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This report gives further support that this novel RASopathy-PPP1CB (show PPP1CB Antibodies)-related Noonan syndrome with loose anagen hair-shares great similarity to Noonan syndrome-like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality.
Missense mutations in PPP1CB (show PPP1CB Antibodies) are associated with a phenotype resembling NS-LAH (show DSG4 Antibodies). Based on this phenotype and PPP1CB's known role within the RAS/MAPK (show MAPK1 Antibodies) pathway, we think that this condition is a novel rasopathy, which may be provisionally termed "PPP1CB (show PPP1CB Antibodies)-related Noonan syndrome with loose anagen hair" (P-NS-LAH (show DSG4 Antibodies)).
this study shows a pivotal role for PP1 (show PPA1 Antibodies) in impeding IRF7 (show IRF7 Antibodies)-mediated IFN-alpha (show IFNA Antibodies) production in host immune responses
Our data suggest that our heterozygous de novo PPP1CB (show PPP1CB Antibodies) pathogenic variants are associated with syndromic intellectual disability.
These results suggest a unique functional role for the PP1beta (show PPP1CB Antibodies) isoform in affecting cardiac contractile function
Findings show that PP1cbeta plays a role in endothelial cell migration through a mechanism involving the interplay of actin cytoskeleton proteins and focal adhesion molecules signaling.
PPP1C (show PPP1CA Antibodies) isoforms have distinct contribution to the outside-in alphaIIbbeta3 signalling-dependent functions in HEK293 alphaIIbbeta3 cells.
results indicate that SCN (show SRI Antibodies)-iPS (show SLC27A4 Antibodies) cells provide a useful disease model for SCN (show SRI Antibodies), and the activation of the Wnt3a (show WNT3A Antibodies)/beta-catenin (show CTNNB1 Antibodies) pathway may offer a novel therapy for SCN (show SRI Antibodies) with ELANE (show ELANE Antibodies) mutation
Studies suggest that any change in substrate specificity of the spinophilin (show PPP1R9B Antibodies) : PP1 (show PPA1 Antibodies) holoenzyme complex was probably due to direct modification of a PP1 (show PPA1 Antibodies) substrate binding surface.
Studies indicate that the diversity of the PP1 (show PPA1 Antibodies) interactome and the properties of the PP1 (show PPA1 Antibodies) binding code account for the exquisite specificity of PP1 (show PPA1 Antibodies) in vivo.
The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed.
protein phosphatase 1, catalytic subunit, beta isoform
, protein phosphatase 1, catalytic subunit, delta isoform
, protein phosphatase 1-beta
, protein phosphatase 1-delta
, serine/threonine protein phosphatase PP1-beta catalytic subunit
, serine/threonine-protein phosphatase PP1-beta catalytic subunit
, protein phosphatase-1a