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4,060 Possible Causes for (B56),, 2,, Allele, B, Delta, Isoform, Phosphatase, Protein, Regulatory, Subunit, wt

Did you mean: (B56), 2, Allele, B, death, Isoform, Phosphatase, proteus, Regulatory, Subunit, wt

  • Spinocerebellar Ataxia Type 12

    Table 2: Ayurvedic treatment given to a case of spinocerebellar ataxia-2 Click here to view Table 3: Panchakarma procedures adopted in a case of spinocerebellar ataxia-2 Click[ancientscienceoflife.org] Normal CACNA1A alleles contain 18 or fewer CAG repeats [ 10 ] and full penetrance pathogenic alleles contain 20 to 33 CAG repeats [ 11 , 12 ].[omicsonline.org] 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] (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] […] 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] McCright B, Rivers AM, Audlin S, Virshup DM: The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target[karger.com] This hypothesis would predict that the mutation changes the regulation of protein phosphatase 2A, with implications for the phosphoproteome.[ncbi.nlm.nih.gov] […] spots, which were confirmed as nine proteins by LC-MS/MS.[ncbi.nlm.nih.gov] 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] 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]

  • 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] Each antigenic type is designated as “ ij ” by virtue of containing allele i at one locus and allele j at the other.[pnas.org] Rimmelzwaan 1 , B. E. E. Martina 2 , T. M. Bestebroer 1 , R. A. M.[doi.org] 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] 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] This entry describes 2 isoforms i produced by ribosomal frameshifting .[uniprot.org] […] associated with pandemic (H1N1) 2009 virus infection among adults using a global clinical site network approach: The INSIGHT FLU 002 and FLU 003 studies , Vaccine , 29 , (B56[doi.org] Amplicons were prepared for sequencing by incubating them at 37  C for 60 min with 0.5 U of shrimp alkaline phosphatase (Amersham) and 1 U of exonuclease I (Amersham) to inactivate[dx.doi.org] 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 middle panel s hows the wt M2 channel in the open state.[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] This mutation was not found in 100 control alleles, and was considered responsible for presentation of the XLG type II phenotype.[ncbi.nlm.nih.gov] […] 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] PHK consists of four different subunits, alpha, beta, gamma, and delta.[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] […] of the beta subunit, and the muscle isoform of the gamma subunit.[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] 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] These results demonstrate that: (i) XLG2 is caused by mutations in PHKA2 and is therefore allelic with XLG1; and (ii) XLG2 mutations appear to cluster in limited sequence[ncbi.nlm.nih.gov]

    Missing: (B56) wt
  • LIG4 Syndrome

    Term Browser Genes (2) Models (2) Disease References using Mouse Models (2)[informatics.jax.org] The patient was compound heterozygous; the mutation in the other LIG4 allele was arg814 to ter (601837.0002).[coriell.org] We report here on a case of LIG4 syndrome complicated with distinct EBV-associated B-cell lymphoma.[ncbi.nlm.nih.gov] 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] Zebrafish have p53, p63 and p73 genes, as well as the regulatory mdm2 and mdm4 genes (Lu and Abrams, 2006).[zdoc.site] This entry has 1 described isoform and 1 potential isoform that is computationally mapped.[uniprot.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] The A3V T9I protein showed reduced adenylation activity compared with WT LIG4 protein ( 50% of the WT activity) (Fig. 2 A).[academic.oup.com] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[mcb.asm.org]

    Missing: (B56)
  • 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] The neuronatin gene is imprinted and only the paternal allele is normally expressed in the adult.[ncbi.nlm.nih.gov] 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] KEYWORDS: EEG; Lafora disease; Progressive myoclonic epilepsy; autoimmune encephalitis; epilepsy; extreme delta brush[ncbi.nlm.nih.gov] 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] 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] 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] Laf indicates WT laforin transgene expressed in indicated LD genotype.[doi.org] 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] 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]

    Missing: (B56)
  • Neuronal Ceroid Lipofuscinosis

    There is a lack of accepted safety for use under medical supervision. 2 Has a high potential for abuse.[drugs.com] These common mutations are IVS5-1G C and R208X (636C T) in CLN2 . 10 Analyses were conducted by allele specific PCR.[doi.org] We describe a rare case of adult-onset neuronal ceroid lipofuscinosis (NCL) type B with probable autosomal dominant inheritance, exhibiting behavioral and cognitive abnormalities[ncbi.nlm.nih.gov] Moreover, it also should include a discussion of potential indications for the application of delta 9-Tetrahydrocannabinol (THC) (Dronabinol, Marinol) in childhood.[ncbi.nlm.nih.gov] […] alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory[fulgentgenetics.com] This entry has 1 described isoform and 12 potential isoforms that are computationally mapped.[uniprot.org] .- ) trypanosomiasis ( B56.- , B57.- ) vitamin B deficiency ( E53.8 ) Includes Major neurocognitive disorder in other diseases classified elsewhere Type 2 Excludes dementia[icd10data.com] Increased acid phosphatase reaction suggested enhanced lysosomal activity.[ncbi.nlm.nih.gov] Immunohistochemical studies for mitochondrial ATP synthase subunit c showed a strong reaction in these cells, suggesting abnormal accumulation of subunit c.[ncbi.nlm.nih.gov] Conditioned medium from activated CLN3(Δex7/8) or WT microglia induced significant cell death in CLN3(Δex7/8) but not WT neurons, demonstrating that intrinsically diseased[ncbi.nlm.nih.gov]

