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Case Report: femoral aneurysm in patient with FBN2 mutation.
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]
Decellularized lung scaffolds treated with FBN-2 and TN-C prior to re-epithelialization supported greater epithelial proliferation and tissue remodeling.
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.
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.
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.
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.
DNA sequence variation within the FBN2 gene is associated with both Achilles tendon (AT) and anterior cruciate ligament (ACL) rupture.
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
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.
Fibrillin mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions
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.
These results suggest that both fibrillin-1 and fibrillin-2 are essential for the formation of thick oxytalan fibers in the ciliary zonule.
Data demonstrated that N-terminal fibrillin-2 epitopes are masked in postnatal microfibrils.
Data show that in wound healing and sclerotic skin diseases, a marked increase of fibrillin-2 expression was found by immunohistology.
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.
fibrillins can directly interact in an N- to C-terminal fashion to form homotypic fibrillin-1 or heterotypic fibrillin-1/fibrillin-2 microfibrils
there are distinct functions for fibrillin-2 in peripheral nerves
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.
Relaxin regulates its mRNA and protein expression by human dermal fibroblasts and murine fetal skin
Studies provide evidence for the unique role of fibrillin-2 in regulating BMP-dependent limb patterning and its distinct impact from fbn1 proteins on the commitment and differentiation of marrow mesenchymal stem cells. [review]
Fibrillin-2 and periostin are target genes in Osterix-mediated osteoblast differentiation.
These results suggest that both fibrillin-1 and fibrillin-2 expression is required to form thick oxytalan fibers in periodontal ligament.
Fibrillin-2 plays a role in forelimb muscle differentiation and infiltration of fat into the limb connective tissue space.
the bronchial epithelial dysplasia accompanying microfibril dysregulation in Adamtsl2(-/-) mice cannot be reversed by TGFbeta neutralization, and thus might be mediated by other mechanisms.
We propose that the Mp "worse-than-null" eye phenotype plausibly results from a failure in normal trafficking of proteins that are co-expressed with Fbn2 within the ciliary margin
Fbn2 has an indispensable role in ocular morphogenesis in mice. The high incidence of iris coloboma in Fbn2-null animals implies a previously unsuspected role in optic fissure closure.
fibrillin-2 exerts a greater positive influence on the mechanical properties of bone than fibrillin-1 assemblies
Fibrillin-1 and -2, the structural components of extracellular microfibrils, differentially regulate TGF-beta and bone morphogenetic protein (BMP) bioavailability in bone.
Findings indicate that Fbn2 is involved in integrity of structures required for strength in limb movement.
interaction with microfibril-associated glycoprotein-2
involvement of fibrillin-2 in the initial assembly of the aortic matrix overlaps in part with fibrillin-1 and continued fibrillin-1 deposition is absolutely required for the maturation and function of the vessel during neonatal life
demonstrate a role for fibrillin-2 in bone and soft connective tissue morphological and biochemical processes
coordinated expression of the E2F family is critical for the transcriptional regulation of fibrillin-2 during chondrogenesis.
The coordinate upregulation of fibrillin-1 and fibrillin-2 expression with the onset of tropoelastin production is consistent with a role in elastic fiber assembly.
This is the first study to investigate the expression and localization of fibrillin proteins and latent TGF-beta binding proteins affecting TGFbeta bioavailability in the ovary.
The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly.
, syndatyly ems
, fibrillin 2
, fibrillin 2 (congenital contractural arachnodactyly)
, LOW QUALITY PROTEIN: fibrillin-2