Recombinant Human EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2)

1. different mutations in the fibulin-4 gene result in different molecular defects affecting secretion rates, protein stability, LOX-induced cross-linking, or binding to other ECM components and molecules of the TGF-beta pathway. PMID: 27339457
2. the expression of fibulin-4 was negatively correlated with the malignant phenotype of endometrial cancer cells. Fibulin-4 may have the ability to suppress endometrial cancer cell invasion and proliferation PMID: 28177909
3. The results revealed that fibulin-4 expression was upregulated in osteosarcoma, and was positively correlated with low differentiation, lymph node metastasis, and poor prognosis. Fibulin-4 was also found to be over-expressed in highly invasive cell lines and in the highly invasive subclones PMID: 28339091
4. Findings suggested that fibulin-4 is important for the proteolytic activation of lysyl oxidase which has a pivotal role in cross-linking of collagen and elastin. PMID: 26690653
5. Data indicates that Fibulin-4 is a novel gene that is found overexpressed in ovarian cancer and associated with poor prognostic clinicopathologic features. PMID: 25885889
6. pulmonary emphysema in aneurysmal Fibulin-4 deficient (Fibulin-4(R)) mice PMID: 25255451
7. Homozygous mutations in exon 7 of the FBLN4 gene can produce lethal vasculopathy. PMID: 24838734
8. This study demonstrated that fibulin-4 may serve as a new prognostic factor and as a potential therapeutic target for patients with cervical carcinoma. PMID: 24737201
9. The expression level of EFEMP2 is dramatically increased in colorectal cancer patients, even at the early stage, compared with healthy controls. PMID: 22506683
10. Studied Fibulin-4 expression in aortic wall to find out its role in aortic dissection development. Used samples of aortic wall from 10 patients operated for acute ascending aortic dissection and five patients for chronic ascending aortic dissection. PMID: 23518852
11. A lethal, genetic disorder characterized by severe deformation of elastic arteries, was linked to novel mutations in the FBLN4 gene. PMID: 22943132
12. Low EFEMP2 expression is associated with malignant pleural mesothelioma. PMID: 23313295
13. EFEMP2 is a novel PITX2-interacting protein that may bear importance for the development of anterior segment dysgenesis (ASD) and glaucoma. PMID: 22919265
14. FBLN4 has 10 coding exons PMID: 22070778
15. 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. PMID: 22440127
16. 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 PMID: 20389311
17. Fibulin-4, expressed in chondrocytes and recognized as an autoantigen mainly in osteoarthritis (OA) rather than in rheumatoid arthritis, may play pathogenic roles in OA. PMID: 16493080
18. Fibulin-4, considered as a structural protein, may also participate in regulating elastic-fibre formation in human cells through the regulation of tropoelastin expression. PMID: 19627254

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HGNC: 3219

OMIM: 604633

KEGG: hsa:30008

STRING: 9606.ENSP00000309953

UniGene: Hs.731454