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Application of CRISPR/Cas9-based mutant enrichment technique to improve the clinical sensitivity of plasma EGFR testing in patients with non-small cell lung cancer
BackgroundApproximately 50%–60% of secondary resistance to primary EGFR - tyrosine kinase inhibitors (TKI) therapy is caused by acquired p.Thr790Met...
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Effect of brain radiotherapy strategies on prognosis of patients with EGFR-mutant lung adenocarcinoma with brain metastasis
PurposeEpidermal growth factor receptor ( EGFR )-mutant lung cancers have a high risk of develo** brain metastases (BM). Whole brain radiotherapy...
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The 3' end of the coding region of senecavirus A contains a highly conserved sequence that potentially forms a stem-loop structure required for virus rescue
Senecavirus A (SVA) can cause a vesicular disease in swine. It is a positive-strand RNA virus belonging to the genus Senecavirus in the family Picornaviridae...
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Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide
Expansions of a G 4 C 2 repeat in the C9ORF72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia...
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Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation
Voltage-gated L-type Cav1.3 Ca 2+ channels support numerous physiological functions including neuronal excitability, sinoatrial node pacemaking,...
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Clinical and prognostic features of patients with detailed RAS/BRAF-mutant colorectal cancer in Japan
BackgroundRAS /BRAF V600E mutations are the most remarkable oncogenic driver mutations in colorectal cancer (CRC) and play an important role in...
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Multiparametric and accurate functional analysis of genetic sequence variants using CRISPR-Select
Determining the functional role of thousands of genetic sequence variants (mutations) associated with genetic diseases is a major challenge. Here we...
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Chemoprophylaxis vaccination with a Plasmodium liver stage autophagy mutant affords enhanced and long-lasting protection
Genetically attenuated sporozoite vaccines can elicit long-lasting protection against malaria but pose risks of breakthrough infection....
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Impact of the sickle mutant and temperature on the structure of transcripts and RNAs from Arabidopsis thaliana
ObjectivesThe objective of this data set was to identify how interaction between temperature and the sickle-3 ( sic-3 ) mutant alters the global...
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Fine-map** the immunodominant antibody epitopes on consensus sequence-based HIV-1 envelope trimer vaccine candidates
The HIV-1 envelope glycoprotein (Env) trimer is the key target for vaccines aimed at inducing neutralizing antibodies (NAbs) against HIV-1. The...
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Derivation and characterization of an HIV-1 mutant that rescues IP6 binding deficiency
BackgroundA critical step in the HIV-1 replication cycle is the assembly of Gag proteins to form virions at the plasma membrane. Virion assembly and...
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The CACNA1A Mutant Disrupts Lysosome Calcium Homeostasis in Cerebellar Neurons and the Resulting Endo-Lysosomal Fusion Defect Can be Improved by Calcium Modulation
Mutations in P/Q type voltage gated calcium channel (VGCC) lead severe human neurological diseases such as episodic ataxia 2, familial hemiplegic...
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Detection of structural and conformational changes in ALS-causing mutant profilin-1 with hydrogen/deuterium exchange mass spectrometry and bioinformatics techniques
The hydrogen/deuterium exchange (HDX) is a reliable method to survey the dynamic behavior of proteins and epitope map**. Matrix-Assisted Laser...
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Identification of the minimal active soluble TREM2 sequence for modulating microglial phenotypes and amyloid pathology
BackgroundTREM2 is a microglial receptor genetically linked to the risk for Alzheimer’s disease (AD). The cerebrospinal fluid (CSF) levels of soluble...
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Endothelial hyperactivation of mutant MAP3K3 induces cerebral cavernous malformation enhanced by PIK3CA GOF mutation
Cerebral cavernous malformations (CCMs) refer to a common vascular abnormality that affects up to 0.5% of the population. A somatic gain-of-function...
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High frequency of PDGFRA and MUC family gene mutations in diffuse hemispheric glioma, H3 G34-mutant: a glimmer of hope?
BackgroundDiffuse hemispheric glioma H3 G34-mutant (G34-DHG) is a new type of pediatric-type diffuse high-grade glioma in the fifth edition of the...
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Whole genome sequence analysis of bacteriophage P1 that infects the Lactobacillus plantarum
Phage P1 was isolated from the abnormal fermented liquid using Lactobacillus plantarum ( L. plantarum ) IMAU10120. To date, genetic knowledge regarding L...
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Variation in the vulnerability of mice expressing human superoxide dismutase 1 to prion-like seeding: a study of the influence of primary amino acid sequence
Misfolded forms of superoxide dismutase 1 (SOD1) with mutations associated with familial amyotrophic lateral sclerosis (fALS) exhibit prion...
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WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins
Missense variants located in the N-terminal region of WDR37 were recently identified to cause a multisystemic syndrome affecting neurological,...
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Mutant NPM1-regulated lncRNA HOTAIRM1 promotes leukemia cell autophagy and proliferation by targeting EGR1 and ULK3
BackgroundAcute myeloid leukemia (AML) with mutated nucleophosmin (NPM1), which displays a distinct long noncoding RNA (lncRNA) expression profile,...
