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  • Influenza

    All problems (adverse events) related to a medicine or medical device used for treatment or in a procedure should be reported to the Medicines and Healthcare products Regulatory[] IL-1 receptor (IL-1R1).[] Like hemagglutinin and neuraminidase, the M2 protein is an integral membrane protein of the influenza A virus 4 , 5 .[] Baloxavir was associated with significantly more rapid declines in infectious viral load than placebo or oseltamivir ( Figure 3A and 3B ).[] Influenza subunit vaccine - ten years experience. Europ J Clin Res 1992; 3: 117-38. [ Links ] 3. Nichol KL, Lind A, Margokis KL, et al .[] The greatest problems for new and better vaccines appear to be associated with regulatory hurdles and the lack of an adequate market.[]

  • Spinocerebellar Ataxia Type 12

    […] presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory[] Brain. 2017 Jan;140(1):27-36. doi: 10.1093/brain/aww269. Epub 2016 Nov 17.[] […] spots, which were confirmed as nine proteins by LC-MS/MS.[] This hypothesis would predict that the mutation changes the regulation of protein phosphatase 2A, with implications for the phosphoproteome.[] Both methylated (n 19) and unmethylated (n 29) tumours showed significantly lower expression values compared to normal tissue (n 28, both P 0.001) (Figure 3B ), indicating[] SCA12 is linked to a CAG repeat expansion mutation in exon 7 of PPP2R2B, a gene that encodes Bβ, a regulatory subunit of protein phosphatase 2A (PP2A).[]

  • Carney Complex Type 1

    In CNC families mapping to 17q, we detected loss of heterozygosity (LOH) in the vicinity of the gene ( PRKAR1A ) encoding protein kinase A regulatory subunit 1-α (RIα), including[] Acronym CNC1 Synonyms CAR Carney complex, type 1 Carney myxoma-endocrine complex Carney syndrome LAMB syndrome Myxoma, spotty pigmentation, and endocrine overactivity NAME[] ) ARF : SAR1B ( Chylomicron retention disease ) ARL13B ( Joubert syndrome 8 ) · ARL6 ( Bardet–Biedl syndrome 3 ) MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase[] Alzheimer's disease 4 Alzheimer's disease 5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 3A amelogenesis imperfecta type 3B[] % Genes 100 % Carney complex, type 1.[] Similarly, as shown in Fig. 3B , patients who were older ( 65 years) at the time of ILD diagnosis had poorer survival than those who were younger ( 65 years) ( p 0.001, log-rank[]

  • Primary Pigmented Nodular Adrenocortical Disease

    An analysis of the patient and his mother's genomic DNA identified a novel mutation in the type Iα regulatory subunit of protein kinase A (PRKAR1A) gene; p.E17X (c.49G T).[] Transcript 1 ELENCO MALATTIE RARE ESENTATE DALLA PARTECIPAZIONE AL COSTO (Allegato 1 al decreto 18 maggio 2001, n. 279) 1.[] […] of Carney complex, a familial lentiginosis-multiple endocrine neoplasia syndrome frequently caused by mutations in PRKAR1A, which encodes the 1alpha regulatory subunit of protein[] PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. ‎[] This was accompanied by increases in the proapoptotic BH3-only proteins BIM and PUMA ( Figures 3b and c ).[] Genetically lean mice result from targeted disruption of the RIIb subunit of protein kinase A . Nature 382 , 622–626 (1996). 20. Amieux, P.S. et al .[]

  • Cantharidin

    […] drug effects T-Lymphocytes, Regulatory/immunology T-Lymphocytes, Regulatory/radiation effects Substances CTLA-4 Antigen Ctla4 protein, mouse Cantharidin[] Product name Cantharidin, Protein phosphatases 1 and 2A (PP1, PP2A) inhibitor Description Protein phosphatases 1 and 2A (PP1, PP2A) inhibitor Biological description Protein[] Its cytotoxicity is believed to be mediated by the inhibition of serine/threonine protein phosphatase 2A.[] The highest expression of HMGR was restricted to the female just after mating, with much lower expression levels on the other tested days ( Fig. 3B ). Fig. 3.[] […] α (IKKα) and NF‑κB inhibitor α (IκBα) in cells, and an increased NF‑κB p65 subunit level in the nucleus.[] […] cell-permeable, potent and specific inhibitor of serine/threonine protein phosphatases 1 2 and 2A 3 by competitively docking in the ligand binding site at the beta catalytic subunit[]

