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Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. De plus, nous expédions KCNV2 Protéines (4) et beaucoup plus de produits pour cette protéine.
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Pharmacogenetic and case-control study evaluated the role of the variants of KCNA1 (Montrer KCNA1 Anticorps), KCNA2 (Montrer KCNA2 Anticorps), and KCNV2 in the susceptibility and drug resistance of genetic generalized epilepsies and revealed no significant association between 8 variants of KCNA1 (Montrer KCNA1 Anticorps), KCNA2 (Montrer KCNA2 Anticorps), and KCNV2 genes and risk or drug resistance of genetic generalized epilepsies after a Bonferroni correction for multiple comparisons.
This is the first report of genetic and clinical analysis of cone dystrophy with supernormal rod response in the Israeli population leading to the identification of 4 novel KCNV2 mutations.
Compound heterozygosity for the two alleles of KCNV2, p.C177R and p.G461R, in three patients, and homozygosity for complex alleles, p.R27H and p.R206P, in one patient from the consanguineous family, is reported.
Central vision parameters progressively worsen in KCNV2 cone dystrophy, structural retinal and lipofuscin accumulation abnormalities are commonly present and macular cone photoreceptor mosaic is markedly disrupted early in the disease.
KCNV2 mutations cause a unique form of retinal disorder illustrating the importance of K(+)-channels for the resting potential, activation and deactivation of photoreceptors, while phototransduction remains unchanged
important finding leading to identification of KCNV2 as a candidate gene for causative mutations was the characteristic pattern of findings on full field ERGs.
two pore mutations (W467G and G478R) led to the formation of nonconducting heteromeric Kv2.1 (Montrer KCNB1 Anticorps)/Kv8.2 channels
For all patients, KCNV2 sequencing revealed one of three homozygous recessive mutations
In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3%) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunctino.
In KCNV2 retinopathy foveal morphological changes are evident on SD-OCT (Montrer Plxna2 Anticorps) even in the early stages of disease.
We conclude that nucleotide changes in evolutionary conserved crx (Montrer CRX Anticorps) binding site could impact retina-specific expression levels of Kcnv2.
Results demonstrate that altered potassium subunit function influences epilepsy susceptibility and implicate Kcnv2 as an epilepsy gene.
Data show that total Kv11.1 alpha subunit (Montrer POLG Anticorps) protein is more abundant in neonatal heart and is distributed throughout both adult and neonatal ventricles with greater abundance in epicardia.
Kcnv2 is a strong functional candidate for epilepsy modifier.
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues.
potassium voltage-gated channel subfamily V member 2
, voltage-gated potassium channel subunit Kv8.2