Associated Papers
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
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.
Gharesouran J et al.
Orphanet Journal of Rare Diseases, 2021
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
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
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
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
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
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery AJ et al.
Human Mutation, 2006
Missense variations in the fibulin 5 gene and age-related macular degeneration.
Stone EM et al.
The New England Journal of Medicine, 2004
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