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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. van de Laar IM, et al. Among authors: kros jm. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753
The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.
Bergink S, Severijnen LA, Wijgers N, Sugasawa K, Yousaf H, Kros JM, van Swieten J, Oostra BA, Hoeijmakers JH, Vermeulen W, Willemsen R. Bergink S, et al. Among authors: kros jm. Neurobiol Dis. 2006 Sep;23(3):708-16. doi: 10.1016/j.nbd.2006.06.005. Epub 2006 Jul 24. Neurobiol Dis. 2006. PMID: 16860562
A crucial role of caldesmon in vascular development in vivo.
Zheng PP, Severijnen LA, van der Weiden M, Willemsen R, Kros JM. Zheng PP, et al. Among authors: kros jm. Cardiovasc Res. 2009 Feb 1;81(2):362-9. doi: 10.1093/cvr/cvn294. Epub 2008 Nov 3. Cardiovasc Res. 2009. PMID: 18980955
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM. Verkerk AJ, et al. Among authors: kros jm. Am J Hum Genet. 2009 Jul;85(1):40-52. doi: 10.1016/j.ajhg.2009.06.004. Epub 2009 Jun 25. Am J Hum Genet. 2009. PMID: 19559397 Free PMC article.
313 results