Associated Papers
Beyond the genome: a rare case report of cutis laxa.
Almheiri S et al.
Ame Case Reports, 2026
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
Changes in transmural mass transport correlate with ascending thoracic aortic aneurysm diameter in a fibulin-4 E57K knockin mouse model.
Crandall CL et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2023
Transforming Growth Factor-β and the Renin-Angiotensin System in Syndromic Thoracic Aortic Aneurysms: Implications for Treatment.
van Dorst DCH et al.
Cardiovascular Drugs and Therapy, 2021
Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.
Beyens A et al.
Advances in Experimental Medicine and Biology, 2021
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
A matricellular protein fibulin-4 is essential for the activation of lysyl oxidase.
Noda K et al.
Science Advances, 2020
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications.
Faggion Vinholo T et al.
Aorta (stamford, Conn.), 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
Genetics of the extracellular matrix in aortic aneurysmal diseases.
Lin CJ et al.
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 importance of lysyl oxidase family propeptide regions.
Trackman PC
Journal of Cell Communication and Signaling, 2018
Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.
Halabi CM et al.
Science Advances, 2017
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
Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.
Markova DZ et al.
Cell and Tissue Research, 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
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
Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.
Iascone M et al.
Circulation, 2012
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
In silico prediction of deleterious single amino acid polymorphisms from amino acid sequence.
Li S et al.
Journal of Computational Chemistry, 2011
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
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
Hoyer J et al.
Clinical Genetics, 2009
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
Dasouki M et al.
American Journal of Medical Genetics. Part A, 2007
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
Hucthagowder V et al.
American Journal of Human Genetics, 2006
Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation.
Erickson LK et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
Cutis Laxa Type 1 B with Recurrent E57K Variation.
Singh A et al.
Indian Journal of Dermatology, 0