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6,601 Possible Causes for 2,, B,, delta, human, isoform, phosphatase, protein, protein,, regulatory, subunit

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  • Influenza

    Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug, 2,6-diamino-purine-2'-fluororiboside[ncbi.nlm.nih.gov] Rimmelzwaan 1 , B. E. E. Martina 2 , T. M. Bestebroer 1 , R. A. M.[doi.org] Like hemagglutinin and neuraminidase, the M2 protein is an integral membrane protein of the influenza A virus 4 , 5 .[doi.org] 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[guidance.nice.org.uk] But the tragedy of the disease is most evident in the Nile Delta region north of Cairo, the nation's breadbasket and now an incubator of fear and bird flu.[nytimes.com] Influenza subunit vaccine - ten years experience. Europ J Clin Res 1992; 3: 117-38. [ Links ] 3. Nichol KL, Lind A, Margokis KL, et al .[scielo.org.ar] The rapid evolution of influenza A and B viruses contributes to annual influenza epidemics in humans.[ncbi.nlm.nih.gov] This entry describes 2 isoforms i produced by ribosomal frameshifting .[uniprot.org] DOI: 10.1128/AAC.38.8.1864 ABSTRACT Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug[doi.org]

  • Phosphorylase Kinase Deficiency

    Column 2: 5ml HiTrap S Column 2 Buffers : Buffer A: 25 mM HEPES, pH 7.0; 200 mM NaCl; 0.5 mM TCEP. Buffer B: 25 mM HEPES, pH 7.0; 2 mM NaCl; 0.5 mM TCEP.[thesgc.org] […] phos·phor·y·lase b ki·nase de·fi·cien·cy/ an X-linked disorder of glycogen storage due to deficiency of the enzyme in the liver, characterized in affected males by hepatomegaly[medical-dictionary.thefreedictionary.com] The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic[ncbi.nlm.nih.gov] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[uniprot.org] PHK consists of four different subunits, alpha, beta, gamma, and delta.[ncbi.nlm.nih.gov] […] storage diseases such as GSD due to liver phosphorylase deficiency (GSD type VI), GSD due to glycogen debranching enzyme deficiency (GSD type III), and GSD due to glucose-6-phosphatase[orpha.net] The complete coding sequences of the liver gamma subunit and of the beta subunit of phosphorylase kinase of the proband were analyzed for the presence of mutations, by either[ncbi.nlm.nih.gov] To our knowledge, this is the first description of a human Phk deficiency mutation.[ncbi.nlm.nih.gov] Phosphorylase b kinase turns on (activates) the enzyme that breaks down glycogen.[ghr.nlm.nih.gov]

  • Spinocerebellar Ataxia Type 12

    Postepy Biochem. 2005;51(2):215-22. Chai Y, Wu L, Griffin JD, Paulson HL.[bvs.sld.cu] Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa[uniprot.org] […] spots, which were confirmed as nine proteins by LC-MS/MS.[ncbi.nlm.nih.gov] […] presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory[ncbi.nlm.nih.gov] (C) Seven interruption alleles were observed based on the number of ATTCT repeats observed within each polymorphic stretch (alpha, beta, gamma, delta, epsilon, zeta and eta[journals.plos.org] This hypothesis would predict that the mutation changes the regulation of protein phosphatase 2A, with implications for the phosphoproteome.[ncbi.nlm.nih.gov] Product name Recombinant Human PPP2R2B protein Protein length Full length protein Nature Recombinant Source Wheat germ Amino Acid Sequence Accession Species Human Sequence[abcam.com] 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).[ncbi.nlm.nih.gov] […] process protein phosphatase regulator activity regulation of phosphoprotein phosphatase activity peptidyl-serine dephosphorylation Ontology : EGO-EBI protein phosphatase[atlasgeneticsoncology.org]

  • Lafora Disease

    Epilepsy, Progressive Myoclonic, 2A PME type 2 EPM2 Progressive myoclonic epilepsy type 2 Lafora Disease Epilepsy progressive myoclonic 2 Lafora body disorder Lafora Body[wikidata.org] In contrast to essential hemeralopia, where the b-wave is completely lacking a gradual recovery of the b-wave was recorded in Lafora disease.[ncbi.nlm.nih.gov] Binary interactions i GO - Molecular function i identical protein binding Protein-protein interaction databases Structure i 3D structure databases Family & Domains i Phylogenomic[expasy.org] Here we show that, in addition, laforin interacts with itself and with the glycogen targeting regulatory subunit R5 of protein phosphatase 1 (PP1).[ncbi.nlm.nih.gov] KEYWORDS: EEG; Lafora disease; Progressive myoclonic epilepsy; autoimmune encephalitis; epilepsy; extreme delta brush[ncbi.nlm.nih.gov] Laforin contains a dual specificity phosphatase domain and a carbohydrate-binding module, and is a member of the recently described family of glucan phosphatases.[ncbi.nlm.nih.gov] We have developed a human LD mutation database using a new generic biological database cross‐referencing platform.[doi.org] Active phosphatase isoform 7 and isoform 1 interact with each other, but give rise to lower phosphatase activity than isoform 1 or isoform 7 by themselves (in vitro) (PubMed[expasy.org] E., Anta, B., de Bernabe, D. B., Lindhout, D., Augustijn, P. B., Tassinari, C. A., Malafosse, R. M., Topcu, M., et al. ( 1999 ) Hum. Mol.[doi.org]

