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Page 1
Characterizing the morbid genome of ciliopathies.
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup; Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Shaheen R, et al. Among authors: ueffing m. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
From quantitative protein complex analysis to disease mechanism.
Texier Y, Kinkl N, Boldt K, Ueffing M. Texier Y, et al. Among authors: ueffing m. Vision Res. 2012 Dec 15;75:108-11. doi: 10.1016/j.visres.2012.08.016. Epub 2012 Sep 23. Vision Res. 2012. PMID: 23010258 Free article. Review.
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE. Cevik S, et al. Among authors: ueffing m. PLoS Genet. 2013;9(12):e1003977. doi: 10.1371/journal.pgen.1003977. Epub 2013 Dec 5. PLoS Genet. 2013. PMID: 24339792 Free PMC article.
Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry.
Texier Y, Toedt G, Gorza M, Mans DA, van Reeuwijk J, Horn N, Willer J, Katsanis N, Roepman R, Gibson TJ, Ueffing M, Boldt K. Texier Y, et al. Among authors: ueffing m. Mol Cell Proteomics. 2014 May;13(5):1382-91. doi: 10.1074/mcp.O113.033233. Epub 2014 Feb 21. Mol Cell Proteomics. 2014. PMID: 24563533 Free PMC article.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: ueffing m. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E. Bachmann-Gagescu R, et al. Among authors: ueffing m. PLoS Genet. 2015 Oct 20;11(10):e1005575. doi: 10.1371/journal.pgen.1005575. eCollection 2015 Oct. PLoS Genet. 2015. PMID: 26485645 Free PMC article.
337 results