Associated Papers
Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.
Favier M et al.
Prenatal Diagnosis, 2024
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
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
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.
Sasaki T et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2016
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
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.
Proost D et al.
Human Mutation, 2015
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
Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.
Sawyer SL et al.
American Journal of Medical Genetics. Part A, 2013
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
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Renard M et al.
European Journal of Human Genetics : Ejhg, 2010
Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature.
Deshpande S et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0