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Somatic mutations can induce a noninflamed tumour microenvironment via their original gene functions, despite deriving neoantigens
BackgroundIdentifying biomarkers to predict immune checkpoint inhibitor (ICI) efficacy is warranted. Considering that somatic mutation-derived...
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Identification of phenocopies improves prediction of targeted therapy response over DNA mutations alone
DNA mutations in specific genes can confer preferential benefit from drugs targeting those genes. However, other molecular perturbations can...
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Charge-changing point mutations in the E protein of tick-borne encephalitis virus
Introduction of point mutations is one of the forces enabling arboviruses to rapidly adapt in a changing environment. The influence of these...
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A descriptive study on isoniazid resistance-associated mutations, clustering and treatment outcomes of drug-resistant tuberculosis in a high burden country
PurposeTo describe katG and inhA mutations, clinical characteristics, treatment outcomes and clustering of drug-resistant tuberculosis (TB) in the...
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Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
Spinocerebellar ataxia, autosomal recessive-17 (SCAR17) is a rare hereditary ataxia characterized by ataxic gait, cerebellar signs and occasionally...
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Rapid emergence and transmission of virulence-associated mutations in the oral poliovirus vaccine following vaccination campaigns
There is an increasing burden of circulating vaccine-derived polioviruses (cVDPVs) due to the continued use of oral poliovirus vaccine (OPV)....
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Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Biallelic KARS1 mutations cause KARS-related diseases, a rare syndromic condition encompassing central and peripheral nervous system impairment,...
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Intrinsic D614G and P681R/H mutations in SARS-CoV-2 VoCs Alpha, Delta, Omicron and viruses with D614G plus key signature mutations in spike protein alters fusogenicity and infectivity
The SARS-CoV-2 virus has been rapidly evolving over the time and the genetic variation has led to the generation of Variants of Concerns (VoC), which...
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Naturally occurring spike mutations influence the infectivity and immunogenicity of SARS-CoV-2
Mutations in SARS-CoV-2 variants of concern (VOCs) have enhanced transmissibility and immune evasion with respect to current vaccines and...
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Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations
The human SET nuclear proto-oncogene ( SET ) gene is a protein-coding gene that encodes proteins that affects chromatin remodeling and gene...
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SNPs and Personalized Medicine: Scrutinizing Pathogenic Synonymous Mutations for Precision Oncology
Synonymous mutations do not modify the encoded amino acid, but might result in serious non-silent consequences through different molecular...
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KDM4C-mediated senescence defense is a targetable vulnerability in gastric cancer harboring TP53 mutations
BackgroundGastric cancer patients harboring a TP53 mutation exhibit a more aggressive and chemoresistant phenotype. Unfortunately, efforts to...
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STAT5a and SH2B3 novel mutations display malignancy roles in a triple-negative primary myelofibrosis patient
Primary myelofibrosis (PMF) patients frequently have JAK2 (V617F) , CALR (exon 9), or MPL (W515 or exon 10) strong driver gene mutation, which...
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Mutations in the S gene of hepatitis B virus in three generations of patients with chronic hepatitis B
Failure to neutralize HBsAg and subsequent escape from the host immune system may be caused by HBsAg mutations, particularly in the "a" determinant,...
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TP53 somatic mutations in Asian breast cancer are associated with subtype-specific effects
BackgroundRecent genomics studies of breast cancer in Asian cohorts have found a higher prevalence of TP53 mutations in Asian breast cancer patients...
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Upregulated ECM genes and increased synaptic activity in Parkinson’s human DA neurons with PINK1/ PRKN mutations
Parkinson’s disease (PD) is the second most prevalent neurodegenerative disease. Primary symptoms of PD arise with the loss of dopaminergic (DA)...
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Analysis of somatic mutations in whole blood from 200,618 individuals identifies pervasive positive selection and novel drivers of clonal hematopoiesis
Human aging is marked by the emergence of a tapestry of clonal expansions in dividing tissues, particularly evident in blood as clonal hematopoiesis...
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Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis
PiT2 is an inorganic phosphate (Pi) transporter whose mutations are linked to primary familial brain calcification (PFBC). PiT2 mainly consists of...
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Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan
BackgroundCancer susceptibility germline mutations are associated with pancreatic ductal adenocarcinoma (PDAC). However, the hereditary status of...
