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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: sailer aw. 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 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: sailer aw. 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 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: sailer aw. Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666. Nat Commun. 2015. PMID: 26487268 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: sailer aw. Front Immunol. 2017 Dec 15;8:1824. doi: 10.3389/fimmu.2017.01824. eCollection 2017. Front Immunol. 2017. PMID: 29375547 Free PMC article.
Identification of the C3a receptor (C3AR1) as the target of the VGF-derived peptide TLQP-21 in rodent cells.
Hannedouche S, Beck V, Leighton-Davies J, Beibel M, Roma G, Oakeley EJ, Lannoy V, Bernard J, Hamon J, Barbieri S, Preuss I, Lasbennes MC, Sailer AW, Suply T, Seuwen K, Parker CN, Bassilana F. Hannedouche S, et al. Among authors: sailer aw. J Biol Chem. 2013 Sep 20;288(38):27434-27443. doi: 10.1074/jbc.M113.497214. Epub 2013 Aug 12. J Biol Chem. 2013. PMID: 23940034 Free PMC article.
Genome-wide CRISPR screen for PARKIN regulators reveals transcriptional repression as a determinant of mitophagy.
Potting C, Crochemore C, Moretti F, Nigsch F, Schmidt I, Manneville C, Carbone W, Knehr J, DeJesus R, Lindeman A, Maher R, Russ C, McAllister G, Reece-Hoyes JS, Hoffman GR, Roma G, Müller M, Sailer AW, Helliwell SB. Potting C, et al. Among authors: sailer aw. Proc Natl Acad Sci U S A. 2018 Jan 9;115(2):E180-E189. doi: 10.1073/pnas.1711023115. Epub 2017 Dec 21. Proc Natl Acad Sci U S A. 2018. PMID: 29269392 Free PMC article.
Target identification for a Hedgehog pathway inhibitor reveals the receptor GPR39.
Bassilana F, Carlson A, DaSilva JA, Grosshans B, Vidal S, Beck V, Wilmeringwetter B, Llamas LA, Showalter TB, Rigollier P, Bourret A, Ramamurthy A, Wu X, Harbinski F, Plonsky S, Lee L, Ruffner H, Grandi P, Schirle M, Jenkins J, Sailer AW, Bouwmeester T, Porter JA, Myer V, Finan PM, Tallarico JA, Kelleher JF 3rd, Seuwen K, Jain RK, Luchansky SJ. Bassilana F, et al. Among authors: sailer aw. Nat Chem Biol. 2014 May;10(5):343-9. doi: 10.1038/nchembio.1481. Epub 2014 Mar 16. Nat Chem Biol. 2014. PMID: 24633354
74 results