FBN2 Antibody, Biotin conjugated

1. Case Report: femoral aneurysm in patient with FBN2 mutation. PMID: 29742989
2. Sequencing analysis showed a novel missense mutation in exon 30 of FBN2 gene [c.3973G>A, p.Asp1325Asn; Chr5 (g.127670862C>T) according to NM_001999.3] PMID: 29864108
3. Decellularized lung scaffolds treated with FBN-2 and TN-C prior to re-epithelialization supported greater epithelial proliferation and tissue remodeling. PMID: 28662401
4. BAV patients have an increased FBN (especially FBN2) gene expression level in the ascending aorta, irrespective of dilatation, whereas MMP expression does not change significantly. PMID: 27634926
5. A novel missense mutation, c.3769T>C (p.C1257R) in FBN2 was identified responsible for the genetic cause in a family with congenital contractural arachnodactyly. PMID: 27196565
6. Study described a novel mutation seen in a family with three generations of congenital contractural arachnodactyly (CCA). Whole exome sequencing in two affected individuals identified a novel missense mutation in the FBN2 gene in all affected family members. PMID: 28379158
7. The presence of the splice site mutation in FBN2 gene has been confirmed in a Japanese family with congenital contractural arachnodactyly complicated with aortic dilatation and dissection. PMID: 25975422
8. DNA sequence variation within the FBN2 gene is associated with both Achilles tendon (AT) and anterior cruciate ligament (ACL) rupture. PMID: 25429546
9. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. PMID: 24899048
10. There was no association of overall methylation of FBN2 in the serum DNA with age, maximal tumor size, extent of tumor, tumor site, histology, presence of lymph node metastasis, distant metastasis, or Dukes' stage. PMID: 23060561
11. Data demonstrated that N-terminal fibrillin-2 epitopes are masked in postnatal microfibrils. PMID: 20404337
12. Data show that in wound healing and sclerotic skin diseases, a marked increase of fibrillin-2 expression was found by immunohistology. PMID: 20195245
13. Ten novel mutations have been identified in the critical region of FBN2, indicating a mutation detection rate of 75% in this limited region; none of the mutations altered amino acids in the calcium binding consensus sequence of EGF-like domains. PMID: 11754102
14. fibrillins can directly interact in an N- to C-terminal fashion to form homotypic fibrillin-1 or heterotypic fibrillin-1/fibrillin-2 microfibrils PMID: 12399449
15. there are distinct functions for fibrillin-2 in peripheral nerves PMID: 12429739
16. Relaxin regulates its mRNA and protein expression by human dermal fibroblasts and murine fetal skin PMID: 12590922
17. No associations of intracranial aneurysm and FBN2 were found. PMID: 12750963
18. A comprehensive genetic analysis of FBN2 was performed in patients with Marfan syndrome or Marfan-related phenotypes. PMID: 16835936
19. In 14 probands, 13 new and one previously described FBN2 mutation including a mutation in exon 17, expanding the region in which FBN2 mutations occur in CCA. PMID: 19006240
20. Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma. PMID: 19288010
21. EGFR, fibrillin-2, P-cadherin and AP2beta as biomarkers for rhabdomyosarcoma diagnostics. PMID: 19469909
22. A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly is reported. PMID: 19473076
23. Examine association between FBN2 SNPs and intracranial aneurysms in Japanese cohort. PMID: 19506372

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HGNC: 3604

OMIM: 121050

KEGG: hsa:2201

STRING: 9606.ENSP00000262464

UniGene: Hs.519294