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  1. 198041
    “…Pfmdr1 haplotype N(86)F(184)S(1034)N(1042)D(1246) increased from 11.0% in 2007 to 49.6% in 2017. No resistant mutations in Pfk13 were found. Prevalence of Pfdhps-436H was lower while prevalence of Pfcrt-76 T was higher in mosquitoes than in human blood samples. …”
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    Temporal trends in molecular markers of drug resistance in Plasmodium falciparum in human blood and profiles of corresponding resistant markers in mosquito oocysts in Asembo, western Kenya
  2. 198042
    “…A small group of children, typically presenting in the first two years of life, have single-gene mutations that cause an IBD-like bowel disease and also immune system dysfunction. …”
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    The Impact of Inflammatory Bowel Disease in Canada 2018: Children and Adolescents with IBD
  3. 198043
    “…RESULTS: Expansion of iPSCs using Vertical-Wheel® bioreactors achieved 93.8-fold (IQR 30.2) growth compared to 19.1 (IQR 4.0) in 2D (p < 0.0022), the largest expansion potential reported to date over 5 days. 0.5 L Vertical-Wheel® bioreactors achieved similar expansion and further reduced iPSC production cost. 3D suspension expanded cells had increased proliferation, measured as Ki67(+) expression using flow cytometry (3D: 69.4% [IQR 5.5%] vs. 2D: 57.4% [IQR 10.9%], p = 0.0022), and had a higher frequency of pluripotency marker (Oct4(+)Nanog(+)Sox2(+)) expression (3D: 94.3 [IQR 1.4] vs. 2D: 52.5% [IQR 5.6], p = 0.0079). q-PCR genetic analysis demonstrated a lack of duplications or deletions at the 8 most commonly mutated regions within iPSC lines after long-term passaging (> 25). 2D-cultured cells displayed a primed pluripotency phenotype, which transitioned to naïve after 3D-culture. …”
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    Suspension culture improves iPSC expansion and pluripotency phenotype
  4. 198044
    por Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stéphanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe G N, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, MacKenzie Ross, Robert V, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Walsworth, Anna K, Walter, Robert E, Wharton, John, White, R James, Wilt, Jeffrey, Wort, Stephen J, Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Trégouët, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Gräf, Stefan, Nichols, William C, Trembath, Richard C, Desai, Ankit A, Morrell, Nicholas W, Wilkins, Martin R
    Publicado 2019
    “…Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by rare mutations in SOX17. Further studies are needed to confirm the association between HLA typing or rs2856830 genotyping and survival, and to determine whether HLA typing or rs2856830 genotyping improves risk stratification in clinical practice or trials. …”
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    Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
  5. 198045
    “…We identified 298 gene mutations, including 200 upregulated and 98 downregulated genes. …”
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    Identification of latent biomarkers in connection with progression and prognosis in oral cancer by comprehensive bioinformatics analysis
  6. 198046
    “…Other genetic elements, such as screening for intI1 (n = 15) (which encodes a Class 1 integron which is used as a proxy for environmental ARGs) and point mutations (n = 1) were less frequently reported. Both maps showed that research was focused towards aquatic environments. …”
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    Existing evidence on antibiotic resistance exposure and transmission to humans from the environment: a systematic map
  7. 198047
    “…Primaquine is metabolized by a highly polymorphic cytochrome P450 2D6 (CYP2D6) enzyme. Mutations in the gene encoding this enzyme may lead to impaired primaquine activity. …”
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    A single low dose of primaquine is safe and sufficient to reduce transmission of Plasmodium falciparum gametocytes regardless of cytochrome P450 2D6 enzyme activity in Bagamoyo district, Tanzania
  8. 198048
    “…CONCLUSIONS: In patients with MBM, the addition of radiotherapy resulted in a favorable OS on systemic therapy. In BRAF-mutated MBM patients, ICB as first-line therapy and BRAF+MEK as second-line therapy were associated with a significantly prolonged OS.…”
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    Impact of radiotherapy and sequencing of systemic therapy on survival outcomes in melanoma patients with previously untreated brain metastasis: a multicenter DeCOG study on 450 patients from the prospective skin cancer registry ADOREG
  9. 198049
    “…CI: 0.88–2.16, P = 0.17; the other 2 RCTs reported significantly higher DFS and OS rates in the PB group compared with the PF group, with the combined risk ratio for DFS in the PB group RR = 0.22 (95% CI:0.06–0.82, P = 0.015); the combined risk ratio for DFS in the PF group RR = 0.15 (95% CI. 0.04–0.61, P = 0.008); OS rate: PB vs PF = 0.046 vs 0.003; secondly, 2 RCTs showed that for patients with BRCA-mutated TNBC, the pCR rate in the PB and PF groups was 18% vs 26%, 95% CI: 2.4–4.2 vs 4.1–5.1; meanwhile, the median subject in the PB group The median PFS was 3.1 months (95% CI: 2.4–4.2) in the PB group and 4.4 months (95% CI: 4.1–5.1) in the PC group; finally, the results of the clinical adverse effects analysis showed that platinum-containing chemotherapy regimens significantly increased the incidence of adverse effects such as thrombocytopenia and diarrhea compared with non-platinum regimens, while the incidence of adverse effects such as vomiting, nausea, and neutropenia was reduced. …”
