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  1. 195561
    “…Genotyping data on the IL10 polymorphism C-592A, smoking and non-steroidal anti-inflammatory drugs (NSAID) was retrieved from Vogel et al. (Mutat Res, 2007; 624:88). Incidence rate ratios (IRR) and 95% Confidence Interval (95% CI) were calculated. …”
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    Interaction between interleukin-10 (IL-10) polymorphisms and dietary fibre in relation to risk of colorectal cancer in a Danish case-cohort study
  2. 195562
    “…METHODS: The effects of mutations in the gene hclB, encoding the subunits of the histamine receptor HCLB, were studied on 1) the intensity-response (V/logI) function of electroretinographic (ERG) responses under dark adaptation, as well as under three levels of background illumination; and 2) the dynamics of the dark sensitivity recovery after short-term light adaptation. …”
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    Participation of the histamine receptor encoded by the gene hclB (HCLB) in visual sensitivity control: an electroretinographic study in Drosophila melanogaster
  3. 195563
    “…RESULTS: The various mutations tested had different effects on the specific growth rate, glucose uptake rate, and pDNA yields (Y(P/X)). …”
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    Engineering Escherichia coli to increase plasmid DNA production in high cell-density cultivations in batch mode
  4. 195564
    “…The 68/75 patients with discordant efavirenz results harboured the V179D/E mutations compared to 7/1226 with no efavirenz discrepancy (p-value <0.001). …”
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    Comparison of predicted susceptibility between genotype and virtual phenotype HIV drug resistance interpretation systems among treatment-naive HIV-infected patients in Asia: TASER-M cohort analysis
  5. 195565
    “…The identified causes of virologic failure for patients with detectable HIV RNA were: poor adherence (54%); unsuccessful retention in care (14,4%); sporadic detectable HIV RNA (40≤viral load<200), “blips” (14,4%); mutations of resistance to ARVs (13,4%); intolerance to the current regimen (2,1%) and pharmacokinetics drug interactions (1,6%). …”
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    Causes of virological failure in a population of 1895 HIV-infected patients: the experience of an infectious diseases service in Lisbon, Portugal
  6. 195566
    “…METHODS: Tumoral and metastatic samples were screened for KRAS codon 12 and 13 and BRAF mutations by SNaPshot and/or direct sequencing. Fit MCRC patients <75 years were consecutively treated with FIr-B/FOx regimen: weekly 12-h timed flat-infusion/5-fluorouracil (TFI 5-FU) 900 mg/m(2), days 1, 2, 8, 9, 15, 16, 22 and 23; irinotecan (CPT-11) 160 mg/m(2 )plus BEV 5 mg/kg, days 1, 15; oxaliplatin (OXP) 80 mg/m(2), days 8, 22; every 4 weeks. …”
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    Prognostic value of KRAS genotype in metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx) according to extension of metastatic disease
  7. 195567
    “…Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. …”
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    Brain region-specific altered expression and association of mitochondria-related genes in autism
  8. 195568
    por Kenyon, Colin P, Roth, Robyn L
    Publicado 2012
    “…RESULTS: We have demonstrated the mechanism by which the enzyme activities of Group 2 kinases, shikimate kinase (SK) and adenylate kinase 1 (AK1), are controlled by the C8-H of ATP. Mutations of the conserved threonine residues associated with the labile C8-H cause the enzymes to lose their saturation kinetics over the concentration range tested. …”
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    The role of the C8 proton of ATP in the catalysis of shikimate kinase and adenylate kinase
  9. 195569
    “…Multiple phylogenetic branches of the genus Listeria imply long common histories of strains of each lineage as revealed by a SNP-based core genome tree highlighting the impact of small mutations for the evolution of species L. monocytogenes. …”
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    Reassessment of the Listeria monocytogenes pan-genome reveals dynamic integration hotspots and mobile genetic elements as major components of the accessory genome
  10. 195570
    “…CONCLUSIONS: Although several mutations were found at a higher frequency among our population, there is a need to complement this study with functional studies and to analyze a large number of samples in different populations of different haplogroups, as penetrance varies among haplogroups.…”
