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