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  1. 195941
    “…METHODS: Twelve patients with AKR1D1 deficiency, confirmed by fast atom bombardment ionization-mass spectrometry analysis of urine and by gene sequencing for mutations in AKR1D1, were treated with differing doses of CDCA or ursodeoxycholic acid (UDCA). …”
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    Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes
  2. 195942
    “…Progesterone receptor (PR) expression is found to be consistent with ER expression and mutations in the BRCA1 gene, a tumor-suppressor gene, are known to be responsible for about 40%–45% of hereditary breast cancers. …”
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    The antiestrogenic effects of black cohosh on BRCA1 and steroid receptors in breast cancer cells
  3. 195943
    “…The acute antiviral response is mediated by a family of interferon-stimulated genes (ISGs), providing cell-intrinsic immunity. Mutations in genes encoding these proteins are often associated with increased susceptibility to viral infections. …”
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    Interferon-Induced Transmembrane Protein 1 Restricts Replication of Viruses That Enter Cells via the Plasma Membrane
  4. 195944
    “…BACKGROUND: The tumor suppressor protein phosphatase and tensin homolog (PTEN) is a key regulator of the PI3K/AKT pathway which is frequently altered in a variety of tumors including a subset of acute B-lymphoblastic leukemias (B-ALL). While PTEN mutations and deletions are rare in B-ALL, promoter hypermethylation and posttranslational modifications are the main pathways of PTEN inactivation. …”
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    Combined Casein Kinase II inhibition and epigenetic modulation in acute B-lymphoblastic leukemia
  5. 195945
    “…Individuals with the same causal CFTR mutations show variable disease presentation which is partly attributed to modifier genes. …”
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    Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci
  6. 195946
    “…Joint analysis using lumosVar 2.0 detected several variants, including known cancer hotspot mutations that were not detected by standard somatic variant calling tools using the adjacent tissue as presumed normal reference. …”
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    Leveraging Spatial Variation in Tumor Purity for Improved Somatic Variant Calling of Archival Tumor Only Samples
  7. 195947
    “…Wild type GsCLC-c2, but not its mutants (S184P, E227V and E294G) with mutations in the conserved domains, is able to complement Saccharomyces cerevisiae △gef1 Cl(−) sensitive phenotype. …”
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    Identification and functional characterization of the chloride channel gene, GsCLC-c2 from wild soybean
  8. 195948
    “…However, due to an aberrant activation of mTOR in response to Akt inhibition in PTEN mutated cells, the therapeutic window needs to be carefully defined, or a combination of Akt and mTOR inhibitors should be considered. …”
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    Differential effects of the Akt inhibitor MK-2206 on migration and radiation sensitivity of glioblastoma cells
  9. 195949
    “…This was associated with a reduction of Ataxia Telangiectasia Mutated (ATM) activation by etoposide, indicating a profound dampening of the DNA damage signalling in hypoxic conditions. …”
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    Decrease of Nibrin expression in chronic hypoxia is associated with hypoxia-induced chemoresistance in some brain tumour cells
  10. 195950
    “…RESULTS: We performed mutational analysis of residues that have been proposed to mediate CA binding at the secondary binding site on CypA (A25, K27, P29 and K30) and tested the effects of the amino acid substitutions using interaction assays and HIV-1 infection assays in cells. …”
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    Functional analysis of the secondary HIV-1 capsid binding site in the host protein cyclophilin A
  11. 195951
    “…How PEDV suppresses the innate immune response was unknown. We found that mutating a viral endoribonuclease, EndoU, results in a virus that activates both the type I interferon response and the type III interferon response in macrophages and epithelial cells. …”
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    Coronavirus Endoribonuclease Activity in Porcine Epidemic Diarrhea Virus Suppresses Type I and Type III Interferon Responses
  12. 195952
    “…With a 2000:271,132 (true sites:false sites) training set, χ(2)-DT achieves the highest independent test accuracy (93.34%) when compared with three classifiers (random forest, artificial neural network, and relaxed variable kernel density estimator) and takes a short computation time (89 s). χ(2)-DT also exhibits good independent test accuracy (92.40%), when validated with BG-570 mutated sequences with frameshift errors (nucleotide insertions and deletions). …”
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    A high-performance approach for predicting donor splice sites based on short window size and imbalanced large samples
  13. 195953
    “…New mutants putatively altered in brassinosteroid synthesis or perception, mutations determining multiple pleiotropic effects, lines affected in organ curvature, and the first tomato mutant with helical growth were discovered. …”
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    Phenotypic and genetic characterization of tomato mutants provides new insights into leaf development and its relationship to agronomic traits
  14. 195954
    “…Charcot-Marie-Tooth disease type 4C is the most common recessively inherited demyelinating neuropathy that results from loss of function mutations in the SH3TC2 gene. Sh3tc2(−/−) mice represent a well characterized disease model developing early onset progressive peripheral neuropathy with hypo- and demyelination, slowing of nerve conduction velocities and disturbed nodal architecture. …”
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    Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy
  15. 195955
    “…OBJECTIVE: To assess the feasibility of identifying potentially actionable mutations using next-generation sequencing–based assays in a clinically relevant time frame. …”
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    Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers
  16. 195956
    “…Simulations also demonstrated that our new model gives better results to overcome a critical primary infection answering the paradox “how can a tiny fraction of human genome effectively compete with a vastly larger pool of mutating pathogen DNA?” CONCLUSION: The outcomes of our in silico experiments, presented here, are supported by numerous clinical trial observations from the field of immunotherapy. …”
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    MiStImm: an agent-based simulation tool to study the self-nonself discrimination of the adaptive immune response
  17. 195957
    por Zhao, Yilin, Zheng, Deyou, Cvekl, Ales
    Publicado 2019
    “…Together, our data and models open new avenues for the field to conduct mechanistic studies of transcriptional control regions, reconstruction of gene regulatory networks that govern lens morphogenesis, and identification of cataract-causing mutations in noncoding sequences. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13072-019-0272-y) contains supplementary material, which is available to authorized users.…”
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    Profiling of chromatin accessibility and identification of general cis-regulatory mechanisms that control two ocular lens differentiation pathways
  18. 195958
    “…We also undertook molecular characterisation to look at the diversity of the viruses circulating in these individuals, and the presence of clinically significant mutations which impact on treatment and control. Blood-borne virus (BBV) testing in non-traditional settings is feasible, with emergency departments (ED) potentially effective at reaching vulnerable and underserved populations. …”
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    Seroprevalence of HCV, HBV and HIV in two inner-city London emergency departments
  19. 195959
    “…Moreover, this effect of VRK1 is independent of TP53 or ATM, two genes frequently mutated in cancer. CONCLUSION: The protective DNA damage response induced by ionizing radiation is impaired by the combination of olaparib with depletion of VRK1, and can be used to reduce doses of radiation and their associated toxicity. …”
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    Olaparib and ionizing radiation trigger a cooperative DNA-damage repair response that is impaired by depletion of the VRK1 chromatin kinase
  20. 195960
    “…Less than 10% of the mutated genes were identified as affecting in vivo fitness, they included genes encoding known mycobacterial virulence functions such as mycobactin synthesis, sugar transport, reductive sulphate assimilation, PDIM synthesis and cholesterol metabolism. …”
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    Transposon libraries identify novel Mycobacterium bovis BCG genes involved in the dynamic interactions required for BCG to persist during in vivo passage in cattle
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