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Diseases associated with mutations in the filamin A gene (FLNA) [Заболевания, ассоциированные с мутациями в гене филамина А (FLNA)]The article presents literature review of the diseases associated with mutations in the FLNA gene
BRCA mutations lead to XIAP overexpression and sensitise ovarian cancer to inhibitor of apoptosis (IAP) family inhibitors-linked inhibitor of apoptosis (XIAP) is increased in BRCA1-mutated cancers and high levels are associated
Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia in the ATL1 gene, is one of the most common forms of HSP in European populations. Analysis of the ATL1 gene
Excessive G-U transversions in novel allele variants in SARS-CoV-2 genomes insights into SARS-CoV-2 adaptations, determinants of pathogenicity and mutation patterns. A comparison
Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review shown that a mutation (c.-14C>T) in the IFITM5 gene is responsible for autosomal dominant OI type V
Therapeutic editing of the TP53 gene: Is crispr/CAS9 an option?.g., mutations of the TP53 gene) negatively affect these pathways resulting in tumor development. Recent advances
Emergency services of viral RNAs: Repair and remodeling robustness or mutational tolerance, which is largely due to the functional degeneracy of many protein and RNA
Testing Genes Implicated in the Novel Case of Familial Hemiplegic Migraine to determine disease genetic markers in these cases, we sequenced several genes (CACNA1A, ATP1A2, and SCN1A
Identification of the KRIT1 protein by LexA-based yeast two-hybrid system and seizures. Germline or sporadic mutations in the CCM1/KRIT1 gene are responsible for the majority of cases
Gene editing by extracellular vesicles, regulate transcription, and correct mutations in DNA and RNA have been devised. However, practical
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