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BEST1 encodes a member of the bestrophin gene family. Zusätzlich bieten wir Ihnen Bestrophin 1 Antikörper (30) und Bestrophin 1 Proteine (10) und viele weitere Produktgruppen zu diesem Protein an.
Bestrophin 1 (dBest1) as the Drosophila Cl(swell) channel
bestrophin-1 chloride current is dually regulated by calcium and cell volume
We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the autosomal recessive bestrophinopathy phenotype.
The findings in this family emphasize the previously noted variability of clinical manifestations in BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) and the relevance of FAF and NIA imaging. Cystoid macular edema and vascular leakage can be successfully treated using dorzolamide.
For patients with Best vitelliform macular dystrophy, single heterozygous BEST1 mutations were identified in 13 patients and compound heterozygous mutations were found in 3 patients. For patients with autosomal recessive bestrophinopathy, biallelic mutations were found in 13 probands and single mutant alleles in six patients. Overall, 36 disease-causing variants (20 novel mutations) of the BEST1 gene were identified.
Mutation in BEST1 has variable penetrance and expressivity, and can be uniocular.
We identified 7 BEST1 variants, 2 of which were new in 9 cases of Japanese patients with autosomal recessive bestrophinopathy.
Of the 225 genetic tests performed, 150 were for recessive IRD (zeige SCRIB ELISA Kits), and 75 were for dominant IRD (zeige SCRIB ELISA Kits). A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD (zeige SCRIB ELISA Kits) and 19 (26%) probands with dominant IRD (zeige SCRIB ELISA Kits). Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (zeige ABCA4 ELISA Kits) (14), BEST1 (2), PRPH2 (zeige PRPH2 ELISA Kits) (1), and TIMP3 (zeige TIMP3 ELISA Kits)
We describe the atypical phenotype and high intrafamilial variability associated with a new mutation in the BEST1 gene in an Italian family affected with Best vitelliform macular dystrophy.
A clinical picture similar to autosomal recessive bestrophinopathy can also be caused by a single heterozygous mutation in the BEST1 gene, such as the c.614T>C (p.I205T) variant in this family.
The secondary structure of Best1 and the effect of calcium have been described.
BVMD could present with other ocular disorders such as ACG and FCE (zeige FECH ELISA Kits). We also found 2 novel disease-causing mutations (p.Thr307Asp, p.Arg47His) of the BEST1 gene, one of which (p.Arg47His) has also been reported in adult-onset vitelliform macular dystrophy (AVMD (zeige PRPH2 ELISA Kits))
Data suggest that the ion channels CaV1.3, bestrophin-1 and maxiK were identified as players in the regulation of photoreceptor outer segments (POS) phagocytosis by the retinal pigment epithelium (RPE).
Best1-mediated astrocytic glutamate (zeige GRIN1 ELISA Kits) activates the synaptic N-methyl-D-aspartate receptor (zeige GRIN1 ELISA Kits) (NMDAR (zeige GRIN1 ELISA Kits)) and modulates NMDAR (zeige GRIN1 ELISA Kits)-dependent synaptic plasticity.
Bestrophin-1 functions as an intracellular Cl channel which helps to accumulate and to release Ca(2 (zeige CA2 ELISA Kits)+) from stores by conducting the counterion for Ca(2 (zeige CA2 ELISA Kits)+).
Best1, located at the microdomains near the synaptic junctions, has a significantly high permeability to glutamate (zeige GRIN1 ELISA Kits) in vivo.
Results show that different mutations in Best1 cause differential effects on its localization and that this effect varies with the presence or absence of wild-type (WT) Best1.
Astrocytic glutamate (zeige GRIN1 ELISA Kits) via Best1 channel targets and activates synaptic NMDA receptors.
Upon activation of protease activated receptor 1 (PAR1 (zeige F2R ELISA Kits)), an increase in intracellular Ca2 (zeige CA2 ELISA Kits)+ concentration leads to an opening of Best1 channels and subsequent release of glutamate (zeige GRIN1 ELISA Kits) in cultured astrocytes.
Ultrastructural analyses demonstrate that TREK-1 (zeige KCNK2 ELISA Kits) is preferentially localized at cell body and processes, whereas Best1 is mostly found in microdomains of astrocytes near synapses.
study reports that tonic inhibition in the cerebellum is due to GABA being released from glial cells by permeation through the Bestrophin 1 anion channel
SOX9 (zeige SOX9 ELISA Kits), through interaction with microphthalmia-associated transcription factor (MITF (zeige MITF ELISA Kits)) and OTX2 (zeige OTX2 ELISA Kits), regulates BEST1 expression in the retinal pigment epithelium.
Bestrophin-1 knock-down increases phagocytosis in primary porcine RPE cells.
Retinal pigment epithelium bestrophin-1 possibly conducts Cl(-) as counter ion for Ca(2 (zeige CA2 ELISA Kits)+) uptake into cytosolic Ca(2 (zeige CA2 ELISA Kits)+) stores.
examined the quaternary structure of native best-1 and found that it migrates as a single species with a Stokes radius of 7.3 nm, sedimentation coefficient (S20 (zeige RPS20 ELISA Kits),w) of 4.9, and partial specific volume (nu) of 0.80 ml/g
This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.
, bestrophin 1
, Bestrophin 1
, Best disease
, vitelliform macular dystrophy protein 2
, best macular dystrophy
, vitelliform macular dystrophy 2 homolog
, vitelliform macular dystrophy protein 2 homolog
, vitelliform macular dystrophy (Best disease, bestrophin)