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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…
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Keywords:
human functional;
cdc;
guidelines mouse;
functional assays ... See more keywords
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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…
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Keywords:
cohesin;
functional assays;
human cohesin;
biochemical functional ... See more keywords
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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…
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Keywords:
interpretation;
functional assays;
genetics;
assays rescue ... See more keywords
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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.…
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Keywords:
functional assays;
balanced accuracy;
silico;
likelihood ... See more keywords
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Published in 2025 at "Biomaterials science"
DOI: 10.1039/d4bm01684j
Abstract: A detailed understanding of aging biology and the development of anti-aging therapeutic strategies remain imperative yet inherently challenging due to the protracted nature of aging. Cellular senescence arises naturally through replicative exhaustion and is accelerated…
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Keywords:
senescence;
biology;
functional assays;
senolytic functional ... See more keywords
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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…
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Keywords:
evaluation functional;
heparin induced;
induced thrombocytopenia;
functional assays ... See more keywords
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1
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…
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Keywords:
interpretation human;
interpretation;
functional assays;
scalable functional ... See more keywords
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Published in 2024 at "Journal of Translational Medicine"
DOI: 10.1186/s12967-024-06010-z
Abstract: Background The field of single cell technologies has rapidly advanced our comprehension of the human immune system, offering unprecedented insights into cellular heterogeneity and immune function. While cryopreserved peripheral blood mononuclear cell (PBMC) samples enable…
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Keywords:
whole blood;
single cell;
functional assays;
cell ... See more keywords
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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…
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Keywords:
functional assays;
vcep;
evidence;
curation expert ... See more keywords
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1
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…
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Keywords:
maturation;
kidney;
kidney organoids;
functional assays ... See more keywords
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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…
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Keywords:
assays evaluate;
antibody mediated;
functional assays;
pathogenesis ... See more keywords