  • Activated PI3K-Delta Syndrome

    Kayu manis juga menghambat ekspresi interleukin-1 (IL-1 ), IL-6, Tumor Necrosis Factor-α (TNF-α) dan siklooksigenase-2 (COX-2) yang merupakan agen proinflamasi dan proliferasi[id.123dok.com] […] pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles[fulgentgenetics.com] An increase in B cell proliferation in combination with reduced immune system function may contribute to development of B-cell lymphoma.[ghr.nlm.nih.gov] Homepage Rare diseases Search Search for a rare disease Activated PI3K-delta syndrome Disease definition Activated PI3K-delta syndrome is a rare, genetic, primary immunodeficiency[orpha.net] Location: Discovery Centre (CTIR) Room 2.84 - Sir Kenneth & Lady Noreen Murray Seminar Room Mutations in the PIK3CD and PIK3R1 genes encoding the p110delta catalytic and p85 regulatory[lifesci.dundee.ac.uk] "Antigen receptor signalling: a distinctive role for the p110δ isoform of PI3K". Trends in Immunology. 28 (2): 80–87. doi:10.1016/j.it.2006.12.007. ISSN 1471-4906.[en.wikipedia.org] SATURDAY, JANUARY 21 08:00—11:15 Phosphatases Meeting has ended...abstracts no longer viewable online. * Len R. Stephens , Babraham Institute, UK * Brendan D.[keystonesymposia.org] It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...[ncbi.nlm.nih.gov] WT p110δ/Δ434–475 p85α.[pnas.org] PIK3CD gene mutations involved in activated PI3K-delta syndrome lead to production of an altered p110δ protein.[elbiruniblogspotcom.blogspot.com]

    Missing: (B56)
  • 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] Accumulation of the unique 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[doi.org] B e antigen (HBeAg) status.[doi.org] Description The Hepatitis delta virus (HDV) encodes a single protein, the hepatitis delta antigen (HDAg).[ebi.ac.uk] 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] HDV genome contains only one actively transcribed open reading frame which encodes for two isoforms of hepatitis delta antigen.[ncbi.nlm.nih.gov] Adenosindesaminase Adenosindesaminase im Punktat Adiponektin ADMA Adrenalin im Urin AFP im Fruchtwasser AH-100 ALAT (Alanin-Aminotransferase) Albumin Aldolase Alkalische Phosphatase[laborberlin.com] A biotin moiety of WT b facilitated purification of the complex of WT b and its binding partner(s) by streptavidin beads.[doi.org] The M protein includes the pre-S2 and S regions, whereas the S protein consists of the S domain only.[doi.org] Association between class I HLA alleles and HBs antigen carrier status among blood donors in Senegal. Dakar Med. 44 : 166 -170. Dumpis, U., E. C. Holmes, M. Mendy, A.[doi.org]

    Missing: (B56)
  • Barth Syndrome

    […] syndrome MGA2 3-methylglutaconic aciduria type 2 X-linked cardioskeletal myopathy and neutropenia 3-methylglutaconic aciduria type II 3-Methylglutaconic Aciduria, Type 2[wikidata.org] There is a single fly ortholog, Taz , for which insertion alleles, insertion excision alleles, and RNAi-targeting constructs have been generated.[flybase.org] (B) Growth curves.[dmm.biologists.org] Mitochondria in Delta taz1 yeast, similar to ATP synthase oligomer mutants, exhibit altered cristae morphology even though ATP synthase oligomer formation is unaffected.[ncbi.nlm.nih.gov] Cardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and function. J Bioenerg Biomembr . Epub November 29, 2014. 131.[dovepress.com] Mitochondrial phosphatase PTPMT1 is essential for cardiolipin biosynthesis.[frontiersin.org] Yme1p, Yme1 K327R , Yme1 E541Q , or the empty vector ( Fig. 6 B ). wt Yme1p failed to copurify either the A88E or wt Taz1p.[jcb.rupress.org] Combining those profiles with gene set enrichment analysis allows detecting significantly affected protein complexes.[biorxiv.org] J Lipid Res 51 : 856 – 865 Mulligan CM , Le CH , Demooy AB , Nelson CB , Chicco AJ ( 2014 ) Inhibition of Delta‐6 Desaturase Reverses Cardiolipin Remodeling and Prevents Contractile[embomolmed.embopress.org] The TAZ / clones failed to express RA, the full-length tafazzin transcript, but they still produced the two shorter isoforms RB and RC ( Fig. 1 B ).[pnas.org]

    Missing: (B56)
  • Spinocerebellar Ataxia Type 6

    Abstract Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM) have been known as allelic disorders, which are caused by[ncbi.nlm.nih.gov] Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q[ncbi.nlm.nih.gov] Magnification: 2000 (A); 10 000 (B).[doi.org] Gabapentin and pregabalin interact with the alpha 2 delta subunit of the VDCCs and improved ataxia in cases of cortical cerebellar atrophy (CCA) and ataxia-telangiectasia.[ncbi.nlm.nih.gov] Limitations of the interpretation of the CACNA1A result in this case include the possibility of other currently undetectable mutations in CACNA1A or regulatory regions; epistatic[omicsonline.org] Taking advantage of this molecular phenomenon, we developed a novel splice isoform-specific (SIS)-RNAi strategy that selectively targets the polyQ-encoding Ca(V)2.1 splice[ncbi.nlm.nih.gov] Cell specific modulators, such as kinases and phosphatases, of the calcium channel could also contribute to the restricted expression of this genetic mutation.[jnnp.bmj.com] […] only when expressed with beta(4) subunits and impairs normal G-protein regulation of P/Q channels.[ncbi.nlm.nih.gov] The electrophysiological behavior of alpha(1A) subunits containing expanded (EXP) numbers of CAG repeats (23, 27, and 72) was compared against that of wild-type subunits (WT[ncbi.nlm.nih.gov] […] by the protein quality control system.[ncbi.nlm.nih.gov]

    Missing: (B56)