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Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees.
Next-generation whole exome sequencing revealed a homozygous c.1923_1969ins6del47 nonsense PDE6B mutation, which has not been previously described, that segregated with the disease in the family.
The family was found to segregate novel mutations of two different genes: myosin VIIA (MYO7A), and phosphodiesterase 6B, which causes nonsyndromic retinitis pigmentosa.
analysis of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 (show PDE5A Proteins) and PDE6
The p.H557Y mutation in PDE6B, was homozygous in four patients and heterozygous in nine patients, and it was the most frequent mutation (2.5%) in Korean patients with retinitis pigmentosa.
Data indicate the upregulation of RREB1, PDE6B, and CD209 (show CD209 Proteins) suggests that these proteins might play important roles in the differentiation of primitive gut (show GUSB Proteins) tube cells from embryonic stem cells (hESCs) and in primitive gut (show GUSB Proteins) tube development into pancreas.
Mutations have been identified in the beta-subunit (show POLG Proteins) of rod phosphodiesterase in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.
Rod phosphodiesterase-6 PDE6A (show PDE6A Proteins) and PDE6B subunits are enzymatically equivalent.
Sp4 is a strong activator of transcription (show STAT1 Proteins) from the beta-PDE (show ALDH7A1 Proteins) promoter
the rod cGMP-phosphodiesterase beta-subunit gene is transcriptionally and post-transcriptionally regulated [review]
demonstrated a substantial difference in the speed of retinal degeneration and accompanying loss of visual function between two rd1 lines
transient and Pde6-independent Ca(2 (show CA2 Proteins)+) elevations ('flashes') were detected throughout the inner segment and the synapse.
Polyglutamine expansion AR sequesters PTIP (show PAXIP1 Proteins) to attenuate DNA repair and increase genomic instability.
There are distinct changes that occur in the morphology of retinal pigment epithelium cells in response to retinal degeneration in rd10 mice.
that effective knockdown of GUCY2E and CNGA1 (show CNGA1 Proteins) expression to counteract loss of PDE6 function may develop into a valuable approach for treating some patients with RP.
NC/Tnd mice also preserve the Pde6b(rd1) gene mutation resulting in the rapid postnatal retinal degeneration similar to that in C3H/HeN (show RPS6 Proteins) mice.
Results describe the progression of neuronal remodeling of second- and third-order retinal cells and their synaptic terminals in retinas from Pde6b knockout mice at varying stages of degeneration.
the degeneration of rd1 mouse retina is rescued by antioxidants and involves thiol-dependent metabolism
The differential activation of Akt (show AKT1 Proteins) was studied in the photorceptors of normal and rd1 mice.
These data demonstrate a correlation between genotype and phenotype. Four of the mutants with severe genetic lesions have rapid onset of retinal degeneration, as determined by fundus examination. These mice were indistinguishable from Pde6b(rd1) mice.
Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene.
, rod cGMP-phosphodiesterase beta-subunit
, rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
, pde6B gene for cGMP phosphodiesterase beta subunit
, phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)
, rod cGMP phosphodiesterase beta subunit
, phosphodiesterase, cyclic GMP ( rod receptor), beta polypeptide
, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
, cGMP-phosphodiesterase beta-subunit
, phosphodiesterase, cGMP, rod receptor, beta polypeptide
, retinal degeneration 1