Associated Papers
Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene.
Ouyang L et al.
Frontiers in Genetics, 2024
Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.
Used-Gavín A et al.
European Heart Journal. Case Reports, 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
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management.
Thomas P et al.
Frontiers in Cardiovascular Medicine, 2021
Molecular dynamics simulations on human fibulin-4 mutants D203A and E126K reveal conformational changes in EGF domains potentially responsible for enhanced protease lability and impaired extracellular matrix assembly.
Sasaki T et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2019
Giant aortic aneurysm due to fibulin- 4 deficiency: case series.
Sülü A et al.
Turk Pediatri Arsivi, 2019
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.
Letard P et al.
Molecular Syndromology, 2018
Arterial tortuosity in genetic arteriopathies.
Morris SA
Current Opinion in Cardiology, 2015
Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.
Igoucheva O et al.
The Journal of Biological Chemistry, 2015
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.
Rajeshkannan R et al.
European Radiology, 2014
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.
Hebson C et al.
European Journal of Pediatrics, 2014
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
Kappanayil M et al.
Orphanet Journal of Rare Diseases, 2012
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