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  1. 194121
    “…RESULTS: Between January 2010 and January 2016, 144 LS patients were consecutively included (male/female = 50/94, mean age = 51 ± 13 years and mutations: MLH1 = 39%, MSH2 = 44%, MSH6 = 15%, PMS2 = 1%). …”
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    Impact of an optimized colonoscopic screening program for patients with Lynch syndrome: 6-year results of a specialized French network
  2. 194122
    “…Approximately 33% of patients with non-small cell lung cancer (NSCLC) tumors and epidermal growth factor receptor mutations develop BMs, which are targetable with different generations of tyrosine kinase inhibitors (TKIs: gefitinib, erlotinib, afatinib, icotinib, and osimertinib). …”
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    Mechanisms and Therapy for Cancer Metastasis to the Brain
  3. 194123
    “…The same result was observed with a GFP::PCN-1 fusion protein expressed from a transgene. pcn-1 loss-of-function mutations were analyzed, and pcn-1 was necessary for robust fertility and embryonic development. …”
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    Cell cycle accumulation of the proliferating cell nuclear antigen PCN-1 transitions from continuous in the adult germline to intermittent in the early embryo of C. elegans
  4. 194124
    “…ABSTRACT: Understanding the roles of ion currents is crucial to predict the action of pharmaceuticals and mutations in different scenarios, and thereby to guide clinical interventions in the heart, brain and other electrophysiological systems. …”
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    Sinusoidal voltage protocols for rapid characterisation of ion channel kinetics
  5. 194125
    “…Brains from different transgenic strains and ages developed overt cerebral Aβ deposition, including the β-amyloid precursor protein and presenilin 1 double-transgenic (APP/PS1) mice at ~ 14 months of age, the five familial Alzheimer’s disease mutations transgenic (5×FAD) mice at ~ 8 months, the triple-transgenic Alzheimer’s disease (3×Tg-AD) mice at ~ 22 months, and aged monkeys (Macaca mulatta and Macaca fascicularis) were examined. …”
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    Lack of human-like extracellular sortilin neuropathology in transgenic Alzheimer’s disease model mice and macaques
  6. 194126
    “…In the present study A549 cells were treated with the DNA-PK inhibitor NU7026 and/or siRNA directed against ataxia telangiectasia mutated (ATM), followed by exposure to 4 Gy X-ray irradiation. …”
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    Inhibition of DNA-PK activity sensitizes A549 cells to X-ray irradiation by inducing the ATM-dependent DNA damage response
  7. 194127
    “…We identified favorable mutations based on structural comparison of homologous phytases and molecular dynamics simulations. …”
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    Enhancing thermal tolerance of Aspergillus niger PhyA phytase directed by structural comparison and computational simulation
  8. 194128
    “…No monoclonal components were identified, and genetic tests exclude mutations including Bcr/Abl, JAK2 V617F, c-KIT D816V, and FIP1L1-PDGFRA. …”
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    Efficacy and Safety of Mepolizumab (Anti-Interleukin-5) Treatment in Gleich’s Syndrome
  9. 194129
    “…Over expression of peptides in vivo led to sensitivity to a microtubule poison and, in a recovery from a microtubule poison arrest, delayed degradation of yeast Securin protein Precocious Dissociation of Sisters 1 (Pds1). Peptides with mutations in the Cdc20 activating KILR-motif still bound APC/C, but lost the ability to inhibit APC/C in vitro and lost the ability to induce sensitivity to a microtubule poison in vivo. …”
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    Peptide inhibitors of the anaphase promoting-complex that cause sensitivity to microtubule poison
  10. 194130
    “…This study aimed to investigate whether there is a consistent pattern of MRI changes in patients with LMNA mutations in various muscle subtypes. METHODS: Twenty-two patients with LMNA-related muscular dystrophies were enrolled in this study. …”
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    Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy
