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EGF containing fibulin-like extracellular matrix protein 2

fibulin-4, Fbln4, EFEMP2
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] (from NCBI)
Top mentioned proteins: elastin, fibrillin-1, fibulin-5, CAN, HAD
Papers on fibulin-4
Grass carp Ctenopharyngodon idella Fibulin-4 as a potential interacting partner for grass carp reovirus outer capsid proteins.
Lu et al., Shanghai, China. In Fish Shellfish Immunol, Jan 2016
Mammalian EGF containing fibulin-like extracellular matrix protein 2 (Fibulin-4/EFEMP2), an extracellular matrix(ECM) protein and a member of the fibulin family, is involved in elastic fiber formation, connective tissue development and some human diseases.
Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure.
Milewicz et al., Houston, United States. In Can J Cardiol, Jan 2016
Included in this gene list are the genes encoding protein that are structural components of elastin fibres and microfibrils, FBN1, MFAP5, ELN, and FBLN4.
Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.
Chu et al., Philadelphia, United States. In Cell Tissue Res, Jan 2016
UNASSIGNED: Fibulin-4 is an extracellular matrix glycoprotein essential for elastic fiber formation.
Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking.
von der Mark et al., Erlangen, Germany. In Matrix Biol, Jan 2016
In order to elucidate the role of fibulin-4 in bone structure and skeletal development, we analyzed structural changes in skeletal tissues of Fbln4(-/-) mice.
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
Elefteriades et al., New Haven, United States. In Ann Thorac Surg, Nov 2015
The following 21-gene panel was tested by WES: ACTA2, ADAMTS10, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ELN, FBLN4, FLNA, FBN1, FBN2, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2.
Abnormal mechanosensing and cofilin activation promote the progression of ascending aortic aneurysms in mice.
Yanagisawa et al., Dallas, United States. In Sci Signal, Nov 2015
Fbln4(SMKO) mice with an SMC-specific deletion of the Fbln4 gene, which encodes the vascular ECM component fibulin-4, develop ascending aortic aneurysms that have increased abundance of angiotensin-converting enzyme (ACE); inhibiting angiotensin II signaling within the first month of life prevents aneurysm development.
Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations.
Yanagisawa et al., Dallas, United States. In Hum Mol Genet, Nov 2015
Homozygous recessive mutations in either EFEMP2 (encoding fibulin-4) or FBLN5 (encoding fibulin-5), critical genes for elastogenesis, lead to autosomal recessive cutis laxa types 1B and 1A, respectively.
Genetics of hereditary large vessel diseases.
Morisaki et al., Ōsaka, Japan. In J Hum Genet, Nov 2015
Genes identified for these diseases include FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, SKI, EFEMP2, COL3A1, FLNA, ACTA2, MYH11, MYLK and SLC2A10, as well as others.
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.
Chu et al., Ōita, Japan. In J Biol Chem, Sep 2015
Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, and skeletal abnormalities.
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
Majoor-Krakauer et al., Rotterdam, Netherlands. In Hum Genet, Aug 2015
The thoracic aneurysm genes selected for this study were the transforming growth factor-beta pathway genes EFEMP2, FBN1, SMAD3, TGBF2, TGFBR1, TGFBR2, and the smooth muscle cells genes ACTA2, MYH11 and MYLK.
Differences in genetic signaling, and not mechanical properties of the wall, are linked to ascending aortic aneurysms in fibulin-4 knockout mice.
Wagenseil et al., Tsukuba, Japan. In Am J Physiol Heart Circ Physiol, Aug 2015
Newborn mice lacking fibulin-4 (Fbln4(-/-)) have aneurysms in the AA, but narrowing in the descending aorta (DA), and are a unique model to investigate locational differences in aneurysm susceptibility.
EFEMP2 is upregulated in gliomas and promotes glioma cell proliferation and invasion.
Deng et al., Wuhan, China. In Int J Clin Exp Pathol, 2014
Although EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2), an extracellular matrix (ECM) glycoprotein, is regarded as a candidate oncogene, little is known about the association of EFEMP2 and gliomas.
Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome.
Schlötzer-Schrehardt et al., Erlangen, Germany. In J Glaucoma, 2014
Eyes with XFS with and without glaucoma, and normal control eyes were analyzed for major elastic fiber components (elastin, fibrillin-1, fibulin-4), and lysyl oxidase (LOX) enzymes by real-time PCR, immunohistochemistry, and electron microscopy.
Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.
Yanagisawa et al., Dallas, United States. In Matrix Biol, 2014
In contrast, fibulin-4 null (Fbln4(-/-)) mice die during the perinatal period due to rupture of aortic aneurysms, indicating differential functions of fibulin-4 and fibulin-5 in normal development.
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.
Kogon et al., Atlanta, United States. In Eur J Pediatr, 2014
UNLABELLED: Mutations in the EFEMP2 (alias FBLN4) gene, which encodes the extracellular matrix protein fibulin-4, lead to severe aortopathy with aneurysm formation and vascular tortuosity.
Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.
Al-Fayyadh et al., Riyadh, Saudi Arabia. In Am J Cardiol, 2012
In this largest cohort of reported patients with a mutated EFEMP2 gene, we illustrate the phenotypic spectrum of inherited AA due to a novel EFEMP2 mutation.
Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation.
Zhou et al., Salt Lake City, United States. In Pediatr Dev Pathol, 2012
FBLN4 has 10 coding exons
Impaired vascular contractility and aortic wall degeneration in fibulin-4 deficient mice: effect of angiotensin II type 1 (AT1) receptor blockade.
Essers et al., Rotterdam, Netherlands. In Plos One, 2010
Data show that the structural and functional alterations were accompanied by upregulation of TGF-beta signaling in aortas from fibulin-4 deficient mice.
Multimodality imaging reveals a gradual increase in matrix metalloproteinase activity at aneurysmal lesions in live fibulin-4 mice.
Essers et al., Leiden, Netherlands. In Circ Cardiovasc Imaging, 2010
Report coregistration of MMP activity by noninvasive tomographic imaging methods allows the detection of increased MMP activity, even before the aneurysm has actually formed in fibulin-4 deficient mice.
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Loeys et al., Gent, Belgium. In Eur J Hum Genet, 2010
patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis; evidence for the involvement of altered TGFbeta signaling in the pathogenesis of FBLN4 mutations
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