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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.
Selective up-regulation of PDE1B2 upon monocyte-to-macrophage differentiation.
PDE1B2 regulates a subset of phenotypic changes that occur upon phorbol-12-myristate-13-acetate-induced differentiation and likely also plays a role in differentiated macrophages by regulating agonist-stimulated cGMP levels
The PDE1B gene is a candidate gene for carcass traits of beef cattle.
The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
63 kDa Cam-PDE
, calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B
, cam-PDE 1B
, phosphodiesterase 1B, Ca2+-calmodulin dependent, 63 kDa
, phosphodiesterase 1B1, Ca2+-calmodulin dependent, 63 kDa
, calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase
, calmodulin-stimulated phosphodiesterase PDE1B1
, presumed 63kDa form of the type 1 cyclic nucleotide phosphodiesterase family known as PDE1B
, anti-oxidant protein 2
, cyclic nucleotide phosphodiesterase (CaM-PDE)
, phosphodiesterase 1B, Ca2+calmodulin dependent
, phosphodiesterase 1B1 Ca2+-calmodulin dependent 63 kDa
, phosphodiesterase IB calmodulin-dependent