Associated Papers
Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.
Wąsowska A et al.
Genes, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Safka Brozkova D et al.
European Journal of Neurology, 2020
Roles of short fibulins, a family of matricellular proteins, in lung matrix assembly and disease.
Nakamura T
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Highly penetrant alleles in age-related macular degeneration.
den Hollander AI et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Cuticular drusen: stars in the sky.
Boon CJ et al.
Progress in Retinal and Eye Research, 2013
Translational attenuation differentially alters the fate of disease-associated fibulin proteins.
Hulleman JD et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M et al.
Brain : a Journal of Neurology, 2011
Biophysical characterisation of fibulin-5 proteins associated with disease.
Schneider R et al.
Journal of Molecular Biology, 2010
Unraveling the mechanism of elastic fiber assembly: The roles of short fibulins.
Yanagisawa H et al.
The International Journal of Biochemistry & Cell Biology, 2010
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
Jones RP et al.
Investigative Ophthalmology & Visual Science, 2010
Fibulin-5, an integrin-binding matricellular protein: its function in development and disease.
Yanagisawa H et al.
Journal of Cell Communication and Signaling, 2009
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery AJ et al.
Human Mutation, 2006