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33 Possible Causes for Allele, RRM1, wt

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  • Pseudohypoparathyroidism

    Williamson CM, Ball ST, Nottingham WT, Skinner JA, Plagge A, Turner MD, Powles N, Hough T, Papworth D, Fraser WD, Maconochie M, Peters J: A cis-acting control region is required[karger.com] GNAS locus that reduce transcription of Gα(s) from the maternal allele.[ncbi.nlm.nih.gov] DACH1, STAT2, GLI1, BRD2, ELK1, IGF2, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, PEAR1, CRHR1, STAG1, SS18L1, ESR1, NTF4, RRM1[mendelian.co]

  • Primary Torsion Dystonia 6

    View Article Google Scholar Tanabe LM, Kim CE, Alagem N, Dauer WT: Primary dystonia: molecules and mechanisms.[springerplus.springeropen.com] […] dystonia patient cohort [ PMID 17503336 ] Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. [ PMID 19260107 ] The p.Asp216His TOR1A allele[snpedia.com] Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1.[genecards.org]

  • Trypanosoma Brucei

    SRA binding to WT or mutant apoL1s, provided with a C-terminal V5-His6 tag. C. Quantification of SRA binding to WT or mutant apoL1s. D.[doi.org] For chemical validation, we overcame the lack of AEK1 inhibitors by creating parasites expressing a single, functional analog-sensitive AEK1 allele.[ncbi.nlm.nih.gov] Trypanosoma brucei RRM1 is a nuclear RNA-binding protein and modulator of chromatin structure. MBio. 2015;6(2):e00114.[bmcgenomics.biomedcentral.com]

  • Gemcitabine

    Wt 299.66 Formula C 9 H 11 F 2 N 3 O 4 .HCl Storage Desiccate at 4 C Purity 99% (HPLC) CAS Number 122111-03-9 PubChem ID 69101485 InChI Key OKKDEIYWILRZIA-OSZBKLCCSA-N Smiles[tocris.com] RESULTS: Allele frequency of CTR1 polymorphism G?T was found to be 25%.[cancerindex.org] Mechanistic investigations showed that gemcitabine sensitization by CHK1 inhibition was associated with CDK‑dependent RRM1/2 downregulation and DNA damage enhancement.[ncbi.nlm.nih.gov]

  • Infantile Dystonia - Parkinsonism

    Full text of GeneReview (by section): Summary GeneReview Scope Diagnosis Clinical Characteristics Genetically Related (Allelic) Disorders Differential Diagnosis Management[ncbi.nlm.nih.gov] DACH1, STAT2, GLI1, BRD2, ELK1, IGF2, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, PEAR1, CRHR1, STAG1, SS18L1, ESR1, NTF4, RRM1[mendelian.co] Methodology/Principal Findings We produced purified recombinant wildtype (WT) and mutant human PLA2G6 proteins and examined their catalytic function using in vitro assays[figshare.com]

  • Vinorelbine

    Wt 1079.1 Formula C 45 H 54 N 4 O 8 .2C 4 H 6 O 6 Storage Store at -20 C Purity 97% (HPLC) CAS Number 125317-39-7 PubChem ID 5311497 InChI Key GBABOYUKABKIAF-IELIFDKJSA-N[tocris.com] Risk of severe hepatotoxicity was significantly lower in carriers of the C allele of STMN1 (-2166T C, OR 0.09, 95 % CI: 0.01-1.12, p 0.025) than in patients with T allele[ncbi.nlm.nih.gov] RESULTS: In 66 patients eligible for IHC, the H-score was upper quartile in 21 (RRM1-positive) and CONCLUSION: Our findings suggest a possible role of RRM1 in predicting efficacy[ncbi.nlm.nih.gov]

  • Carney Complex Type 1

    Winchester Syndrome Winter Harding Hyde Syndrome Winter Shortland Temple Syndrome Wolf-Hirschhorn syndrome Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears WT[rgd.mcw.edu] Allelic mutations to LEOPARD.[visualdx.com] DACH1, STAT2, GLI1, BRD2, ELK1, IGF2, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, PEAR1, CRHR1, STAG1, SS18L1, ESR1, NTF4, RRM1[mendelian.co]

  • Genee-Wiedemann Syndrome

    Spivey PS, Bradshaw WT. Recognition and management of the infant with Beckwith-Wiedemann syndrome. Adv Neonatal Care 2009;9:279-84. 2.[jcnonweb.com] These discrepancies are partly explained by the domain structure of DHODH and suggest both assays are useful for interpretation of individual alleles.[ncbi.nlm.nih.gov] SPTBN1 spectrin, beta, non-erythrocytic 1 0.38111 CTSS cathepsin S 0.362978 UBR1 ubiquitin protein ligase E3 component n-recognin 1 0.360026 HBB hemoglobin, beta 0.357814 RRM1[amp.pharm.mssm.edu]

  • Pseudopseudohypoparathyroidism

    Gejman PV, Weinstein LS, Martinez M, Spiegel AM, Cao Q, Hsieh WT, Hoehe MR, Gershon ES.[e-enm.org] The remaining two PHP-Ib showed a loss of methylation of exon 1A on the maternal allele as a consequence of heterozygous 3-kb microdeletions within the STX16 gene.[ncbi.nlm.nih.gov] RAD51, FLT1, KDR, TNFAIP3, SLCO1B1, DHFR, XPC, CCND1, BCL2, IGF1R, MDM2, DDR2, ERBB2, ERCC1, SMO, MYC, AXL, ERBB4, PARP1, CCNE1, KEAP1, NFE2L2, RPTOR, ROS1, FGFR4, ESR1, RRM1[mendelian.co]

  • Verheij Syndrome

    Taylor AK, Tassone F, Dyer PN, Hersch SM, HarrisJB, Greenough WT, Hagerman RJ.[docslide.com.br] allele on inactive X chromosome; Full: inactive allele with full mutation.[jmg.bmj.com] (Asp159Asn)) are located in RRM1 and c.1472G A(p.(Gly491Glu) in RRM3. CADD scores 14 are shown in Table 1 and support effect on function of all three variants.[nature.com]