Guidelines for mouse and human DC functional assays.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of immunology"
DOI: 10.1002/eji.202249925
Abstract: This article is part of the Dendritic Cell Guidelines article series, which provides a collection of state-of-the-art protocols for the preparation, phenotype analysis by flow cytometry, generation, fluorescence microscopy, and functional characterization of mouse and… read more here.
Keywords: human functional; cdc; guidelines mouse; functional assays ... See more keywords
Biochemical and Functional Assays of Human Cohesin-Releasing Factor Wapl.
Sign Up to like & getrecommendations! Published in 2017 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-6545-8_3
Abstract: During the cell cycle, duplicated sister chromatids become physically connected during S phase through a process called sister-chromatid cohesion. Cohesion is terminated during the metaphase-to-anaphase transition to trigger sister-chromatid segregation. The establishment and dissolution of… read more here.
Keywords: cohesin; functional assays; human cohesin; biochemical functional ... See more keywords
Variant Interpretation: Functional Assays to the Rescue.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.07.014
Abstract: Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy… read more here.
Keywords: interpretation; functional assays; genetics; assays rescue ... See more keywords
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes
Sign Up to like & getrecommendations! Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-021-01265-z
Abstract: Purpose Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or benignity, equivalent to a likelihood ratio of ~2.… read more here.
Keywords: functional assays; balanced accuracy; silico; likelihood ... See more keywords
Evaluation of functional assays for the diagnosis of heparin induced thrombocytopenia using 5B9, a monoclonal IgG that mimics human antibodies
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.14749
Abstract: Serotonin release assay (SRA) is considered as the “gold standard” for detecting pathogenic heparin‐induced thrombocytopenia (HIT) antibodies. However, this method is time consuming, expensive, and uses radioelements. Heparin‐induced multiple electrode aggregometry (HIMEA), light transmission aggregometry… read more here.
Keywords: evaluation functional; heparin induced; induced thrombocytopenia; functional assays ... See more keywords
Scalable Functional Assays for the Interpretation of Human Genetic Variation.
Sign Up to like & getrecommendations! Published in 2022 at "Annual review of genetics"
DOI: 10.1146/annurev-genet-072920-032107
Abstract: Scalable sequence-function studies have enabled the systematic study and cataloging of hundreds of thousands of coding and noncoding genetic variants in the human genome. This has improved clinical variant interpretation and provided insights into the… read more here.
Keywords: interpretation human; interpretation; functional assays; scalable functional ... See more keywords
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
Sign Up to like & getrecommendations! Published in 2019 at "Genome Medicine"
DOI: 10.1186/s13073-019-0683-1
Abstract: BackgroundThe 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in variant… read more here.
Keywords: functional assays; vcep; evidence; curation expert ... See more keywords
Live functional assays reveal longitudinal maturation of transepithelial transport in kidney organoids
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.978888
Abstract: Kidney organoids derived from hPSCs have opened new opportunities to develop kidney models for preclinical studies and immunocompatible kidney tissues for regeneration. Organoids resemble native nephrons that consist of filtration units and tubules, yet little… read more here.
Keywords: maturation; kidney; kidney organoids; functional assays ... See more keywords
Functional assays to evaluate antibody-mediated responses against Shigella: a review
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Cellular and Infection Microbiology"
DOI: 10.3389/fcimb.2023.1171213
Abstract: Shigella is a major global pathogen and the etiological agent of shigellosis, a diarrheal disease that primarily affects low- and middle-income countries. Shigellosis is characterized by a complex, multistep pathogenesis during which bacteria use multiple… read more here.
Keywords: assays evaluate; antibody mediated; functional assays; pathogenesis ... See more keywords
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22168627
Abstract: Lynch syndrome (LS) is one of the most common hereditary cancer predisposition syndromes worldwide. Individuals with LS have a high risk of developing colorectal or endometrial cancer, as well as several other cancers. LS is… read more here.
Keywords: msh6; msh6 variants; functional assays; variants uncertain ... See more keywords