  • Hepatitis D Virus

    HBVpreS/2-48( d -11/13-15) stearoyl and HBVpreS/2-48( d -11/13) stearoyl (B), or HBVpreS/2-48(L11R) stearoyl , HBVpreS/2-48(G12E) stearoyl , and HBVpreS/2-48(F13S) stearoyl[doi.org] The serum Hepatitis B envelope antigen level was negative in all patients.[ncbi.nlm.nih.gov] The M protein includes the pre-S2 and S regions, whereas the S protein consists of the S domain only.[doi.org] Circulating and liver resident CD4 CD25 regulatory T cells actively influence the antiviral immune response and disease progression in patients with hepatitis B. J.[genscript.com] Description The Hepatitis delta virus (HDV) encodes a single protein, the hepatitis delta antigen (HDAg).[ebi.ac.uk] […] effects and symptoms, undergo focused physical examination, and have blood drawn for complete blood counts, HDV RNA, and routine liver tests (including ALT, AST, alkaline phosphatase[clinicaltrials.gov] RNA product is highly sensitive to α-amanitin in HeLa NE and only partially sensitive to this drug in NE from PMG cells that contain an allele of the α-amanitin-resistant subunit[doi.org] Abstract Human hepatitis delta (δ) virus (HDV) is a form of defective virus, which infects humans only in the presence of a co-infecting hepatitis B virus (HBV), HDV superinfection[doi.org] Both isoforms are produced from the same reading frame which contains an UAG stop codon at codon 196, which normally produces only the small-HDAg.[en.wikipedia.org]

  • LIG4 Syndrome

    […] as seckel-type dwarfism 2, microcephalic primordial dwarfism 2.[mendelian.co] We report here on a case of LIG4 syndrome complicated with distinct EBV-associated B-cell lymphoma.[ncbi.nlm.nih.gov] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[mcb.asm.org] Zebrafish have p53, p63 and p73 genes, as well as the regulatory mdm2 and mdm4 genes (Lu and Abrams, 2006).[zdoc.site] Journal of Clinical Investigation 102 , 312 - 321 57 Ehl , S. et al. ( 2005 ) A variant of SCID with specific immune responses and predominance of gamma delta T cells .[cambridge.org] Mikio Shimada, Lavinia C Dumitrache, Helen R Russell and Peter J McKinnon , Polynucleotide kinase–phosphatase enables neurogenesis via multiple DNA repair pathways to maintain[doi.org] Epub 2004 Jun 11. 2004 23XRCC6, LIG4, PRKDC, XRCC4, XRCC5 Coordinated assembly of Ku and p460 subunits of the DNA-dependent protein kinase on DNA ends is necessary for XRCC4[genatlas.medecine.univ-paris5.fr] PAGES GENES INVOLVED Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID LIG4 lig4 LIG4 syndrome 606593 ZEBRAFISH MODELS No data available PHENOTYPE No data available[zfin.org] This entry has 1 described isoform and 1 potential isoform that is computationally mapped.[uniprot.org]

  • Hepatitis D

    1 in group 2) to receive lonafarnib 100 mg (group 1) or lonafarnib 200 mg (group 2) twice daily for 28 days with 6 months' follow-up.[ncbi.nlm.nih.gov] . — It is transmitted by blood from people already infected with hepatitis B. — Preventing hepatitis B, especially vaccination, will prevent HDV. — There is currently no effective[hepb.org] The M protein includes the pre-S2 and S regions, whereas the S protein consists of the S domain only.[doi.org] Circulating and liver resident CD4 CD25 regulatory T cells actively influence the antiviral immune response and disease progression in patients with hepatitis B. J.[genscript.com] […] viral polypeptides p27 delta and p24 delta and probably represents the complete structural gene for p27 delta and p24 delta.[ncbi.nlm.nih.gov] […] effects and symptoms, undergo focused physical examination, and have blood drawn for complete blood counts, HDV RNA, and routine liver tests (including ALT, AST, alkaline phosphatase[clinicaltrials.gov] […] product is highly sensitive to alpha-amanitin in HeLa NE and only partially sensitive to this drug in NE from PMG cells that contain an allele of the alpha-amanitin-resistant subunit[ncbi.nlm.nih.gov] Human hepatitis delta (delta) virus (HDV) is a form of defective virus, which infects humans only in the presence of a co-infecting hepatitis B virus (HBV).[ncbi.nlm.nih.gov] The N-terminals of the two forms are identical, they differ by 19 more amino acids in the C-terminal of the large HDAg. [18] Both isoforms are produced from the same reading[pfam.xfam.org]

