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2,304 Possible Causes for (C, Smg 5, decay, factor, homolog,, mRNA, mediated, nonsense

Did you mean: (C, Smg 5, decay, factor, homolog, mania, mediated, nonsense

  • LIG4 Syndrome

    Analysis of T and B cell antigen receptor repertoires demonstrated increased usage of alternative microhomology-mediated end-joining (MHMEJ) repair, leading to diminished[jhu.pure.elsevier.com] […] ligase IV protein was barely detectable in patient 2303 indicating that in vivo the R814X truncated protein shows reduced expression most likely due to non sense mediated decay[academic.oup.com] BC037491 mRNA Translation: AAH37491.1 CCDS i CCDS9508.1 PIR i I37079 RefSeq i NP_001091738.1 , NM_001098268.1 NP_001317524.1 , NM_001330595.1 NP_002303.2 , NM_002312.3 NP_[uniprot.org] c.1198A C (p.Ile400Leu) single nucleotide variant Uncertain significance rs886049949 GRCh38 Chromosome 13, 108210071: 108210071 46 LIG4 NM_002312.3(LIG4): c.1198A C (p.Ile400Leu[malacards.org] LIG4 syndrome is conferred by hypomorphic mutations in DNA ligase IV, an essential component of DNA non-homologous end-joining (NHEJ), and is associated with pancytopaenia[ncbi.nlm.nih.gov] The mutation resulted in a nonsense codon at amino acid 814 of the LIG4 gene.[coriell.org] […] skeletal muscle tissue induces early embryo, stem cell, and germline genes; activates recurring components; suppresses innate immune system response and nonsense-mediated RNA decay[perlierusa.com] […] retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous[semanticscholar.org]

    Missing: Smg 5
  • Influenza

    Abstract Immune-mediated necrotizing myopathy is a very rare inflammatory disease affecting skeletal muscles.[ncbi.nlm.nih.gov] […] strain-transcending immunity can, in a spatially heterogeneous model, result in a single strain giving rise to an epidemic within the window of opportunity created by the rapid decay[pnas.org] […] injected once i.d. with 80 μg PR8HA mRNA, PR8NA mRNA, both mRNAs or buffer.[doi.org] All isolates were identified serologically as type C influenza virus.[ncbi.nlm.nih.gov] This study aimed to estimate the proportion of chronically ill adults vaccinated against influenza in consecutive seasons and to identify associated factors.[ncbi.nlm.nih.gov] Heterologous mean HI titers were normalized to mean homologous HI titers (mean heterologous titers/mean homologous titers).[doi.org] […] when the reading frame of PB1-F2 was examined in the overlapping region of the 256 PB1 sequences used for the natural selection analysis in the present study, 2, 3, and 4 nonsense[dx.doi.org] The widespread devastation inflicted by plagues was thought to result from inhaling the putrescent vapors of decaying corpses.[doi.org]

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  • Factor IX

    CONCLUSIONS: IgE-mediated reactions to factor IX do occur and may be diagnosed with the use of skin test and RAST.[ncbi.nlm.nih.gov] Nonsense-mediated mRNA decay (NMD) is a defined cellular response that can potentially prevent the production of such deleterious C-terminal truncated proteins from aberrant[ncbi.nlm.nih.gov] Abstract We report a quantitative protein C deficiency combined with a factor IX deficiency in a one-year-old boy.[ncbi.nlm.nih.gov] This antibody was found to bind to a common metal-ion-dependent conformational epitope found on the γ-carboxyglutamic acid (Gla) domain of prothrombin, factor X and factor[ncbi.nlm.nih.gov] After generation of three-dimensional structures, by homology-based modeling, the five designed analogs were examined by molecular dynamic (MD) simulations, to predict their[ncbi.nlm.nih.gov] […] observed that regular splicing at exons 5 and 6 of F9 was disturbed by the SVA retrotransposition, suggesting that abnormal FIX mRNA may be reduced by nonsense-mediated mRNA decay[ncbi.nlm.nih.gov] Comparison among highly homologous coagulation serine proteases indicate that additive or compensatory pleiotropic effects on secretion and function by carboxyl-terminal mutations[ncbi.nlm.nih.gov] Our studies suggest that CRISPR/Cas-mediated in situ genome editing could be a feasible therapeutic strategy for human hereditary diseases, although an efficient and clinically[ncbi.nlm.nih.gov]

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  • Insulin-Like Growth Factor I

