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Here, we present the first case of RP45 caused by an unequivocal homozygous nonsense variant of CNGB1 identified by run of homozygosity (ROH) analysis.
Helios, and not FoxP3, is the marker of activated Tregs expressing GARP/LAP, and FoxP3+Helios+ Tregs have more suppressive characteristics, compared with FoxP3+Helios- Tregs.
GARP2 expression in cones can be detrimental to cones. RDS/GARP interactions remain under investigation but are critical for both OS structure and function.
The p.Arg86Gln mutation actually appears to be a polymorphism common in ethnic West Africans and not associated with RP. This change may provide a useful marker for West African ancestry.
Deletion of the cyclic nucleotide gated channel CNGB1 alters response waveform but leaves light adaptation intact in a transgenic model.
When expressed in a heterologous expression system the corresponding mutant full-length CNGB1a subunit was more susceptible to proteosomal degradation compared to the wild-type counterpart
we report targeting of cyclic nucleotide-gated channel(CNG) to rod outer segment required interaction with ankyrin-G; ankyrin-G localized to rod outer segments, coimmunoprecipitated with CNG channel & bound to C-terminal domain of channel beta1 subunit
Three CNGA1 subunits and a single CNGB1 subunit form the rod cyclic nucleotide-gated ion channels.
Glutamic acid-rich proteins could provide the environment needed for protein interactions in the rim region of optic discs.
Results suggest a novel role for glutamic acid-rich protein-2 as a regulator of spontaneous activation of rod photoreceptor phosphodiesterase, allowing rods to operate at the single photon detection limit.
Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP. Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit.
CNG channel beta-1
, cyclic nucleotide-gated cation channel 4
, cyclic nucleotide-gated cation channel beta-1
, cyclic nucleotide-gated cation channel gamma
, cyclic nucleotide-gated cation channel modulatory subunit
, cyclic nucleotide-gated channel beta-1
, glutamic acid-rich protein
, glutamic-acid-rich protein
, cyclic nucleotide-gated channel beta subunit 1
, 240 kDa protein of rod photoreceptor CNG-channel
, CNG channel 4
, cDNA sequence BC016201
, cyclic nucleotide gated channel beta 1
, cyclic nucleotide-gated cation channel beta-1-like