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  1. 196721
    “…Examination of whole cell currents from cells expressing mutated versions of gp91-phox suggest that: (a) voltage as well as arachidonate sensitivity was retained by cells with only the NH(2)-terminal 230 amino acids, (b) histidine residues at positions 111, 115, and 119 on a putative membrane-spanning helical region of the protein contribute to H(+) permeation, (c) histidine residues at positions 111 and 119 may contribute to voltage gating, (d) the histidine residue at position 115 is functionally important for H(+) selectivity. …”
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    Evidence That the Product of the Human X-Linked Cgd Gene, Gp91-phox, Is a Voltage-Gated H(+) Pathway
  2. 196722
    “…Previous studies have shown that bovine crystallins form amyloid fibers under denaturing conditions and amyloid fibers accumulate in the lens of mice carrying mutations in crystallin genes. Within differentiating lens fiber cells, crystallins may be exposed to low pH lysosome compartments. …”
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    Formation of amyloid fibrils in vitro by human γD-crystallin and its isolated domains
  3. 196723
    por Pan, Yong, Weinman, Edward J, Le Dai, Jia
    Publicado 2008
    “…INTRODUCTION: The gene encoding Na(+)/H(+ )exchanger regulatory factor 1 (NHERF1) is a putative tumor suppressor gene that harbors frequent loss of heterozygosity (LOH) and intragenic mutations in breast carcinoma. The exact biologic activity of NHERF1 in mammary glands, however, remains unclear. …”
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    Na(+)/H(+ )exchanger regulatory factor 1 inhibits platelet-derived growth factor signaling in breast cancer cells
  4. 196724
    “…In an ongoing Phase I clinical trial, a recombinant protein comprised of circularly permuted IL-4 fused to a mutated form of Pseudomonas exotoxin (the fusion protein termed IL-4(38-37)-PE38KDEL or cpIL4-PE) has shown antitumour activity against malignant glioma. …”
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    IL-4 receptors on human medulloblastoma tumours serve as a sensitive target for a circular permuted IL-4-Pseudomonas exotoxin fusion protein
  5. 196725
    “…More importantly, similar results were also observed in cells transfected with this set of 4.1R cDNAs. Mutational studies indicated that the short isoforms were not proteolytic products of the long isoforms but products synthesized from AUG2. …”
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    An internal ribosome entry site element directs the synthesis of the 80 kDa isoforms of protein 4.1R
  6. 196726
    “…Germline mutations of the tumour suppressor gene BRCA1 are involved in the predisposition and development of breast cancer and account for 20–45% of all hereditary cases. …”
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    BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells
  7. 196727
    “…Tnfaip3 was selected for phenotypic testing due to differential expression and the presence of two nonsynonymous mutations. However, when ONL thickness was compared in eight-month-old congenic Tnfaip3(+/−) and Tnfaip3(+/+) mice, no differences were found, suggesting that Tnfaip3 is not the quantitative trait gene (QTG) for the Chr 10 QTL. …”
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    Candidate genes for chromosomes 6 and 10 quantitative trait loci for age-related retinal degeneration in mice
  8. 196728
    “…CONCLUSIONS: A PRRSV susceptible cell line was constructed that can grow virus to similar levels compared to currently available cell lines. Mutations induced by growth on this cell lines were either absent or minimal and located outside known neutralizing epitopes. …”
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    Susceptible cell lines for the production of porcine reproductive and respiratory syndrome virus by stable transfection of sialoadhesin and CD163
  9. 196729
    “…Monogenic forms of DCM are observed in families with mutations located mostly in genes encoding structural and sarcomeric proteins. …”
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    Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy
  10. 196730
    “…A promising approach for the identification of essential cardiac regulators whose mutations may be linked to human CHD, is the molecular and genetic analysis of heart development. …”
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    Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist
  11. 196731
    “…Most GISTs are caused by mutations in the KIT receptor, leading to upregulated KIT tyrosine kinase activity. …”