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    Efficacy of platinum-based and non-platinum-based drugs on triple-negative breast cancer: meta-analysis
  10. 198050
    “…Other biomarkers such as mismatch repair or tumor mutational burden should be explored in randomized trials. …”
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    Immune checkpoint inhibitors efficacy across solid cancers and the utility of PD-L1 as a biomarker of response: a systematic review and meta-analysis
  11. 198051
    “…METHODS: A mouse transferrin receptor binding nanobody, NIH-mTfR-M1, was engineered to confer greater unbinding at pH 5.5 vs 7.4 by introducing multiple histidine mutations. The histidine mutant nanobodies were coupled to neurotensin for in vivo functional blood brain barrier transcytosis testing via central neurotensin-mediated hypothermia in wild-type mice. …”
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    Enhanced in vivo blood brain barrier transcytosis of macromolecular cargo using an engineered pH-sensitive mouse transferrin receptor binding nanobody
  12. 198052
    “…Background: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder caused by mutations in the activin-A receptor type 1 (ACVR1) gene that render it responsive to activin-A, a ligand that normally antagonizes signaling from ACVR1. …”
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    THU402 New Heterotopic Ossification Lesions In Patients With Fibrodysplasia Ossificans Progressiva Measured By PET/CT vs CT Only
  13. 198053
    “…X-linked adrenoleukodystrophy (ALD) is a rare peroxisomal disorder caused by mutations in the ABCD1 gene. Little is known about the prevalence and characteristics of hypogonadism in ALD.We conducted a retrospective chart review to investigate hypogonadism in adult males with ALD. …”
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    FRI433 Hypogonadism In Males With Adrenoleukodystrophy
  14. 198054
    “…BACKGROUND: SARS-CoV-2 has changed and mutated over time. It is important to evaluate changes in clinical presentation and outcomes based on the emerging variants. …”
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    430. Clinical Features and Outcomes of COVID-19 Hospitalized Adults by Variant
  15. 198055
    “…Patients reached weeks 48 and 96 in 98.7% and 83.2% of cases, respectively, with only 16 (1.2%) virological failures but no resistance mutations. Other reasons for discontinuation comprised toxicity issues 3.3.% (44), loss to follow-up 2,8% (37), and simplification 5.0% (66). …”
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    1571. BIC/FTC/TAF in Virologically Suppressed PLWHIV: 48-96 weeks RETROBIC Multicenter Cohort study results.
  16. 198056
    “…METHODS: We assessed ResFinder, a publicly available bioinformatics tool that detects a curated set of resistance genes and point mutations, to test the utility of resistance marker presence or absence for predicting resistance/susceptibility on 107 species/drug combinations relevant for bloodstream infections. …”
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    966. Large-Scale Evaluation of AST Prediction using Resistance Marker Presence/Absence vs. Machine Learning on WGS Data
  17. 198057
    “…The previously reported yeast strain BP10001, which expresses heterologous xylose reductase from Candida tenuis in mutated (NADH-preferring) form, stands for a series of other yeast strains designed with similar rational. …”
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    Fermentation of mixed glucose-xylose substrates by engineered strains of Saccharomyces cerevisiae: role of the coenzyme specificity of xylose reductase, and effect of glucose on xylose utilization
  18. 198058
    “…We observed that the asexual P. infestans lineage EC-1 can exhibit phenotypic plasticity in the absence of apparent genetic mutations resulting in virulence on a potato carrying the Rpi-vnt1.1 gene. …”
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    Gene expression polymorphism underpins evasion of host immunity in an asexual lineage of the Irish potato famine pathogen
  19. 198059
    “…Introduction&nbsp; Alström&nbsp;syndrome (AS) is an autosomal recessive ciliopathy caused by mutations in&nbsp;ALMS1, which encodes a protein that localizes to centrosomes and basal bodies of primary cilia. …”
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    MON-LB019 Setmelanotide (RM-493) Reduces Food Intake and Rapidly Induces Weight Loss in a Mouse Model of Alström Syndrome
  20. 198060
    “…The P.a. strains initially infecting the CF lung have a nonmucoid colony morphology, whereas, once chronic infection is established, these bacteria mutate leading to the emergence of mucoid P.a. variants with heightened resistance to both antibiotics and host immunity. …”
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    2301 Mucoidal pseudomonas aeruginosa infection is associated with regional inflammation in the cystic fibrosis lung
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