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Page 1
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Ü Basmanav FB, et al. Among authors: oprisoreanu am. Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17. Am J Hum Genet. 2016. PMID: 27866708 Free PMC article.
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC. Basmanav FB, et al. Among authors: oprisoreanu am. Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003. Am J Hum Genet. 2014. PMID: 24387993 Free PMC article.
RIM2α is a molecular scaffold for Zona pellucida-induced acrosome reaction.
Weber N, Vieweg L, Henze F, Oprisoreanu AM, Solinski HJ, Breit A, Fecher-Trost C, Schalkowsky P, Wilhelm B, Wennemuth G, Schoch S, Gudermann T, Boekhoff I. Weber N, et al. Among authors: oprisoreanu am. J Mol Cell Biol. 2014 Oct;6(5):434-7. doi: 10.1093/jmcb/mju037. Epub 2014 Sep 19. J Mol Cell Biol. 2014. PMID: 25240052 No abstract available.
A presynaptic phosphosignaling hub for lasting homeostatic plasticity.
Müller JA, Betzin J, Santos-Tejedor J, Mayer A, Oprişoreanu AM, Engholm-Keller K, Paulußen I, Gulakova P, McGovern TD, Gschossman LJ, Schönhense E, Wark JR, Lamprecht A, Becker AJ, Waardenberg AJ, Graham ME, Dietrich D, Schoch S. Müller JA, et al. Among authors: oprisoreanu am. Cell Rep. 2022 Apr 19;39(3):110696. doi: 10.1016/j.celrep.2022.110696. Cell Rep. 2022. PMID: 35443170 Free article.
A unique macrophage subpopulation signals directly to progenitor cells to promote regenerative neurogenesis in the zebrafish spinal cord.
Cavone L, McCann T, Drake LK, Aguzzi EA, Oprişoreanu AM, Pedersen E, Sandi S, Selvarajah J, Tsarouchas TM, Wehner D, Keatinge M, Mysiak KS, Henderson BEP, Dobie R, Henderson NC, Becker T, Becker CG. Cavone L, et al. Among authors: oprisoreanu am. Dev Cell. 2021 Jun 7;56(11):1617-1630.e6. doi: 10.1016/j.devcel.2021.04.031. Epub 2021 May 24. Dev Cell. 2021. PMID: 34033756 Free article.
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