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An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice.
Kimura T, Bosakova M, Nonaka Y, Hruba E, Yasuda K, Futakawa S, Kubota T, Fafilek B, Gregor T, Abraham SP, Gomolkova R, Belaskova S, Pesl M, Csukasi F, Duran I, Fujiwara M, Kavkova M, Zikmund T, Kaiser J, Buchtova M, Krakow D, Nakamura Y, Ozono K, Krejci P. Kimura T, et al. Among authors: krakow d. Sci Transl Med. 2021 May 5;13(592):eaba4226. doi: 10.1126/scitranslmed.aba4226. Sci Transl Med. 2021. PMID: 33952673
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. Lee H, et al. Among authors: krakow d. Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464252 Free PMC article.
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.
Duran I, Nevarez L, Sarukhanov A, Wu S, Lee K, Krejci P, Weis M, Eyre D, Krakow D, Cohn DH. Duran I, et al. Among authors: krakow d. Hum Mol Genet. 2015 Apr 1;24(7):1918-28. doi: 10.1093/hmg/ddu608. Epub 2014 Dec 15. Hum Mol Genet. 2015. PMID: 25510505 Free PMC article.
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A; University of Washington Center for Mendelian Genomics; Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P. Paige Taylor S, et al. Among authors: krakow d. Hum Mol Genet. 2016 Sep 15;25(18):3998-4011. doi: 10.1093/hmg/ddw240. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466187 Free PMC article.
246 results