Associated Papers
Ocular Manifestations in Congenital Cutis Laxa: A Case Series.
Van Slycken A et al.
Cornea, 2025
Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome.
Kapuganti RS et al.
Bioscience Reports, 2023
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature.
Tekmenuray-Unal A et al.
Molecular Syndromology, 2023
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
De novo variants in an extracellular matrix protein coding gene, fibulin-5 (FBLN5) are associated with pseudoexfoliation.
Padhy B et al.
European Journal of Human Genetics : Ejhg, 2019
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
Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.
Papke CL et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2014
Elastic fibres in health and disease.
Baldwin AK et al.
Expert Reviews in Molecular Medicine, 2013
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B et al.
Human Mutation, 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
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
Lin DS et al.
American Journal of Medical Genetics. Part A, 2011
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M et al.
Brain : a Journal of Neurology, 2011
Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case.
Debret R et al.
The Journal of Investigative Dermatology, 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
Differential regulation of elastic fiber formation by fibulin-4 and -5.
Choudhury R et al.
The Journal of Biological Chemistry, 2009
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
Claus S et al.
The Journal of Investigative Dermatology, 2008
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