    Among oral contraceptive ever users, exogenous estrogen had a strong mediation effect (67%; p .018) in the race-IGF-I relationship.[ncbi.nlm.nih.gov] CONCLUSIONS: The mutation results in haploinsufficiency of IGF1R protein due to nonsense-mediated mRNA decay and is associated with familial short stature.[ncbi.nlm.nih.gov] IGFIR and IR mRNA levels were assessed by qRT-PCR, and IR-A:IR-B mRNA ratios by standard PCR.[ncbi.nlm.nih.gov] Total and abdominal fat masses were related to C-peptide but not to IGF-I.[ncbi.nlm.nih.gov] Abstract In the current study, the prognostic and predictive values of serum transforming growth factor-β1 (TGF-β1), insulin-like growth factor I (IGF-I)/IGF-I receptor (IGF-IR[ncbi.nlm.nih.gov] IGF-I and -II share 70% homology in amino acid sequence, while IGF-I and proinsulin share 48% homology.[sigmaaldrich.com] OBJECTIVE: This study is designed to evaluate the correlations of insulin-like growth factor I (IGF-I) and insulin-like growth factor I receptor (IGF-IR) expressions with[ncbi.nlm.nih.gov] […] to receptor tyrosine phosphatase β (RPTPβ), and this binding in conjunction with IGF-I receptor stimulation induces RPTPβ polymerization leading to phosphatase and tensin homolog[ncbi.nlm.nih.gov]

    Missing: Smg 5
  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Our observations support the importance of phosphate as a mediator in controlling 1,25-dihydroxyvitamin D production in human beings.[ncbi.nlm.nih.gov] They may also need dental sealants to protect their teeth from decay. You need phosphate to maintain healthy bones.[healthline.com] Thus, the allele c.942 C might affect splicing, skip exon 8 and produce an aberrant mRNA.[ojrd.biomedcentral.com] c.1571_1880del mutation.[ncbi.nlm.nih.gov] We also show that the phosphaturic factor FGF23 (fibroblast growth factor 23), which is increased in X-linked hypophosphatemic rickets and carries activating mutations in[ncbi.nlm.nih.gov] Sequence analysis of the deleted regions revealed the presence of direct repeats of homologous sequences.[unboundmedicine.com] After correction for surface expression, the rate of 33P uptake by oocytes mediated by EGFP-[M137]hNaPi-IIc was decreased by an additional 60%.[ncbi.nlm.nih.gov] We also performed an oral phosphate loading test and compared serum phosphate, intact PTH, and intact fibroblast growth factor 23 (iFGF23) in this patient versus patients[ncbi.nlm.nih.gov]

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  • Osteoporosis

    As this homeodomain-disrupting and predicted truncating mutation resides within the final exon of SATB2, escape from nonsense-mediated decay is likely.[ncbi.nlm.nih.gov] Additionally, downregulation of miR‑214‑5p increased the ALP, Runx2, OC and COL1 mRNA expression and increased TGF‑β, Smad2 and COL4A1 protein expression in BMSCs.[ncbi.nlm.nih.gov] Here we describe skeletal findings in 4 boys from 2 families with mutations in PLS3 (c.994_995delGA; p.Asp332* in family 1; c.1433T   C; p.Leu478Pro in family 2).[ncbi.nlm.nih.gov] The aim of this study was to identify factors associated with osteoporosis treatment in postmenopausal women.A cross-sectional study was carried out from March to August 2013[ncbi.nlm.nih.gov] An orphan nuclear receptor, estrogen receptor–related receptor (ERR ), with sequence homology to ER and ERß, is also present in bone cells ( 22 ).[web.archive.org] Barkmann, C. C. Glüer and A. P.[doi.org] Recently, mounting evidences highlight an important correlation between autophagy and bone homeostasis, mediated by osteoclasts, osteocytes, bone marrow mesenchymal stem cells[ncbi.nlm.nih.gov] However Zebaze 2010 reported that most bone loss is cortical, not trabecular, and occurs after the age of 65 years; and that the resulting structural decay, including the[doi.org]

    Missing: Smg 5
  • Factor V Deficiency

    […] deletion breakpoints, determined by using a combination of semi-quantitative real-time PCR and long PCR assays, occurred within AluY repeat sequences, suggesting an Alu-mediated[ncbi.nlm.nih.gov] The results confirmed the involvement of nonsense-mediated mRNA decay in the degradation of F5 PTC( ) mRNA.[ncbi.nlm.nih.gov] Abstract We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination[ncbi.nlm.nih.gov] Abstract Resistance to activated protein C (APC), which is associated with the FV Leiden mutation in the large majority of the cases, is the most common genetic risk factor[ncbi.nlm.nih.gov] BACKGROUND AND OBJECTIVES: Factor V HR2 possesses decreased co-factor activity to activated protein C and an increased ratio of factor V1 to factor V2.[ncbi.nlm.nih.gov] Of note, the nonsense mutation has been confirmed to be a novel mutation.[ncbi.nlm.nih.gov] Activated protein C (APC), in complex with protein S, degrades coagulation factors Va and VIIIa, thus inhibiting coagulation.[merckmanuals.com] Also, because N1982 is strongly expected to be N-glycosylated judging from its structural homology to factor VIII, loss of this residue can influence proper folding of factor[ncbi.nlm.nih.gov]