  11. 194131
    “…Analysis by flow cytometry and fluorescence microscopy of various null mutations of genes involved in biological processes activated by the pheromone pathway (the mitogen-activated protein kinase pathway, cell cycle arrest, cell proliferation, autophagy, calcium influx) showed that IP-1 requires arrest in G(0)/G(1) in order to kill yeast cells. …”
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    An Antimicrobial Peptide Induces FIG1-Dependent Cell Death During Cell Cycle Arrest in Yeast
  12. 194132
    “…Defects in the mtDNA replication machinery and failure in the repair of mtDNA might result in the accumulation of mutations, leading to mitochondrial dysfunction and bioenergetic failure of the cell. …”
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    Mitochondria, Oxidative Stress and the Kynurenine System, with a Focus on Ageing and Neuroprotection
  13. 194133
    por Hsu, Kate
    Publicado 2018
    “…Our understanding of its physiological functions mainly came from clinical cases associated with band 3 mutations. Severe reduction in band 3 expression affects blood HCO(3)(—)/CO(2) metabolism. …”
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    Exploring the Potential Roles of Band 3 and Aquaporin-1 in Blood CO(2) Transport–Inspired by Comparative Studies of Glycophorin B-A-B Hybrid Protein GP.Mur
  14. 194134
    “…Recombinant SliC completely abrogated the lytic activity of human and chicken c-type lysozymes, showing a preference towards human lysozyme with an IC(50) of 1.85 μM and calculated K(D) value of 9.2 ± 1.9 μM. In contrast, mutated SliC bearing S83A and K103A substitutions failed to protect fluorescein-labeled cell-wall from lysozyme-mediated hydrolysis. …”
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    SliC is a surface-displayed lipoprotein that is required for the anti-lysozyme strategy during Neisseria gonorrhoeae infection
  15. 194135
    “…The tools Polymorphism Phenotyping, Sorting Intolerant From Tolerant (SIFT), Predict the pathology of Mutations (PMUT), Human Mitochondrial Genome Database (mtDB), Multiple Alignment using Fast Fourier Transform (MAFFT), and Mammalian Mitochondrial tRNA Genes (Mamit-tRNA) were used to evaluate pathogenicity of alleles. …”
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    Next-generation sequencing profiling of mitochondrial genomes in gout
  16. 194136
    “…In addition, this BH3-like domain was involved in antiapoptosis and drug-induced autophagy in glioma cell lines. Mutations in S156 and hydrophobic L213 to alanine counteracted the antiapoptotic properties of BCL2L12 and downregulated the activation of microtubule associated protein 1 light chain 3B (LC3B), autophagy-related (ATG)12-ATG5 conjugates and Beclin-1, compared with a BCL2L12 wild-type group. …”
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    GSK3β-mediated Ser156 phosphorylation modulates a BH3-like domain in BCL2L12 during TMZ-induced apoptosis and autophagy in glioma cells
  17. 194137
    “…Moreover, AgBSF administered intraperitoneally to transgenic mice with five familial Alzheimer’s disease mutations (5XFAD) via an osmotic mini pump for 6 weeks (wk) ameliorated β-amyloid plaques and reversed cognitive impairment measures. …”
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    Human Umbilical Cord Blood Serum–derived α-Secretase: Functional Testing in Alzheimer’s Disease Mouse Models
  18. 194138
    “…BACKGROUND: Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases. …”
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    Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations
  19. 194139
    “…Polg is the only mitochondrial DNA polymerase and mutations in Polg cause mitochondrial diseases in humans. …”
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    Inflammation-induced DNA methylation of DNA polymerase gamma alters the metabolic profile of colon tumors
  20. 194140
    “…BACKGROUND & AIMS: Oncogenic mutations in KRAS, coupled with inactivation of p53, CDKN2A/p16(INK4A), and SMAD4, drive progression of pancreatic ductal adenocarcinoma (PDA). …”
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    E47 Governs the MYC-CDKN1B/p27(KIP1)-RB Network to Growth Arrest PDA Cells Independent of CDKN2A/p16(INK4A) and Wild-Type p53
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