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Page 1
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Macia MS, et al. Among authors: oakeley ej. Am J Hum Genet. 2017 Feb 2;100(2):372. doi: 10.1016/j.ajhg.2017.01.025. Am J Hum Genet. 2017. PMID: 28157543 Free PMC article. No abstract available.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Macia MS, et al. Among authors: oakeley ej. Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. Epub 2017 Jan 12. Am J Hum Genet. 2017. PMID: 28089251 Free PMC article.
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschké P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NAS, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S. Bizet AA, et al. Among authors: oakeley ej. Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666. Nat Commun. 2015. PMID: 26487268 Free PMC article.
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, Ersland KM, Grayson W, Buechmann-Moller S, Sundnes O, Nirmala N, Morgan TM, van Bokhoven H, Steen VM, Hull PR, Szustakowski J, Staedtler F, Zhou H, Fiskerstrand T, Ramsay M. Ngcungcu T, et al. Among authors: oakeley ej. Am J Hum Genet. 2017 May 4;100(5):737-750. doi: 10.1016/j.ajhg.2017.03.012. Epub 2017 Apr 27. Am J Hum Genet. 2017. PMID: 28457472 Free PMC article.
LMX1B mutations cause hereditary FSGS without extrarenal involvement.
Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tête MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschké P, Gubler MC, Johnson KJ, Chibout SD, Antignac C. Boyer O, et al. Among authors: oakeley ej. J Am Soc Nephrol. 2013 Jul;24(8):1216-22. doi: 10.1681/ASN.2013020171. Epub 2013 May 16. J Am Soc Nephrol. 2013. PMID: 23687361 Free PMC article.
An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.
Sic H, Speletas M, Cornacchione V, Seidl M, Beibel M, Linghu B, Yang F, Sevdali E, Germenis AE, Oakeley EJ, Vangrevelinghe E, Sailer AW, Traggiai E, Gram H, Eibel H. Sic H, et al. Among authors: oakeley ej. Front Immunol. 2017 Dec 15;8:1824. doi: 10.3389/fimmu.2017.01824. eCollection 2017. Front Immunol. 2017. PMID: 29375547 Free PMC article.
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.
Brykczynska U, Pecho-Vrieseling E, Thiemeyer A, Klein J, Fruh I, Doll T, Manneville C, Fuchs S, Iazeolla M, Beibel M, Roma G, Naumann U, Kelley N, Oakeley EJ, Mueller M, Gomez-Mancilla B, Bühler M, Tabolacci E, Chiurazzi P, Neri G, Bouwmeester T, Di Giorgio FP, Fodor BD. Brykczynska U, et al. Among authors: oakeley ej. Stem Cell Reports. 2016 Dec 13;7(6):1059-1071. doi: 10.1016/j.stemcr.2016.10.004. Epub 2016 Nov 10. Stem Cell Reports. 2016. PMID: 27840045 Free PMC article.
High-resolution chemical dissection of a model eukaryote reveals targets, pathways and gene functions.
Hoepfner D, Helliwell SB, Sadlish H, Schuierer S, Filipuzzi I, Brachat S, Bhullar B, Plikat U, Abraham Y, Altorfer M, Aust T, Baeriswyl L, Cerino R, Chang L, Estoppey D, Eichenberger J, Frederiksen M, Hartmann N, Hohendahl A, Knapp B, Krastel P, Melin N, Nigsch F, Oakeley EJ, Petitjean V, Petersen F, Riedl R, Schmitt EK, Staedtler F, Studer C, Tallarico JA, Wetzel S, Fishman MC, Porter JA, Movva NR. Hoepfner D, et al. Among authors: oakeley ej. Microbiol Res. 2014 Feb-Mar;169(2-3):107-20. doi: 10.1016/j.micres.2013.11.004. Epub 2013 Dec 1. Microbiol Res. 2014. PMID: 24360837 Free article.
77 results