  • Lafora Disease

    Here we show that, in addition, laforin interacts with itself and with the glycogen targeting regulatory subunit R5 of protein phosphatase 1 (PP1).[] […] hit PTHR11697:SF49 PTHR11697:SF49, 1 hit Sequence (1 ) i Sequence status i : Complete.[] Laforin contains a dual specificity phosphatase domain and a carbohydrate-binding module, and is a member of the recently described family of glucan phosphatases.[] In fact, laforin is expected to have additional functional domains involved in the interaction with putative regulatory subunits or with the in vivo substrates.[] […] mutation databases PTM / Processing i Molecule processing Feature key Position(s) Description Actions Graphical view Length Chain i PRO_0000285927 1 – 317 Protein phosphatase 1 regulatory[] […] thioredoxin reductase 1; unfolded protein response [Indexed for MEDLINE] Free full text[]

    Missing: 3B
  • Glycogen Storage Disease

    These phenomena associated with reduced expression of the FOXP3 transcription factor, lower suppressive function in peripheral CD4 CD25 FOXP3 regulatory T cells, and an impaired[] Most patients showed depletion of glycogenin-1 in skeletal muscle, whereas 1 showed presence of glycogenin-1 lacking the C-terminal that normally binds glycogen synthase.[] AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b ([] Abstract Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia).[] The deficiency may occur in the liver and muscle (GSD 3a) or only in the liver (GSD 3b).[] , alpha 1 phosphorylase kinase, muscle, alpha-1 subunit phosphorylase kinase, alpha 1 (muscle) PHKA1 311870 8925 phosphorylase kinase regulatory subunit, alpha 2 phosphorylase[]

  • Carney Complex

    Carney complex (CNC) is a hereditary multiple neoplasia syndrome resulting from inactivating mutations of the gene encoding the PKA type I alpha regulatory subunit (PRKAR1A[] Acronym CNC1 Synonyms CAR Carney complex, type 1 Carney myxoma-endocrine complex Carney syndrome LAMB syndrome Myxoma, spotty pigmentation, and endocrine overactivity NAME[] PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. ‏[] To accomplish this goal, we introduced null alleles of the PKA catalytic subunits Prkaca (Ca) or Prkacb (Cb) into the Prkar1a-cardiac knockout (R1a-CKO) or limited Schwann[] BACKGROUND: Carney complex (CNC) is an autosomal dominant multiple neoplasia, caused mostly by inactivating mutations of the regulatory subunit 1A of the protein kinase A[] Abstract Carney Complex (CNC) and Multiple Endocrine Neoplasia type 1 (MEN1) are forms of multiple endocrine neoplasia of dominant autosomal inheritance.[]

    Missing: 3B
  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    […] kinase, alpha 2 (liver) PHKA2 PHK PYK 300798 8926 phosphorylase kinase regulatory subunit, beta phosphorylase kinase, beta PHKB 172490 8927 phosphorylase kinase regulatory[] In the past the prognosis for type 1 glycogen storage disease patients was poor.[] Identifiers for G6PC Gene GC17M040566 GC17P043214 GC17P040961 GC17P041425 GC17P038306 GC17P041052 GC17P036817 Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein[] Evidence for the involvement of a glucose-6-phosphate carrier in microsomal glucose-6-phosphatase activity. Eur. J.[] In the liver (e.g., GSD type 3b and 3d) this can result in hepatomegaly with the potential for cirrhosis.[] A failure of any of lites, ions, proteins, and signals across its bor der.[]

  • Diamond-Blackfan Anemia

    However, little is known about the global regulatory network as well as key miRNAs and gene pathways in the zebrafish model of DBA.[] We sequenced GATA-1 in 23 patients that were negative for mutations in the most frequently mutated DBA genes.[] , along with rarer abnormalities of additional ribosomal proteins.[] […] osteoblasts using 1,25-dihydroxy-vitamin D3, dexamethasone, ascorbic acid and β-glycerophosphate for 10 days. qRT-PCR and histologic stains (alizarin red, alcian blue and alkaline phosphatase[] The E2 transcript, although not characterized in this study, is also likely to be non-functional because splicing of E2 creates a premature termination codon ( Figure 3B )[] Small ribosomal subunit genes RPS19, RPS24, and RPS17 are mutated in approximately one-third of patients.[]