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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D. Kolanczyk M, et al. Among authors: miaczynska m. Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916641 Free PMC article.
The new faces of endocytosis in signaling.
Hupalowska A, Miaczynska M. Hupalowska A, et al. Among authors: miaczynska m. Traffic. 2012 Jan;13(1):9-18. doi: 10.1111/j.1600-0854.2011.01249.x. Epub 2011 Aug 16. Traffic. 2012. PMID: 21752167 Free article. Review.
APPL1 regulates basal NF-κB activity by stabilizing NIK.
Hupalowska A, Pyrzynska B, Miaczynska M. Hupalowska A, et al. Among authors: miaczynska m. J Cell Sci. 2012 Sep 1;125(Pt 17):4090-102. doi: 10.1242/jcs.105171. Epub 2012 Jun 8. J Cell Sci. 2012. PMID: 22685329 Free PMC article.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D. Kolanczyk M, et al. Among authors: miaczynska m. Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278. Eur J Hum Genet. 2015. PMID: 25880334 Free PMC article. No abstract available.
Mosaic organization of the endocytic pathway.
Miaczynska M, Zerial M. Miaczynska M, et al. Exp Cell Res. 2002 Jan 1;272(1):8-14. doi: 10.1006/excr.2001.5401. Exp Cell Res. 2002. PMID: 11740860 Review. No abstract available.
Nuclear functions of endocytic proteins.
Pilecka I, Banach-Orlowska M, Miaczynska M. Pilecka I, et al. Among authors: miaczynska m. Eur J Cell Biol. 2007 Sep;86(9):533-47. doi: 10.1016/j.ejcb.2007.04.004. Epub 2007 Jun 20. Eur J Cell Biol. 2007. PMID: 17583371 Review.
68 results