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No common variant of FBN2 was, however, found to be significantly associated with AIS.
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Case Report: femoral aneurysm in patient with FBN2 mutation.
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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]
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Decellularized lung scaffolds treated with FBN-2 and TN-C prior to re-epithelialization supported greater epithelial proliferation and tissue remodeling.
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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.
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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.
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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.
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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.
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DNA sequence variation within the FBN2 gene is associated with both Achilles tendon (AT) and anterior cruciate ligament (ACL) rupture.
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Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
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we demonstrate an important role for FBN1 and FBN2 in AIS pathogenesis. We show that rare variants are enriched in severely affected AIS patients and are significantly associated with curve severity.
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Fibrillin mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions
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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.
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These results suggest that both fibrillin-1 and fibrillin-2 are essential for the formation of thick oxytalan fibers in the ciliary zonule.
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Data demonstrated that N-terminal fibrillin-2 epitopes are masked in postnatal microfibrils.
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Data show that in wound healing and sclerotic skin diseases, a marked increase of fibrillin-2 expression was found by immunohistology.
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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.
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fibrillins can directly interact in an N- to C-terminal fashion to form homotypic fibrillin-1 or heterotypic fibrillin-1/fibrillin-2 microfibrils
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there are distinct functions for fibrillin-2 in peripheral nerves
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In kidney, liver, rib anlagen, notochord fibrillin-1 and fibrillin-2 are distributed differentially. Different roles for fibrillin-1 and -2 in the development of these structures.