Results 11 to 20 of about 202,059 (264)
Inappropriate interpretation of non‐pathogenic HTRA1 variant as pathogenic
Annals of Clinical and Translational Neurology, 2023 Masahiro Uemura +6 more
doaj +3 more sources
Investigating the OXA Variants of ESKAPE Pathogens [PDF]
Antibiotics, 2021 ESKAPE pathogens are the leading cause of nosocomial infections. The Global Priority List of WHO has categorized ESKAPE as priority 1 and 2 pathogens. Even though several mechanisms contribute to antimicrobial resistance, OXA β-lactamase has emerged as a new threat in combating nosocomial infections.
Deeksha Pandey +2 more
openaire +3 more sources
TP53 PATHOGENIC VARIANTS RELATED TO CANCER [PDF]
Journal of Basic and Applied Genetics, 2019 TP53 or P53 is a tumor suppressor gene known as the “genome guardian”, responsible for inducing cell response to DNA damage, by stopping the cell cycle in case of mutation, activating DNA repair enzymes, initiating senescence and activation of apoptosis. Mutations in the gene sequence can cause non-synonymous mutations or errors in the reading frame by
Rosero, C.Y +3 more
openaire +4 more sources
Pathogenic Variants of the PHEX Gene
Endocrines, 2022 Twenty-five years ago, a pathogenic variant of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene was identified as the cause of X-linked hypophosphatemic rickets (XLH). Subsequently, the overproduction of fibroblast growth factor 23 (FGF23) due to PHEX defects has been found to be associated with XLH pathophysiology.
Yasuhisa Ohata, Yasuki Ishihara
openaire +2 more sources
Reply to: “Inappropriate interpretation of non‐pathogenic HTRA1 variant as pathogenic”
Annals of Clinical and Translational Neurology, 2023 Chen Zhang +8 more
doaj +3 more sources
BMC Medical Genomics, 2021 Background Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the APC gene. To date, multiple pathogenic variants in coding regions, splice sites, and deep intronic regions have been revealed.
Worrawit Wanitsuwan +3 more
doaj +1 more source
Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer
Current Issues in Molecular Biology, 2022 Colorectal cancer is a heterogeneous disease with multiple genomic changes that influence the clinical management of patients; thus, the search for new molecular targets remains necessary.
Beatriz Armida Flores-López +8 more
doaj +1 more source
AmazonForest: In-silico Meta-Prediction of Pathogenic Variants
Biology, 2020 ClinVar is a web platform that stores around 774k curated entries, which allows exploring genetic variants and their associations with complex phenotypes. A partial set of ClinVar’s genetic associations were reported with conflict of interpretation or uncertain clinical impact significance, which currently challenges clinicians and ...
Helber Gonzales Almeida Palheta +6 more
openaire +4 more sources
Orphanet Journal of Rare Diseases, 2019 Background Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century.
Maude Grelet +20 more
doaj +1 more source
BMC Medical Genetics, 2018 Background MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in early childhood. Recently, such
Mun Young Chang +8 more
doaj +1 more source