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8,870 Possible Causes for (inhibitor), 1, 1,, 11, phosphatase, protein, pseudogene, regulatory, subunit

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  • Carney Complex

    We studied 101 subjects, including 51 affected members, from 11 North American kindreds with Carney complex.[jci.org] Acronym CNC1 Synonyms CAR Carney complex, type 1 Carney myxoma-endocrine complex Carney syndrome LAMB syndrome Myxoma, spotty pigmentation, and endocrine overactivity NAME[uniprot.org] Application of a PKA inhibitor inhibited the basal currents in these adenoma cells, results that were not observed in nonadenomatous somatotrophs.[ncbi.nlm.nih.gov] Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences[fulgentgenetics.com] AMP-Dependent Protein Kinase RIalpha Subunit PRKAR1A protein, human RNA, Messenger RNA, Small Interfering SMAD3 protein, human Smad3 Protein Transforming Growth Factor beta[ncbi.nlm.nih.gov] PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. ‏[books.google.com] 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[ncbi.nlm.nih.gov] Analysis of 11 kindreds and linkage to the short arm of chromosome 2.[doi.org] Abstract Carney Complex (CNC) and Multiple Endocrine Neoplasia type 1 (MEN1) are forms of multiple endocrine neoplasia of dominant autosomal inheritance.[ncbi.nlm.nih.gov]

  • Alpha-1 Antitrypsin Deficiency

    Hum Gene Ther. 2015 Nov;26(11):709-18. doi: 10.1089/hum.2015.044. Epub 2015 Sep 29.[ncbi.nlm.nih.gov] […] in alpha-1 AT deficiency.[ncbi.nlm.nih.gov] Abstract The primary serum proteinase inhibitor is alpha 1-antitrypsin, and deficiency of this enzyme has been associated with a variety of systemic and cutaneous disorders[ncbi.nlm.nih.gov] This gene cluster includes the corticosteroid binding globulin (CBG), AAT-like pseudogene (PIL), AAT, protein C inhibitor (PCI), and α 1 -antichymotrypsin (AACT) genes (centromere[doi.org] The severely misfolded mutants trigger an unfolded protein response (UPR) that promotes improved protein folding but can kill the cell in the chronic setting.[ncbi.nlm.nih.gov] The medical, patient, and regulatory communities have sought assurance that this expensive therapy provides measurable clinical benefit.[ncbi.nlm.nih.gov] During her hospitalization, her total bilirubin increased to 38.6 mg/dL; alkaline phosphatase to 362 IU/L, alanine aminotransferase to 71 IU/L and aspartate aminotransferase[ncbi.nlm.nih.gov] Urin 17-Ketosteroide i.SU 5-Hydroxytryptophan im Plasma Adrenalin im EDTA Alpha-Subunit im Serum Anti-Müller-Hormon beta-CrossLaps (b-CTX) Beta-D-Glukan Biotin im Serum Biotin[laborberlin.com] Schwerk N 2 , Pittschieler K 3 , Ahrens F 4 , Baden W 5 , Bals R 6 , Fähndrich S 6 , Gleiber W 7 , Griese M 8 , Hülskamp G 9 , Köhnlein T 10 , Reckling L 7 , Rietschel E 11[ncbi.nlm.nih.gov]

  • Influenza

    […] deliver/fulltext/jgv/92/11/2485.html?[doi.org] IL-1 receptor (IL-1R1).[doi.org] Selected Treatment Trials of Neuraminidase Inhibitors.[dx.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.[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] 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] SEARCH METHODS: We searched trial registries, electronic databases (to 22 July 2013) and regulatory archives, and corresponded with manufacturers to identify all trials.[ncbi.nlm.nih.gov] It was lowest for children aged 5-14 (11 (range 3-36) per 100 000) and highest for those aged or 65 (980 (range 300-3200) per 100 000).[ncbi.nlm.nih.gov]

    Missing: pseudogene
  • Phosphorylase Kinase Deficiency

    J Pediatr Gastroenterol Nutr 55:90–92 PubMed CrossRef Google Scholar 11.[doi.org] We analysed the gene of the human alpha-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1[ncbi.nlm.nih.gov] In phosphorylase kinase-deficient muscle, glucose 6-phosphate, a powerful phosphorylase inhibitor, was 56% of that in normal muscle. 6.[biochemj.org] A pseudogene has been found on chromosome 1.[genecards.org] 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] […] 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] Anastassiadis T, Deacon SW, Devarajan K, Ma H, Peterson JR. (2011) Comprehensive assay of kinase catalytic activity reveals features of kinase inhibitor selectivity.[guidetopharmacology.org]

