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6,440 Possible Causes for (Formerly, 2, 2A),, Allele, B'',, Beta, Phosphatase, Protein, Regulatory, Subunit, wt

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  • 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] […] 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] 2A), regulatory subunit B (PR 52), beta isoform protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform protein phosphatase 2, regulatory subunit B, beta[novusbio.com] This hypothesis would predict that the mutation changes the regulation of protein phosphatase 2A, with implications for the phosphoproteome.[ncbi.nlm.nih.gov] Nolin SL, Glicksman A, Ersalesi N, Dobkin C, Brown WT, Cao R, et al.[journals.plos.org] […] spots, which were confirmed as nine proteins by LC-MS/MS.[ncbi.nlm.nih.gov] 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] The disease is caused by an expansion of or 51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene.[ncbi.nlm.nih.gov]

  • 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] Zebrafish have p53, p63 and p73 genes, as well as the regulatory mdm2 and mdm4 genes (Lu and Abrams, 2006).[zdoc.site] Formerly, the AMP is transferred to the 5’-PO 4 3- DNA end to generate a covalent DNA-adenylate intermediate (Step 2).[wjgnet.com] Residual NHEJ in the above suicide deletion experiments cannot have been catalyzed by Dnl4-K282R as it cannot be adenylated (see Figure 2A ).[journals.plos.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]

  • 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] 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] (HA) Protein from Influenza Virus, A/California/04/2009 (H1N1)pdm09, Recombinant from Baculovirus Influenza A virus Proteins BEI Level 1 BEI Number NR-3227 Sendai Virus (formerly[beiresources.org] […] und -2, Coxsackie-Virus Typ B1 und A7 Feld D: Echo-Virus Typ 7, Borrelia afzelii, burgdorferi (CH), garinii Feld E: CMV, Haemophilus influenzae*, Listeria monocytogenes 1/2a[euroimmun.de] 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] Influenza virus M2 protein is an integral membrane protein expressed on the infected-cell surface. Cell 40 , 627–633 (1985). 5. Zebedee, S.L. & Lamb, R.A.[dx.doi.org]

  • Primary Pigmented Nodular Adrenocortical Disease

    Acronym PPNAD2 Synonyms Adrenal Cushing syndrome due to PPNAD2 Primary pigmented micronodular adrenocortical disease 2 Primary pigmented nodular adrenocortical disease-2 Keywords[uniprot.org] However, the hitherto unreported disease-relevant mutation R96X in exon 3 had occurred de novo on the paternal allele.[ncbi.nlm.nih.gov] Seite 95 - Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, Fusco A, Vecchio G, Matoskova B, Kraus MH, Et Al. ‎[books.google.de] 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).[ncbi.nlm.nih.gov] PHEOCHROMOCYTOMA ("paraganglioma", "pheo", formerly "ten percent tumor"; big NIH consensus review Ann. Int. Med. 134 : 315, 2001; big review for pathologists Arch. Path.[pathguy.com] Hiperparatiroidismo primario (usualmente hiperplasia de cuatro glándulas), adenomas hipofisarios anteriores, tumores del páncreas endocrino y duodeno, carcinoides embrionarios MEN subtipo 2A[medicalcriteria.com] 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 .[doi.org] GA 16 F 26 None WT 17 F 33 None b c.709 (-8-3)delATTTTT Patient Sex Age, y Extra-adrenal Manifestations PRKAR1A Status 1 F 25 None WT 2 F 55 None a WT 3 F 24 Blue naevi and[doi.org] […] of Carney complex, a familial lentiginosis-multiple endocrine neoplasia syndrome frequently caused by mutations in PRKAR1A, which encodes the 1alpha regulatory subunit of protein[ncbi.nlm.nih.gov] Nuclear translocation of beta-catenin protein in the PPNAD adenoma suggests activation of the Wnt-beta-catenin pathway in PPNAD.[ncbi.nlm.nih.gov]

  • 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] Cardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and function. J Bioenerg Biomembr . Epub November 29, 2014. 131.[dovepress.com] Formerly, there was a high mortality during infancy and childhood, few patients survived beyond the age of four years [1] .[enlivenarchive.org] Left panel: Immunostaining of cTNT, MLC (myosin light chain) 2a, and α‐actinin at day 60 post‐cardiac differentiation.[embomolmed.embopress.org] Mitochondrial phosphatase PTPMT1 is essential for cardiolipin biosynthesis.[frontiersin.org] Taz1p is not necessary for the normal expression of AAC2 or ATP synthase subunits or assembly of their respective complexes.[ncbi.nlm.nih.gov] 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]

  • 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] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[uniprot.org] […] configuration. [21] [22] Relation to disease [ edit ] Defects in phosphorylase kinase genes are the cause of glycogen storage disease type IX (GSD type IX) and GSD type VI (formerly[en.wikipedia.org] 4/12 M IX PHKA2 33 c.3614C T p.Pro1205Leu 9 1 7/12 F IX PHKA2 33 c.3614C T p.Pro1205Leu 10 2 6/12 M IX PHKA2 – DelXp22.13 – 11 7 10/12 M IX PHKB 14 c.1265dup – 27 c.2316-2A[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: wt
  • Interleukin-2

