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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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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... -
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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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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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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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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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,... -
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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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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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...
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De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data
Identifying expressed somatic mutations from single-cell RNA sequencing data de novo is challenging but highly valuable. We propose RESA –...
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Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer
Somatic PTEN mutations are common and have driver function in some cancer types. However, in colorectal cancers (CRCs), somatic PTEN -inactivating...
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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...