  • Episodic Ataxia

    J Physiol. 2010 Jun 1;588(Pt 11):1905-13. doi: 10.1113/jphysiol.2009.186437. Epub 2010 Feb 15.[ncbi.nlm.nih.gov] Table 1: V408A mutation in mKv1.1 is homozygous lethal.[doi.org] All the affected members were successfully treated with acetazolamide, a carbonic anhydrase inhibitor. They are asymptomatic at 2 year follow-up.[ncbi.nlm.nih.gov] […] allele fraction of 14.6% is detected with 90% probability) Stretches of mononucleotide repeats Indels larger than 50bp Single exon deletions or duplications Variants within pseudogene[blueprintgenetics.com] I262T appears to be the first EA1 mutation directly associated with impaired protein stability.[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] 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] 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] Sanger sequencing confirmed the heterozygous mutation of CACNA1A in a Chinese family with 11 affected individuals.[ncbi.nlm.nih.gov]

  • Novobiocin

    To determine if novobiocin and the 11-mer shared a common allosteric binding site, a biologically-active analog of the 11-mer peptide ([Bio-DOPA]11-mer) was chemically cross-linked[ncbi.nlm.nih.gov] RESULTS: Viability of HGF-1 was drastically reduced after 5 hour treatment with novobiocin in concentrations of 1 mM or higher.[ncbi.nlm.nih.gov] Blagg Chemistry - A European Journal 2016 22 (20), 6921-6931 Anticancer Inhibitors of Hsp90 Function Gaurav Garg , Anuj Khandelwal , Brian S.J.[doi.org] BACKGROUND: Heat shock protein 90 (Hsp90) interacts with and stabilizes several oncogenic protein kinases (e.g., p185(erbB2), p60(v-src), and Raf-1) and is required for the[ncbi.nlm.nih.gov] Therefore, NovG and StrR apparently belong to the same family of DNA-binding regulatory proteins.[mic.microbiologyresearch.org] A Phosphatase-Novobiocin-Mannose-Inhibition Test (PNMI-Test) together with a high NaCl concentration (10%) in combination with a coagulase test seems to be an acceptable compromise[ncbi.nlm.nih.gov] We have purified the major yeast novobiocin binding proteins and identified one of them as the beta-subunit of the yeast mitochondrial F1 ATP synthetase, a protein highly[ncbi.nlm.nih.gov] Novobiocin induced the dissociation of Hsp90 and Cdc37 from immature HRI, while the Hsp90 cochaperones p23, FKBP52, and protein phosphatase 5 remained associated with immature[ncbi.nlm.nih.gov] Novobiocin does not bind the ATP binding site but rather the interface between the ATPase subunits and the transmembrane subunits of the LPS transporter.[ncbi.nlm.nih.gov]

    Missing: pseudogene
  • Hepatitis C Virus

    Many of these HCV types comprised a number of more closely related subtypes, leading to a current total of 11 genetically distinct viral populations.[doi.org] In addition, shHO-1 inhibited HCV replication. CONCLUSION: In conclusion, hypericin inhibits HCV replication via down-regulation of HO-1 expression and deacetylation.[ncbi.nlm.nih.gov] KEYWORDS: Direct-acting antiviral; HIV; NS3/4A protease inhibitor; hepatitis C[ncbi.nlm.nih.gov] (A) The map shows the full-length OCLN gene with exons 1 to 9 and an inverted partly duplicated OCLN pseudogene (LOC647859) that includes exons 5 to 9.[doi.org] We propose that all proteins that contain amino acids encoded in the 1 ARF be called alternate reading frame proteins (ARFPs) and that specific ARFPs, such as the ARFP/F-protein[ncbi.nlm.nih.gov] Latest news List item 01/03/2019 Regulatory information – adjusted fees for applications to EMA from 1 April 2019 The European Medicines Agency (EMA) reminds applicants and[ema.europa.eu] […] genetics Dual-Specificity Phosphatases/metabolism* Exoribonucleases/genetics Exoribonucleases/metabolism* Gene Knockout Techniques Genome, Viral Hepacivirus/pathogenicity[ncbi.nlm.nih.gov] This binding was competitively inhibited by a peptide from the V3 loop of a human immunodeficiency virus glycoprotein subunit (gp120) known to bind with cell surface heparin[ncbi.nlm.nih.gov] . : Regulation of interferon regulatory factor-3 by the hepatitis C virus serine protease. Science 300(5622),1145–1148 ( 2003 ).[doi.org]