    […] low dose rIL-2.[doi.org] Frequency of each allele and genotype was compared with control group.[ncbi.nlm.nih.gov] 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] IL-2, regulatory T cells, and tolerance. J Immunol 2004 ;172: 3983 - 3988 22. Soiffer RJ, Murray C, Gonin R, Ritz J.[nejm.org] Dinutuximab (formerly ch14.18) is a human/mouse chimeric antibody that contains murine retroviruses and is unavailable in Europe.[am.asco.org] […] expression in human Th17 cells is retinoic acid orphan receptor (ROR)γt-dependent, and allows the upregulation of PPP2R2B, a regulatory member of the protein phosphatase 2A[ncbi.nlm.nih.gov] 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] This IL-2 showed a 16,000 and 17,000 mol wt in sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE).[ncbi.nlm.nih.gov] RefSeq protein isoforms See the other reference sequence protein isoform for the IL2 gene (XP_016863666.1).[ncbi.nlm.nih.gov]

  • TTR Amyloidosis with Cardiomyopathy

    The company expects to report topline results from this Phase 2 trial by the end of 2018.[prnewswire.com] Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. Amyloid 2015; 22 :171–4.[ecrjournal.com] The multiple regression analysis revealed that fibril type (B 0.203, CI 0.115–0.290), age (B 0.008, CI 0.005–0.012) and sex (B 0.202, CI 0.123–0.282) all had a positive association[journals.plos.org] “We look forward to learning more through further analyses of this study and continue to work with global regulatory authorities to bring this medicine to patients.”[businesswire.com] Immunoglobulin (AL) amyloidosis, formerly known as primary amyloidosis, is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils.[malacards.org] Both AL-CA and ATTR-CA lead to diffuse amyloid fibril deposition in the heart causing thickening of both ventricles ( Figure 2A ). 4,21 In AL, the pattern of amyloid deposition[mdedge.com] Common extracardiac sites of involvement and associated manifestations include the kidneys (albuminuria and potential renal failure), liver (elevations in alkaline phosphatase[acc.org] Each TTR subunit has 127 amino acids. More than 90 amino acids changes, in different positions, have been already reported.[ceparm.com] More than two dozen different amyloid fibril proteins have been identified in humans, and the nature of the amyloid precursor protein is pivotal for the classification of[symptoma.com] […] eventual heart failure. [2] Both mutant and wild-type transthyretin comprise the aggregates because the TTR blood protein is a tetramer composed of mutant and wild-type TTR subunits[en.wikipedia.org]

  • Congenital Lipoid Adrenal Hyperplasia due to STAR Deficiency

    Papadimitriou 1,2 , Ioanna ountzoula 2 , Georgia Tzortzatou 2 , Himangshu S.[yumpu.com] The following table summarizes the SNPs and their phenotypes; the allele designations are taken from the CYP21A2 Allele table at the Human Cytochrome P450 (CYP) Allele Nomenclature[snpedia.com] B. Saunders Co; 1992:565-70, 907-15. Berkow R, ed. The Merck Manual, 16th Ed. Merck Research Laboratories; 1992: 2224-26. Wyngaarden JB, Smith LH, eds.[rarediseases.org] Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science. 1995;267:1828–31.[ijponline.biomedcentral.com] The conversion reactions are mediated by a single enzyme, formerly referred to as 20,22-desmolase, but now identified as cytochrome P450scc (cholesterol side chain cleavage[en.wikipedia.org] […] neuropathy-hypogonadotropic hypogonadism syndrome Monosomy X Mosaic monosomy X Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2A[se-atlas.de] Protein phosphatase 2A and phosphoprotein SET regulate androgen production by P450c17. J Biol Chem. 2003 Jan 31; 278(5):2837-44. Bose HS, Lingappa VR, Miller WL.[pediatrics.ucsf.edu] […] highest expression level in metanephros CleanEx i HS_STAR ExpressionAtlas i P49675 baseline and differential Genevisible i P49675 HS Organism-specific databases Interaction i Subunit[uniprot.org] This change is likely to have resulted from additional contacts of S221 with V116 which are absent in WT StAR. Figure 4.[journals.plos.org] […] dehydrogenase (3 beta-HSD) deficiency Indicated by increased pregnenolone, 17-OH pregnenolone, dehydroepiandrosterone (DHEA), and DHEA sulfate (DHEAS) Testing in infants[arupconsult.com]

  • Episodic Ataxia

    […] in an EA–2 clinical phenotype.[doi.org] A small expanded (CAG) n allele at the SCA17 locus. Arch Neurol 59:623–9 (2002).[karger.com] Arch Neurol. 2009; 66 :97–101. [ PubMed : 19139306 ] Denier C, Ducros A, Durr A, Eymard B, Chassande B, Tournier-Lasserve E.[ncbi.nlm.nih.gov] These studies provide the first evidence that mutations associated with human genetic disorders can affect cis-regulatory elements to alter RNA editing.[ncbi.nlm.nih.gov] In two families with EA-2 and four families with familial hemiplegic migraine (FHM), point mutations were identified in CACNA1A (formerly known as CACNL1A4), which maps to[jnnp.bmj.com] […] corneal endotelial Distrofia corneal endotelial de Fuchs Distrofia de cinturas autosómica dominante Distrofia de cinturas autosómica recesiva Distrofia de Cinturas tipo 2A[progenie-molecular.com] We propose that EA1 mutations affect the rate of N-type inactivation either by reduced subunit surface expression, giving rise to a reduced number of Kv1.1 subunits in heterotetramer[ncbi.nlm.nih.gov] Upon coexpressing the cRNA of alpha(1A)-WT with each alpha(1A)-mutant in molar ratios ranging from 1:1 to 1:10, the amplitude of Ba(2 ) currents through wild-type (WT)-Cav2.1[ncbi.nlm.nih.gov] I262T appears to be the first EA1 mutation directly associated with impaired protein stability.[ncbi.nlm.nih.gov] Patch-clamp recording in HEK 293 cells, coexpressing the mutagenized human alpha(1A-2) subunit, together with human beta(4) and alpha(2)delta subunits, showed that channel[ncbi.nlm.nih.gov]