Associated Papers
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
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
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
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
Differential regulation of elastic fiber formation by fibulin-4 and -5.
Choudhury R et al.
The Journal of Biological Chemistry, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.
Scherrer DZ et al.
American Journal of Medical Genetics. Part A, 2008
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
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
Elahi E et al.
The Journal of Investigative Dermatology, 2006
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery AJ et al.
Human Mutation, 2006
Fibulins in development and heritable disease.
Chu ML et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2004
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
Loeys B et al.
Human Molecular Genetics, 2002