  • Streptococcus Lactis

    Williams, Pasch, Danou and Fields; Cosponsored by Senator Taylor 11/10/2009 Asm.[docs.legis.wisconsin.gov] Abstract SL-diet was prepared using commercial pellets supplemented with 1% pulverized Streptococcus lactis (SL).[ncbi.nlm.nih.gov] KiSS1 plus GPR54 inhibitor). The expression of GAPDH was used as control in each condition.[doi.org] pseudogenes occurred from insertion of IS elements.[dx.doi.org] Clusters 3,026 3,026 Identical Protein Groups 123,185 89,327 Bio Project 185 57 Bio Sample 577 254 Bio Systems 2,241 178 Assembly 195 63 Probe 21 9 PubChem BioAssay 33 30[ncbi.nlm.nih.gov] Regulatory RNA in bacterial pathogens .[doi.org] .: #20218] Marker Gene (GenBank Direct submission) Lactococcus lactis subsp. lactis strain NIZO29 DNA-directed RNA polymerase alpha subunit (rpoA) gene, partial cds EU111204[bacdive.dsmz.de] Åkerberg 1 K. Hofvendahl 2 G. Zacchi 1 B. Hahn-Hägerdal 2 1. Department of Chemical Engineering 1, Lund Institute of Technology/Lund University, P.O.[doi.org] Starrenburg 1 , 2 , Douwe Molenaar 1 , 2 , 3 , Michiel Kleerebezem 1 , 2 , 4 , 6 and Johan E.T. van Hylckama Vlieg 1 , 2 , 5 1 NIZO Food Research, 6710BA Ede, The Netherlands[doi.org]

  • Hemophilia A

    Nogami K 1 , Shima M 2 , Fukutake K 3 , Fujii T 4 , Taki M 5 , Matsushita T 6 , Higasa S 7 , Sato T 8 , Sakai M 9 , Arai M 10 , Uchikawa H 11 , Engl W 12 , Abbuehl B 12 ,[ncbi.nlm.nih.gov] Zhao M 1 , Chen M 1 , Tan ASC 1, 2 , Cheah FSH 2 , Mathew J 3 , Wong PC 4, 3 , Chong SS 1, 2, 5 .[ncbi.nlm.nih.gov] RESULTS: A total of 109 male participants with hemophilia A with inhibitors were enrolled.[ncbi.nlm.nih.gov] During the meiosis occurring in spermatogenesis, these homologues (sometimes referred to as pseudogenes) can undergo homologous recombination with the expressed exon sequence[cancertherapyadvisor.com] […] what is the most important information I should know about ELOCTATE [Antihemophilic Factor (Recombinant), Fc Fusion Protein]?[bioverativ.com] KEYWORDS: B regulatory cells; LPR; follicular cells; hemophilia A; inhibitors[ncbi.nlm.nih.gov] No participant had abnormal elevations in the bilirubin or alkaline phosphatase level.[doi.org] Localization of a factor X interactive site in the A1 subunit of factor VIIIa . J. Biol. Chem. 272 , 2082–2088 (1997). 18. Liu, Z. et al.[nature.com] […] one year on from a single treatment with a gene therapy drug, participants with haemophilia A (the most common type) are showing normal levels of the previously missing protein[bartshealth.nhs.uk]

  • Herpes Simplex Virus 1 Infection

    Blood. 1998 Dec 1;92(11):4472-8.[ncbi.nlm.nih.gov] Herpes simplex virus type 1 (HSV-1) is the more common type of Herpes simplex virus.[symptoma.com] Inhibition was achieved by adding cdk9 inhibitors 5,6-dichlorobenzimidazone-1-β-D-ribofuranoside (DRB) or flavopiridol (FVP) or by expression of a dominant-negative cdk9 or[ncbi.nlm.nih.gov] Sections from the cultured TG fragments were stained with antisera against non-structural proteins such as the immediate early (IE) protein ICP27 and the early (E) proteins[ncbi.nlm.nih.gov] Investigation of the mechanisms showed that poly-I:C or ssRNA treatment enhanced the expression of several IFN regulatory factors.[ncbi.nlm.nih.gov] Positive immunostaining for HSV-1 specific antigens was consistently detectable using 11 10(6)PFU from 13 h onwards, mainly on cells located in the submucosa, and in the perivascular[ncbi.nlm.nih.gov] The disruption of F-actin dynamics by chemical inhibitors significantly reduced the efficiency of viral infection and intracellular HSV-1 replication.[ncbi.nlm.nih.gov] Expert Opin Pharmacother . 11 (5): 853–60. doi : 10.1517/14656561003691847 . PMID 20210688 . Gilbert SC (2007).[en.wikipedia.org] Although the double-stranded RNA-dependent protein kinase (PKR) is activated during HSV infection, the gamma(1)34.5 protein inhibits the activity of PKR by mediating dephosphorylation[ncbi.nlm.nih.gov]

    Missing: pseudogene