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The c.1618G>A, p.Gly540Ser substitution in CNGA3 was identified as the causative mutation for a novel form of ACHM in Awassi sheep. Gene augmentation therapy restored vision in the affected sheep. This novel mutation provides a large-animal model that is valid for most human CNGA3 ACHM patients; the majority of them carry missense rather than premature-termination mutations.
Four mutations (c.1682G>A;p.G561E, c.139C>T;p.Q47*, c.784G>C;p.A282P, c.1116delC;p.V373*) represent novel mutations of CNGA3 reported herein for the first time in patients with Achromatopsia.
The two novel mutations found in the CNGA3 gene, c.997_998delGA and p.M424V, can cause complete achromatopsia. The vision of the patient was stationary until the third decade of life although the FAF (Montrer FANCF Anticorps) was altered at the age of 22 years.
The c.955T>C change identified in large consanguineous Pakistani family represents the first variant of CNGA3 which was found to be responsible for the cone-rod dystrophy phenotype.
Among Israeli and Palestinian patients, CNGA3 mutations are the leading cause of achromatopsia. Retinal structural results support the candidacy of CNGA3 ACHM for clinical trials for therapy of cone photoreceptors.
CNGA3 mutation is the most frequent cause of achromatopsia in this cohort of patients. Ten novel mutations were identified in CNGA3.
Our results suggest that CNGA3 mutations are a common cause of cone-rod dystrophies and achromatopsia in the Chinese population.
Genetic testing revealed a common homozygous mutation in CNGB3 (Montrer CNGB3 Anticorps) in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia.
CNGA3 alternative splicing may have evolved, in part, to tune the interactions between cone CNG (Montrer CNGA1 Anticorps) channels and membrane-bound phosphoinositides.
The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (Montrer CNGB3 Anticorps) (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R).
AAV8 with capsid Y-F and T-V mutations may be one of the most effective AAV vectors for long-term treatment in a naturally occurring mouse model of CNGA3 achromatopsia
CNGA3 expression restored cone function in in CNGA3-/-/Nrl (Montrer NRL Anticorps)-/- mice, an all-cone model of CNGA3 achromatopsia.
cGMP/protein kinase (Montrer CDK7 Anticorps) G signaling suppresses Itpr1 (Montrer ITPR1 Anticorps) phosphorylation and promotes endoplasmic reticulum stress in photoreceptors of Cnga3-deficient mice.
Homologous to the human disease, CNGA3 deficient mice reveal a loss of cone specific functionality leading to degeneration of affected cone photoreceptors. (review)
This work investigated the functional modulation of cone CNG (Montrer CNGA1 Anticorps) channel by exploring the channel-interacting proteins.
The results of this study indicated that cGMP accumulation in photoreceptors can itself exert cytotoxic effect in cones, independently of CNG (Montrer CNGA1 Anticorps) channel activity and Ca(2 (Montrer CA2 Anticorps)+) influx.
observed a nuclear translocation of apoptosis-inducing factor (AIF (Montrer AIFM1 Anticorps)) and endonuclease G (Montrer ENDOG Anticorps) in CNGA3(-/-)/Nrl (Montrer NRL Anticorps)(-/-) and CNGB3 (Montrer CNGB3 Anticorps)(-/-)/Nrl (Montrer NRL Anticorps)(-/-) retinas, implying a mitochondrial insult in the endoplasmic reticulum stress-activated cell death process
Pull-down assays indicated that the binding to organ of Corti CNGA3 was attributable to the EMILIN1 (Montrer EMILIN1 Anticorps) intracellular sequence that follows a predicted transmembrane domain in the C-terminus
Cone CNG (Montrer CNGA1 Anticorps) channel is a heterotetrameric complex likely at a stoichiometry of three CNGA3 and one CNGB3 (Montrer CNGB3 Anticorps).
This study provided evidence that CNGA3 contributes in an inhibitory manner to the central sensitization of pain pathways during inflammatory pain as a target of NO/cGMP signaling.
the S4 structural motif of CNGA3 is important for cellular processing of cone photoreceptor cyclic GMP (Montrer NT5C2 Anticorps)-gated ion channels
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described.
CNG channel alpha-3
, cone photoreceptor cGMP-gated channel alpha subunit
, cone photoreceptor cGMP-gated channel subunit alpha
, cyclic nucleotide-gated cation channel alpha-3
, cyclic nucleotide-gated channel alpha-3
, cyclic nucleotide-gated channel cone photoreceptor subunit alpha
, CNG channel 1
, alpha subunit of cone photoreceptor CNG-channel
, cyclic nucleotide gated channel alpha 3
, cyclic nucleotide gated channel alpha 3 protein
, cyclic nucleotide-gated cation channel alpha-3-like