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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 (show TNC Proteins) prior to re-epithelialization supported greater epithelial proliferation and tissue remodeling.
BAV patients have an increased FBN (show FBN1 Proteins) (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 (show ACLY Proteins)) rupture.
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
we demonstrate an important role for FBN1 (show FBN1 Proteins) and FBN2 in AIS (show AR Proteins) pathogenesis. We show that rare variants are enriched in severely affected AIS (show AR Proteins) patients and are significantly associated with curve severity.
Studies provide evidence for the unique role of fibrillin-2 in regulating BMP-dependent limb patterning and its distinct impact from fbn1 (show FBN1 Proteins) proteins on the commitment and differentiation of marrow mesenchymal stem cells. [review]
Fibrillin-2 and periostin (show POSTN Proteins) are target genes in Osterix (show SP7 Proteins)-mediated osteoblast differentiation.
These results suggest that both fibrillin-1 (show FBN1 Proteins) 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 (show TGFB1 Proteins) 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 (show FBN1 Proteins) 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.
The coordinate upregulation of fibrillin-1 (show FBN1 Proteins) and fibrillin-2 expression with the onset of tropoelastin (show ELN Proteins) 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 (show TGFB1 Proteins) binding proteins affecting TGFbeta (show TGFB1 Proteins) 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