Associated Papers
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
IL36RN gene analysis of two Japanese patients with generalized pustular psoriasis.
Shiratori T et al.
International Journal of Dermatology, 2015
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
Hadj-Rabia S et al.
Orphanet Journal of Rare Diseases, 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
No mutation of elastin and fibulin-5 genes in a patient with acquired cutis laxa associated with chronic urticaria.
Sun XK et al.
The British Journal of Dermatology, 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
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
Mégarbané H et al.
The Journal of Investigative Dermatology, 2009
Pseudo-vitelliform macular detachment and cuticular drusen: exclusion of 6 candidate genes.
Barbazetto IA et al.
Ophthalmic Genetics, 2007
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
Hu Q et al.
Human Molecular Genetics, 2006
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery AJ et al.
Human Mutation, 2006
Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes.
Hu Q et al.
The Journal of Investigative Dermatology, 2006