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Πλοήγηση ανά Θέμα "elastin"

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    • Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration 

      Ratnapriya, R.; Zhan, X.; Fariss, R. N.; Branham, K. E.; Zipprer, D.; Chakarova, C. F.; Sergeev, Y. V.; Campos, M. M.; Othman, M.; Friedman, J. S.; Maminishkis, A.; Waseem, N. H.; Brooks, M.; Rajasimha, H. K.; Edwards, A. O.; Lotery, A.; Klein, B. E.; Truitt, B. J.; Li, B.; Schaumberg, D. A.; Morgan, D. J.; Morrison, M. A.; Souied, E.; Tsironi, E. E.; Grassmann, F.; Fishman, G. A.; Silvestri, G.; Scholl, H. P. N.; Kim, I. K.; Ramke, J.; Tuo, J.; Merriam, J. E.; Merriam, J. C.; Park, K. H.; Olson, L. M.; Farrer, L. A.; Johnson, M. P.; Peachey, N. S.; Lathrop, M.; Baron, R. V.; Igo, R. P.; Klein, R.; Hagstrom, S. A.; Kamatani, Y.; Martin, T. M.; Jiang, Y.; Conley, Y.; Sahel, J. A.; Zack, D. J.; Chan, C. C.; Pericak-Vance, M. A.; Jacobson, S. G.; Gorin, M. B.; Klein, M. L.; Allikmets, R.; Iyengar, S. K.; Weber, B. H.; Haines, J. L.; Léveillard, T.; Deangelis, M. M.; Stambolian, D.; Weeks, D. E.; Bhattacharya, S. E.; Chew, E. Y.; Heckenlively, J. R.; Abecasis, G. R.; Swaroop, A. (2014)
      Neurodegenerative diseases affecting the macula constitute amajor cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial lateonset ...

    • Systemic Biomarkers of Collagen and Elastin Turnover Are Associated With Clinically Relevant Outcomes in COPD 

      Stolz D., Leeming D.J., Kristensen J.H.E., Karsdal M.A., Boersma W., Louis R., Milenkovic B., Kostikas K., Blasi F., Aerts J., Sand J.M.B., Wouters E.F.M., Rohde G., Prat C., Torres A., Welte T., Roth M., Papakonstantinou E., Tamm M. (2017)
      Background Extracellular matrix (ECM) remodeling of the lung tissue releases protein fragments into the blood, where they may be detected as serologic surrogate markers of disease activity in COPD. Our goal was to assess ...

    • Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach 

      Paterakis K., Koutsias S., Doxani C., Xanthopoulou P., Kokkali C., Mpoulimari I., Tziastoudi M., Karampelas I., Dardiotis E., Hadjigeorgiou G., Brotis A.G., Zintzaras E. (2017)
      Background: The presence of an intracranial aneurysm (IA) is thought to have a genetic origin. The genetic association studies (GAS) that investigated the association between IA and elastin gene (ELN) variants have produced ...