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This report gives further support that this novel RASopathy-PPP1CB-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 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-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 pathogenic variants are associated with syndromic intellectual disability.
These results suggest a unique functional role for the PP1beta 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 : PP1 holoenzyme complex was probably due to direct modification of a PP1 substrate binding surface.
Studies indicate that the diversity of the PP1 interactome and the properties of the PP1 binding code account for the exquisite specificity of PP1 in vivo.
PPP1CB is a novel adipogenic activator that promotes adipogenesis in vivo and in vitro.
Ppm1b (show PPM1B Antibodies) negatively regulates necroptosis through dephosphorylating Rip3 (show MPRIP Antibodies) in vitro and in vivo.
the phosphatase PPM1B (show PPM1B Antibodies) as a novel selective modulator of PPARgamma (show PPARG Antibodies) activity.
Although a non-myristoylated mutation (G2A (show GPR132 Antibodies)) of PPM1A (show PPM1A Antibodies) and PPM1B (show PPM1B Antibodies) prevented membrane association, this relocalization did not likely cause the decreased activity towards AMPKalpha (show GRK4 Antibodies).
These observations suggest that relatively high PP2Cbeta (show PPM1B Antibodies) expression is specifically required during the early stages of pre-implantation development.
PP-1 is more abundant than PP-2A in the mouse eye; the genes encoding PP-1alpha/beta, PP-2Aalpha/beta, PP-2A-Aalpha/beta, and PP-2A-Balpha/beta/gamma are all differentially expressed.
cloning and expression profile of PPP1CB; part of the genomic sequence and polymorphisms were cloned and characterized
zebrafish have two genes encoding PP1beta, both of which can interact with Mypt1 (show PPP1R12A Antibodies)
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 1, catalytic subunit,, delta (gizzard)
, protein phosphatase-1 delta
, protein phosphatase type 1 beta isoform
, protein phosphatase type 1 catalytic subunit delta isoform
, protein phosphatase 1B
, protein phosphatase 2C isoform beta
, protein phosphatase-1a