  • Interleukin-2

    […] low dose rIL-2.[doi.org] The results showed that DSP30/IL2 was an effective mitogen in mature B-cell disorders, revealing abnormal cytogenetic results in a range of B-cell malignancies.[ncbi.nlm.nih.gov] Search results for IL2 Gene & protein summaries for IL2 Gene summary for IL2 Gene & protein summary for IL2 ORGANISMS human Homo sapiens human Homo sapiens house mouse Mus[ebi.ac.uk] This synergistic effect was stopped by CD4 CD25 regulatory T cells (Treg), which depleted IL-2 in a cell number-dependent manner.[ncbi.nlm.nih.gov] -6, IL-7, IL-8, IL-9, IL-10, IL-11, IL-12 p70, IL-12 p40, IL-13, IL-15, I-309, IP-10, G-CSF, GM-CSF, IFN-gamma, MCP- 1, MCP-2, MCP-3, MDC, MIP-1 alpha, MIP-1 beta, MIP-1 delta[raybiotech.com] Increased phosphorylation of VE-cadherin was also accompanied by a reduction of Src homology 2 domain-containing protein-tyrosine phosphatase 2, known to maintain vascular[ncbi.nlm.nih.gov] Interleukin-2 (IL-2) is an immunoregulatory cytokine that binds sequentially to the alpha (IL-2Ralpha), beta (IL-2Rbeta), and common gamma chain (gammac) receptor subunits[rcsb.org] Technical specifications of human IL2 kit Sample size 16 µL Final assay volume 20 µL Kit components Lyophilized standard, frozen detection antibodies, buffers &protocol.[cisbio.com] GENCODE basic PRINCIPAL1 - APPRIS candidate principal isoform.[ensembl.org]

  • X-Linked Severe Combined Immunodeficiency

    Diagnosis of X-SCID was established by DNA analysis of the interleukin (IL)-2 receptor gamma chain gene; namely, we detected the novel mutation within exon 2 (221 C-- A),[ncbi.nlm.nih.gov] CD27 is a marker of memory B cells.[ncbi.nlm.nih.gov] This case raises the question of how a dysfunctional protein incapable of mediating STAT5 phosphorylation might nonetheless support T-cell development.[ncbi.nlm.nih.gov] Vectors incorporating an internal human elongation factor-1alpha regulatory element were capable of fully restoring the lymphoid differentiation potential of gammac-deficient[ncbi.nlm.nih.gov] It is useful to consider the relationship between the existence of gamma delta T cells and BCG in this case, and it is suggested that gamma delta T cells may be, in a given[ncbi.nlm.nih.gov] Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat. Med. 2000. 6 :343-345. Dadi, HK, Simon, AJ, Roifman, CM.[doi.org] Abstract Genetic evidence suggests that mutations in the gamma(c) receptor subunit cause X-linked severe combined immunodeficiency (X-SCID).[ncbi.nlm.nih.gov] In humans, SCID is most commonly caused by mutations in the X-linked gene IL2RG, which encodes the common gamma chain, gamma c, of the leukocyte receptors for interleukin-[ncbi.nlm.nih.gov] CD3 T cells after transplantation expressed the CD45RA isoform indicating that the cells were recent thymic emigrants derived from immature progenitors.[ncbi.nlm.nih.gov]

  • Bacillus Thuringiensis

    Thus, parasporin-2 acts as a cytolysin that permeabilizes the plasma membrane with target cell specificity and subsequently induces cell decay.[ncbi.nlm.nih.gov] B. weihenstephanensis , B. mycoides , B. pseudomycoides , B. cytotoxicus and B. toyonensis .[efsa.europa.eu] protein.[ncbi.nlm.nih.gov] Louis MO USA Summary of Regulatory Approvals Click on the country name for country-specific contact and regulatory information.[web.archive.org] The delta-endotoxins of subsp. israelensis include three Cyt species: a major Cyt1Aa and two minor proteins, Cyt2Ba and Cyt1Ca.[ncbi.nlm.nih.gov] Various proteins such as cadherin, aminopeptidase-N (APN) and alkaline phosphatase (ALP) have been characterized as potential Cry-receptors.[ncbi.nlm.nih.gov] Structural determinants for activation of the α-subunit of a heterotrimeric G protein. Nature 369 , 621–628 (1997). 38 Kraulis, P.J.[doi.org] The activated parasporin showed strong cytocidal activity against human leukemic T cells (MOLT-4) and human uterus cervix cancer cells (HeLa) but not against normal T cells[ncbi.nlm.nih.gov] It was thus proposed that the 96-kDa protein was a novel isoform of class 3 APN. (vii) Summary.[doi.org]