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PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation.
Gulluni F, Prever L, Li H, Krafcikova P, Corrado I, Lo WT, Margaria JP, Chen A, De Santis MC, Cnudde SJ, Fogerty J, Yuan A, Massarotti A, Sarijalo NT, Vadas O, Williams RL, Thelen M, Powell DR, Schueler M, Wiesener MS, Balla T, Baris HN, Tiosano D, McDermott BM Jr, Perkins BD, Ghigo A, Martini M, Haucke V, Boura E, Merlo GR, Buchner DA, Hirsch E. Gulluni F, et al. Among authors: schueler m. Science. 2021 Dec 10;374(6573):eabk0410. doi: 10.1126/science.abk0410. Epub 2021 Dec 10. Science. 2021. PMID: 34882480 Free PMC article.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA. Tiosano D, et al. Among authors: schueler m. PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr. PLoS Genet. 2019. PMID: 31034465 Free PMC article.
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.
Knaup KX, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Büttner-Herold M, Pfister F, Schueler M, Seven D, May AM, Halbritter J, Gröne HJ, Reis A, Beck BB, Amann K, Ekici AB, Wiesener MS. Knaup KX, et al. Among authors: schueler m. J Am Soc Nephrol. 2018 Sep;29(9):2298-2309. doi: 10.1681/ASN.2018030245. Epub 2018 Jul 26. J Am Soc Nephrol. 2018. PMID: 30049680 Free PMC article.
Molecular diagnosis of kidney transplant failure based on urine.
Wiesener A, Knaup KX, Büttner-Herold M, Dieterle A, Stoeckert J, Riedl B, Morath C, Wald A, Vondran F, Braun F, Schödel J, Schueler M, Schiffer M, Amann K, Reis A, Kraus C, Wiesener MS. Wiesener A, et al. Among authors: schueler m. Am J Transplant. 2020 May;20(5):1410-1416. doi: 10.1111/ajt.15738. Epub 2020 Jan 20. Am J Transplant. 2020. PMID: 31814324 Free article.
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F. Austin-Tse C, et al. Among authors: schueler m. Am J Hum Genet. 2013 Oct 3;93(4):672-86. doi: 10.1016/j.ajhg.2013.08.015. Am J Hum Genet. 2013. PMID: 24094744 Free PMC article.
Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.
Grunert M, Dorn C, Schueler M, Dunkel I, Schlesinger J, Mebus S, Alexi-Meskishvili V, Perrot A, Wassilew K, Timmermann B, Hetzer R, Berger F, Sperling SR. Grunert M, et al. Among authors: schueler m. Hum Mol Genet. 2014 Jun 15;23(12):3115-28. doi: 10.1093/hmg/ddu021. Epub 2014 Jan 23. Hum Mol Genet. 2014. PMID: 24459294
72 results