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  • Werner Syndrome

    WS fibroblasts have an attenuated p53- mediated apoptotic response, and this deficiency can be rescued by expression of wild-type WRN.[ncbi.nlm.nih.gov] By semiquantitative RT-PCR analysis we demonstrate that this compound heterozygous genotype leads to WRN transcript decay.[ncbi.nlm.nih.gov] B., Lenaerts, C., Hoehn, H., Poot, M., Rubin, C. D., Chen, D. F., Yang, C. C., Juch, H., Dorn, T., Spiegel, R., Oral, E.[dx.doi.org] Ascorbate, an essential co-factor involved in HIF-1 stability, was decreased in WRN-depleted cells.[ncbi.nlm.nih.gov] Such homology does not necessarily mean that WRN encodes an active helicase.[ncbi.nlm.nih.gov] Mutations in the WRN gene can be of several types, including nonsense mutations, leading to a truncated protein form.[ncbi.nlm.nih.gov] […] mutations have been described, the majority being stop codon mutations, splice mutations, or small ins/del-producing truncations of the protein and/or non-sense–mediated decay[thehealthscience.com] These induced GPA V f elevations are dose-dependent, and in many instances decay with kinetics that parallel erythrocyte turnover (for example, see Refs. 11 , 12 ).[cancerres.aacrjournals.org]

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  • Junctional Epidermolysis Bullosa

    LAMB3 mRNA was still detectable in RT-PCR analysis although the aberrantly spliced mRNA leads to a stop codon in exon 21, 5' of the commonly assumed 3' border for nonsense-mediated[ncbi.nlm.nih.gov] […] bullosa with pyloric atresia has been mainly associated with the presence of premature termination codons in the mRNA encoding either the alpha6 or beta4 subunit causing rapid decay[ncbi.nlm.nih.gov] We collected three JEB-PA families with c.1938delC in ITGB4.[ncbi.nlm.nih.gov] It is unclear whether PA is caused directly by the mutations in these genes or by other factors.[ncbi.nlm.nih.gov] Abstract Definitive correction of disease causing mutations in somatic cells by homologous recombination (HR) is an attractive therapeutic approach for the treatment of genetic[ncbi.nlm.nih.gov] We found that gentamicin induced PTC readthrough in all eight nonsense mutations tested.[ncbi.nlm.nih.gov] We have created novel methods for inserting therapeutic genes into the chromosomes at specific places by using homologous recombination and recombinase enzymes.[med.stanford.edu] It results in mRNA decay.[ncbi.nlm.nih.gov]

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  • Schmid Metaphyseal Chondrodysplasia

    Mutations resulting in a premature termination codon (PTC) are a major cause of inherited disorders, and the majority of these mutant RNA transcripts are subjected to nonsense-mediated[ncbi.nlm.nih.gov] Each of the 10 SMCD mutations identified to date is within the C-terminal noncollagenous domain of type X collagen and three of five deletions initiated around the same nucleotide[ncbi.nlm.nih.gov] Mapped by homologous gene (Total Items:18) HP ID HP Name MP ID MP Name Annotation HP:0001363CraniosynostosisMP:0020137decreased bone mineralizationdecrease in the rate at[pediascape.org] Abstract Nonsense-mediated decay (NMD) is a eukaryotic cellular RNA surveillance and quality-control mechanism that degrades mRNA containing premature stop codons (nonsense[ncbi.nlm.nih.gov] […] effect of COL10A1 nonsense mutations in cartilage tissue has been examined in two patients, demonstrating that the mutant mRNA is completely removed by nonsense mediated mRNA decay[ncbi.nlm.nih.gov] ), c.1792T G (p.Y598D) and c.1958A C (p.Q653P).[ncbi.nlm.nih.gov] […] chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor[en.wikipedia.org] The lack of mutant mRNA is most likely the result of nonsense-mediated mRNA decay, a common fate for transcripts carrying premature termination mutations.[ncbi.nlm.nih.gov]

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