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Small extrachromosomal circular DNA harboring targeted tumor suppressor gene mutations supports intratumor heterogeneity in mouse liver cancer induced by multiplexed CRISPR/Cas9
BackgroundPrimary liver cancer has significant intratumor genetic heterogeneity (IGH), which drives cancer evolution and prevents effective cancer...
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The endoplasmic reticulum (ER): a crucial cellular hub in flavivirus infection and potential target site for antiviral interventions
Dengue virus (DENV) is the most prevalent arthropod-borne flavivirus and imposes a significant healthcare threat worldwide. At present no...
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JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences
The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in development, immunity, and tumorigenesis for nearly any...
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In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene
Paired homologous domain transcription factor 2 (PITX2) is critically involved in ocular and cardiac development. Mutations in PITX2 are consistently...
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Decoding Dystrophin Gene Mutations: Unraveling the Mysteries of Muscular Dystrophy
Muscular dystrophies are a group of human monogenic disorders causing muscle weaknesses and affecting mobility. Mutations in different genes cause...
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Activation-induced cytidine deaminase causes recurrent splicing mutations in diffuse large B-cell lymphoma
Diffuse large B-cell lymphoma (DLBCL) is the most common lymphoma. A major mutagenic process in DLBCL is aberrant somatic hypermutation (aSHM) by...
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Single duplex DNA sequencing with CODEC detects mutations with high sensitivity
Detecting mutations from single DNA molecules is crucial in many fields but challenging. Next-generation sequencing (NGS) affords tremendous...
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Major genomic mutations driving hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is a subtype of highly malignant carcinoma that occurs in the liver, improved understanding of the mechanisms behind...
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Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
BackgroundTo report newly found TSPAN12 mutations with a unique form of familial exudative vitreoretinopathy (FEVR) and find out the possible...
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Structure-Based Affinity Maturation of Antibody Based on Double-Point Mutations
Structure-based site-directed affinity maturation of antibodies can be expanded by multiple-point mutations to obtain various mutants. However,...
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A Comprehensive Overview of NF1 Mutations in Iranian Patients
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high...
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Methods and applications of genome-wide profiling of DNA damage and rare mutations
DNA damage is a threat to genome integrity and can be a cause of many human diseases, owing to either changes in the chemical structure of DNA or...
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Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations
Mutations in genes of the DNA polymerase complex have been linked to impaired immunological function next to distinct syndromic features. Biallelic...
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Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications
Idiopathic congenital nystagmus (ICN) manifests as involuntary and periodic eye movements. To identify the genetic defect associated with X-linked...
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Pan-cancer atlas of somatic core and linker histone mutations
Recent genomic data points to a growing role for somatic mutations altering core histone and linker histone-encoding genes in cancer. However, the...
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IDH mutations in G2-3 conventional central bone chondrosarcoma: a mono institutional experience
BackgroundHeterozygous isocitrate dehydrogenase ( IDH ) mutations occur in about half of conventional central bone chondrosarcomas (CCBC). Aim of this...
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kdr mutations and deltamethrin resistance in house flies in Abu Dhabi, UAE
BackgroundThe house fly, Musca domestica , is a significant carrier of diseases that can impact public health. Repeated use of pyrethroid...
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Estrogen Receptor Alpha and ESR1 Mutations in Breast Cancer
The estrogen receptor alphaEstrogen receptor alpha (ERĪ±) is a nuclear transcriptionTranscription factor that is expressed in more than 70% of all...
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Global landscape of SARS-CoV-2 mutations and conserved regions
BackgroundAt the end of December 2019, a novel strain of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) disease (COVID-19) has been...
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SARS-CoV-2: analysis of the effects of mutations in non-structural proteins
A worldwide pandemic that started in China in late 2019 was caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a single-stranded...