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    Preclinical evaluation of KIT/PDGFRA and mTOR inhibitors in gastrointestinal stromal tumors using small animal FDG PET
  12. 196732
    “…Although infection in humans with H5N1 remains rare, human cases continue to be reported and H5N1 is now considered endemic among poultry in parts of Asia and in Egypt, providing opportunities for additional human infections and for the acquisition of virus mutations that may lead to more efficient spread among humans and other mammalian species. …”
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    Highly Pathogenic Avian Influenza (H5N1): Pathways of Exposure at the Animal‐Human Interface, a Systematic Review
  13. 196733
    “…BACKGROUND: The Ouabain and Adducin for Specific Intervention on Sodium in Hypertension (OASIS-HT) Trial was a phase-2 dose-finding study of rostafuroxin, a digitoxygenin derivative, which selectively antagonizes the effects of endogenous ouabain (EO) on Na(+),K(+)-ATPase and mutated adducin. Rostafuroxin lowered blood pressure (BP) in some animal models and in humans. …”
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    Main results of the Ouabain and Adducin for Specific Intervention on Sodium in Hypertension Trial (OASIS-HT): a randomized placebo-controlled phase-2 dose-finding study of rostafuroxin
  14. 196734
    “…Recently, it was shown that NK cell-mediated immune pressure can result in the selection of HIV-1 escape mutations. A potential mechanism for this NK cell escape is the selection of HLA class I-presented HIV-1 epitopes that allow for the engagement of inhibitory killer cell immunoglobulin-like receptors (KIRs), notably KIR2DL2. …”
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    HLA-Cw*0102-Restricted HIV-1 p24 Epitope Variants Can Modulate the Binding of the Inhibitory KIR2DL2 Receptor and Primary NK Cell Function
  15. 196735
    “…Moreover, we established stable gastric cancer cell lines overexpressing wild-type HB-EGF (wt-HB-EGF) and mutated HB-EGF (HB-EGF-mC), which prevented HB-EGF-C nuclear translocation after shedding. …”
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    Nuclear translocation of the cytoplasmic domain of HB-EGF induces gastric cancer invasion
  16. 196736
    por Brown, Sherry-Ann, Loew, Leslie M
    Publicado 2012
    “…BACKGROUND: Mutations in the smooth endoplasmic reticulum (sER) calcium channel Inositol Trisphosphate Receptor type 1 (IP3R1) in humans with the motor function coordination disorders Spinocerebellar Ataxia Types 15 and 16 (SCA15/16) and in a corresponding mouse model, the IP3R1(delta18/delta18) mice, lead to reduced IP3R1 levels. …”
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    Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia
  17. 196737
    “…In this video, we employ a novel methodology that uses an error-prone DNA polymerase followed by an optimized screening process using a 96 well microtiter plate format to identify mutations to the PlyCA subunit of the PlyC streptococcal endolysin that correlate to an increase in enzyme kinetic stability (Figure 1). …”
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    A New Screening Method for the Directed Evolution of Thermostable Bacteriolytic Enzymes
  18. 196738
    “…Constitutive and leaf primodium-specific expression of a miR156-insensitive (mutated) SPL15 (SPL15m) largely restored WT seed carotenoid levels and plant morphology when expressed in sk156. …”
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    Arabidopsis mutant sk156 reveals complex regulation of SPL15 in a miR156-controlled gene network
  19. 196739
    “…Using bioinformatics tools and databases, we identified the most comprehensive list of CP genes (n = 322) in which mutations cause CP either in humans or mice, and analyzed their expression patterns. …”
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    Systematic analysis of palatal transcriptome to identify cleft palate genes within TGFβ3-knockout mice alleles: RNA-Seq analysis of TGFβ3 Mice
  20. 196740
    “…METHODS AND FINDINGS: Fresh-frozen primary tumor samples from a large multicenter cohort of 750 patients with stage I to IV CC who underwent surgery between 1987 and 2007 in seven centers were characterized for common DNA alterations, including BRAF, KRAS, and TP53 mutations, CpG island methylator phenotype, mismatch repair status, and chromosomal instability status, and were screened with whole genome and transcriptome arrays. 566 samples fulfilled RNA quality requirements. …”
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    Gene Expression Classification of Colon Cancer into Molecular Subtypes: Characterization, Validation, and Prognostic Value
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