski T, Forer L, Hausknecht B, Ekici AB, Nauck M, Völker U; GCKD Investigators; Walz G, Oefner PJ, Kronenberg F, Mohney RP, Köttgen M, Suhre K, Eckardt KU, Kastenmüller G, Köttgen A. Schlosser P, et al. Among authors: kottgen a, kottgen m. Nat Genet. 2020 Feb;52(2):167-176. doi: 10.1038/s41588-019-0567-8. Epub 2020 Jan 20. Nat Genet. 2020. PMID: 31959995 Free PMC article.
TRPP2 and autosomal dominant polycystic kidney disease.
Köttgen M. Köttgen M. Biochim Biophys Acta. 2007 Aug;1772(8):836-50. doi: 10.1016/j.bbadis.2007.01.003. Epub 2007 Jan 17. Biochim Biophys Acta. 2007. PMID: 17292589 Free article. Review.
TRPP channels and polycystins.
Hofherr A, Köttgen M. Hofherr A, et al. Among authors: kottgen m. Adv Exp Med Biol. 2011;704:287-313. doi: 10.1007/978-94-007-0265-3_16. Adv Exp Med Biol. 2011. PMID: 21290302 Review.
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