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Temperature dependence of Cav1.4 calcium channel gating. |
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These findings suggest that the pathology of CSNB-2 in patients with these missense mutations in the Ca(v)1.4 calcium channel is the result in either a gain of function (F742C) or a loss of function (G1007R, R1049W). |
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Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution |
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The clinical phenotype of R508Q and L1364H night blindness mutations is unlikely to be explained by changes in channel gating. Instead, these mutations affect the protein expression of Ca(v)1.4 Ca(2+) channels. |
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Our data provide unequivocal evidence that congenital stationary night blindness type 2 missense mutations can induce severe changes in Ca(v)1.4 function. |
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Introduction of base pair changes associated with four incomplete X-linked congenital night blindness mutations showed that only the G369D alteration affected channel activation properties. Ca(v)1.4 was found widely expressed outside the retina |
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The present study clearly indicates that AIED (Aland Island eye disease) is also caused by a novel CACNA1F gene mutation. |
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Novel nonsense mutation detected in exon 7 occurs after the predicted fifth transmembrane domain, deleting part of domain I and all of domains II, III,IV, the EF-hand motif and cytoplasmic C-terminus. |
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These findings indicate that a mutation of the CACNA1F gene may be associated with retinal and optic disc atrophy with a progressive decline of visual function. |
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In a pool of eight diagnosed XLCSNB (X-linked congenital stationary night blindness) patients, five showed a sequence variation in the CACNA1F and two in the NYX gene. |
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A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. |
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A novel mutation in the CACNA1F gene adds further support to the contention that CSNB2 represents a genetically distinct retinal disorder of a calcium channel. |
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X linked cone-rod dystrophy (CORDX3), is caused by a mutation in CACNA1F. |
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Molecular analyses, reported separately, identified a novel I745T CACNA1F mutation that was associated in vitro with major alterations in gating and kinetics of the Ca(v)1.4 channel. |
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comprehensive mutation analyses in the 48 CACNA1F exons in 36 families, most of them from Germany |
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Cav1.4 encodes a calcium channel with low open probability and unitary conductance |
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The biophysical and pharmacological properties of human retinal Cav1.4alpha1 using the whole-cell patch-clamp technique after heterologous expression in tsA-201 cells were compared with other L-type alpha1 subunits |
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18. |
L-type Ca2+ channel plays a significant role in the Ca2+ influx pathways mediating T lymphocyte activation and proliferation |