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RNF213 encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. Zusätzlich bieten wir Ihnen RNF213 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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Human Polyclonal RNF213 Primary Antibody für WB - ABIN2775171
Cools, Wlodarska, Somers, Mentens, Pedeutour, Maes, De Wolf-Peeters, Pauwels, Hagemeijer, Marynen: Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. in Genes, chromosomes & cancer 2002
Human Polyclonal RNF213 Primary Antibody für EIA, IHC (p) - ABIN375240
Zody, Garber, Adams, Sharpe, Harrow, Lupski, Nicholson, Searle, Wilming, Young, Abouelleil, Allen, Bi, Bloom, Borowsky, Bugalter, Butler, Chang, Chen, Cook, Corum, Cuomo, de Jong, DeCaprio, Dewar et al.: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. ... in Nature 2006
RNF213 plays unique roles in endothelial cells for proper gene expressions in response to inflammatory signals from environments.
There are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and Moyamoya disease (Meta-analysis).
RNF213 was not associated with bipolar disorder or schizophrenia.
Gene-based association analyses shows nominal significant association with multifocal fibromuscular dysplasia for RNF213.
results confirm that the RNF213 p.Arg4810Lys variant is not uncommon in the general Korean population and provide reference data for the association of this variant and MMD
Not only p.4810K but also other functional missense variants of RNF213 conferred susceptibility to moyamoya disease(MMD).
This study demonstrated that the RNF213 mutation should form part of the diagnostic workup for moyamoya in clinical practice.
Nonatherosclerotic quasi-MMD did not have RNF213 c.14576G>A variant.
vascular wall was significantly thinner in RNF213-/- mice at 14 days
Study identified of a novel RNF213 variant in a three-generation family of European ancestry with intracerebral vasculopathy displaying variability in age of onset and clinical severity
The Rnf213 gene was up-regulated in the ischemic brain, especially at the penumbra (zeige TSPAN33 Antikörper) area, as early as 6 h after transient middle cerebral artery occlusion
Suggest that RNF213 R4810K carriers have lower angiogenic capacities, indicating that they might be more susceptible to insults of cerebral hypoxia.
Angiogenesis was enhanced in mice lacking RNF213 after chronic hind-limb ischemia, which suggested the potential role of the RNF213 abnormality in the development of pathological vascular networks in chronic ischemia.
Functional loss of RNF213 did not sufficiently induce moyamoya disese. Suppression of vascular remodeling in RNF213-/- requires further examination to clarify the role of RNF213.
These findings indicated that the disruption of Rnf213 improved glucose tolerance by protecting islet beta cells.
This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2\;17)(p23\;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8\;17)(q24\;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants.
ring finger protein 213
, protein ALO17-like
, ALK lymphoma oligomerization partner on chromosome 17
, E3 ubiquitin-protein ligase RNF213
, protein ALO17