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    Mitochondrial DNA nucleotide changes in primary congenital glaucoma patients
  11. 195571
    “…Next to sun exposure, the immunosuppressive regimen is an important risk factor for the development of SCC in OTRs. Various gene mutations (e.g. TP53) and genetic alterations (e.g. loss of CDKN2A, amplification of RAS) have been found in SCCs. …”
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    Molecular profiling of cutaneous squamous cell carcinomas and actinic keratoses from organ transplant recipients
  12. 195572
    “…While the mechanism driving this association is unknown, one intriguing hypothesis is that migraineurs are genetically predisposed to developing ischemic stroke. Mutations in the ATP1A2 gene are implicated in familial hemiplegic migraine type II and increase the severity of ischemic brain injury in animal models. …”
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    Polymorphisms in migraine-associated gene, atp1a2, and ischemic stroke risk in a biracial population: the genetics of early onset stroke study
  13. 195573
    “…Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. …”
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    Barth syndrome
  14. 195574
    “…Both clinical and mouse infection data support the idea that nD222 mutations contribute to increased severity of disease but additional determinants in disease outcome may be present.…”
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    A (H1N1) pdm09 HA D222 variants associated with severity and mortality in patients during a second wave in Mexico
  15. 195575
    “…The most pronounced effect on cholesterol absorption ratio was observed for serum campesterol levels (wild type controls to mutated controls 28%, P = 0.0347 and wild type controls to gallstone carriers with 19H allele 37%, P = 0.0030). …”
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    Role of the ABCG8 19H risk allele in cholesterol absorption and gallstone disease
  16. 195576
    “…Near full-length regions of the HIV-1 were evaluated for subtyping, primary drug resistance mutations. RESULTS: During the follow-up 70.1% of the recruited 378 MSM retained in the cohort. …”
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    Prospective cohort study of HIV incidence and molecular characteristics of HIV among men who have sex with men(MSM) in Yunnan Province, China
  17. 195577
    “…Pigs represent a potential host for this virus and can serve as a mixing vessel for genetic mutations of the influenza virus. Reassortant viruses eventually emerged from the 2009 pandemic and were reported in swine populations worldwide including Thailand. …”
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    Experimental infection with a Thai reassortant swine influenza virus of pandemic H1N1 origin induced disease
  18. 195578
    “…This thrombophilia represents a puzzle with multiple constituents: hyperhomocysteinemia, B12 and\or folate deficiency, methylenetetrahydrofolate reductase mutations, and protein C and S deficiency due to vitamin K deficiency. …”
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    The thrombophilic network of autoantibodies in celiac disease
  19. 195579
    por van der Zee, Julie, Gijselinck, Ilse, Dillen, Lubina, Van Langenhove, Tim, Theuns, Jessie, Engelborghs, Sebastiaan, Philtjens, Stéphanie, Vandenbulcke, Mathieu, Sleegers, Kristel, Sieben, Anne, Bäumer, Veerle, Maes, Githa, Corsmit, Ellen, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Perneczky, Robert, Diehl-Schmid, Janine, de Mendonça, Alexandre, Miltenberger-Miltenyi, Gabriel, Pereira, Sónia, Pimentel, José, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, Graff, Caroline, Chiang, Huei-Hsin, Westerlund, Marie, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Frisoni, Giovanni, Zanetti, Orazio, Bonvicini, Cristian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Heneka, Michael T, Jessen, Frank, Matej, Radoslav, Parobkova, Eva, Kovacs, Gabor G, Ströbel, Thomas, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Danek, Adrian, Arzberger, Thomas, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Santens, Patrick, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Van Broeckhoven, Christine
    Publicado 2013
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    A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
  20. 195580
    “…Monitoring the disease, emerging strains and mutations, alongside drug resistance through robust and effective surveillance is a pragmatic way forward.…”
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    Preventing the preventable through effective surveillance: the case of diphtheria in a rural district of Maharashtra, India
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