Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Sign Up to like & getrecommendations! Published in 2019 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2019.3914
Abstract: Importance Next-generation sequencing can detect variants of uncertain significance (VUSs), for some of which gene therapy would not be advantageous. Therefore, the pathogenicity of compound heterozygous or homozygous variants should be confirmed before bilateral vitrectomy… read more here.
Keywords: vitro mutagenesis; gene therapy; rpe65; pathogenicity ... See more keywords
Sequence Variation of Candida albicans Sap2 Enhances Fungal Pathogenicity via Complement Evasion and Macrophage M2-Like Phenotype Induction.
Sign Up to like & getrecommendations! Published in 2023 at "Advanced science"
DOI: 10.1002/advs.202206713
Abstract: Candida albicans (C. albicans) is an opportunistic pathogen increasingly causing candidiasis worldwide. This study aims to investigate the pattern of systemic immune responses triggered by C. albicans with disease associated variation of Sap2, identifying the… read more here.
Keywords: evasion; variation; pathogenicity; sequence variation ... See more keywords
Concern regarding classification of germline TP53 variants as likely pathogenic
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23750
Abstract: To the Editor, We read with some concern the recent article in Human Mutation on the frequency of potentially actionable germline variants in the TP53 gene (de Andrade et al., 2019). A prevalence estimate, including… read more here.
Keywords: classification; likely pathogenic; frequency; pathogenicity ... See more keywords
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23818
Abstract: The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically… read more here.
Keywords: classification; analysis; likelihood; pathogenicity ... See more keywords
Predicting pathogenicity of missense variants with weakly supervised regression
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23826
Abstract: Quickly growing genetic variation data of unknown clinical significance demand computational methods that can reliably predict clinical phenotypes and deeply unravel molecular mechanisms. On the platform enabled by the Critical Assessment of Genome Interpretation (CAGI),… read more here.
Keywords: supervised regression; regression; weakly supervised; pathogenicity ... See more keywords
Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24037
Abstract: Whole mitochondrial DNA (mtDNA) sequencing is now systematically used in clinical laboratories to screen patients with a phenotype suggestive of mitochondrial disease. Next Generation Sequencing (NGS) has significantly increased the number of identified pathogenic mtDNA… read more here.
Keywords: fiber studies; mitochondrial dna; single fiber; pathogenicity ... See more keywords
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24238
Abstract: Rare variants of the olfactomedin domain of myocilin are considered causative for inherited, early‐onset open‐angle glaucoma, with a misfolding toxic gain‐of‐function pathogenic mechanism detailed by 20 years of laboratory research. Myocilin variants are documented in… read more here.
Keywords: myocilin; genetics; glaucoma; pathogenicity ... See more keywords
Identification of variants in the mitochondrial lysine‐tRNA (MT‐TK) gene in myoclonic epilepsy—pathogenicity evaluation and structural characterization by in silico approach
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Cellular Biochemistry"
DOI: 10.1002/jcb.26857
Abstract: Variations in mitochondrial genes have an established link with myoclonic epilepsy. In the present study we evaluated the nucleotide sequence of MT‐TK gene of 52 individuals from 12 unrelated families and reported three variations in… read more here.
Keywords: silico; myoclonic epilepsy; pathogenicity; trna ... See more keywords
Omicron (BA.1) and sub‐variants (BA.1.1, BA.2, and BA.3) of SARS‐CoV‐2 spike infectivity and pathogenicity: A comparative sequence and structural‐based computational assessment
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Virology"
DOI: 10.1002/jmv.27927
Abstract: The Omicron variant of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has now spread throughout the world. We used computational tools to assess the spike infectivity, transmission, and pathogenicity of Omicron (BA.1) and sub-variants… read more here.
Keywords: sars cov; sub variants; pathogenicity; omicron sub ... See more keywords
AcuC, a histone deacetylase, contributes to the pathogenicity of Aeromonas hydrophila
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DOI: 10.1002/mbo3.468
Abstract: The interactions of pathogens and phagocytes are complex. Our study demonstrated that Aeromonas hydrophila B11 can survive in the macrophagocytes of Tilapia mossambica. To explore the regulatory processes of A. hydrophila survival in the macrophagocytes,… read more here.
Keywords: hydrophila b11; histone deacetylase; pathogenicity; aeromonas hydrophila ... See more keywords
The Role of Hsp70s in the Development and Pathogenicity of Plasmodium falciparum.
Sign Up to like & getrecommendations! Published in 2021 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-030-78397-6_3
Abstract: The main agent of human malaria, the protozoa, Plasmodium falciparum is known to infect liver cells, subsequently invading the host erythrocyte, leading to the manifestation of clinical outcomes of the disease. As part of its… read more here.
Keywords: plasmodium falciparum; role hsp70s; pathogenicity; role ... See more keywords