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Page 1
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. Boldt K, et al. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. Nat Commun. 2016. PMID: 27173435 Free PMC article.
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N. Lindstrand A, et al. Am J Hum Genet. 2016 Aug 4;99(2):318-36. doi: 10.1016/j.ajhg.2015.04.023. Am J Hum Genet. 2016. PMID: 27486776 Free PMC article.
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2014 Jan 2;94(1):73-9. doi: 10.1016/j.ajhg.2013.11.010. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360803 Free PMC article.
16 results