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Dominant-negative SOX9 mutations in campomelic dysplasia.
Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH. Csukasi F, et al. Among authors: duran i. Hum Mutat. 2019 Dec;40(12):2344-2352. doi: 10.1002/humu.23888. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31389106 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. 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.
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ; University of Washington Center for Mendelian Genomics; Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. Toriyama M, et al. Among authors: duran i. Nat Genet. 2016 Jun;48(6):648-56. doi: 10.1038/ng.3558. Epub 2016 May 9. Nat Genet. 2016. PMID: 27158779 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: duran i. 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.
379 results