BookR: School of Health Core Facilities Booking
PubMed Publications| Keyword search (4,163 papers available) |  |
"Screening" Keyword-tagged Publications:
| Title | Authors | PubMed ID | |
|---|---|---|---|
| 1 | PARPAL: PARalog Protein Redistribution using Abundance and Localization in Yeast Database | Greco BM; Zapata G; Dandage R; Papkov M; Pereira V; Lefebvre F; Bourque G; Parts L; Kuzmin E; | 40580499 BIOLOGY |
| 2 | Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance | Muffels IJJ; Waterham HR; D' Alessandro G; Zagnoli-Vieira G; Sacher M; Lefeber DJ; Van der Vinne C; Roifman CM; Gassen KLI; Rehmann H; Van Haaften-Visser DY; Nieuwenhuis ESS; Jackson SP; Fuchs SA; Wijk F; van Hasselt P; | 39920830 BIOLOGY |
| 3 | Automated abdominal aortic calcification and major adverse cardiovascular events in people undergoing osteoporosis screening: the Manitoba Bone Mineral Density Registry | Smith C; Sim M; Ilyas Z; Gilani SZ; Suter D; Reid S; Monchka BA; Jozani MJ; Figtree G; Schousboe JT; Lewis JR; Leslie WD; | 39749990 ENCS |
| 4 | Validation and Reliability of the Dyslexia Adult Checklist in Screening for Dyslexia | Stark Z; Elalouf K; Soldano V; Franzen L; Johnson AP; | 39660384 PSYCHOLOGY |
| 5 | Exploring the Qualitative Experiences of Administering and Participating in Remote Research via Telephone Using the Montreal Cognitive Assessment-Blind: Cross-Sectional Study of Older Adults | Dumassais S; Grewal KS; Aubin G; O' Connell M; Phillips NA; Wittich W; | 39546346 PSYCHOLOGY |
| 6 | Are MEDLINE searches sufficient for systematic reviews and meta-analyses of the diagnostic accuracy of depression screening tools? A review of meta-analyses | Rice DB; Kloda LA; Levis B; Qi B; Kingsland E; Thombs BD; | 27411746 LIBRARY |
| 7 | Reporting quality in abstracts of meta-analyses of depression screening tool accuracy: a review of systematic reviews and meta-analyses | Rice DB; Kloda LA; Shrier I; Thombs BD; | 27864250 LIBRARY |
| 8 | Depression Screening and Health Outcomes in Children and Adolescents: A Systematic Review | Roseman M; Saadat N; Riehm KE; Kloda LA; Boruff J; Ickowicz A; Baltzer F; Katz LY; Patten SB; Rousseau C; Thombs BD; | 28851234 LIBRARY |
| 9 | Simultaneous automated ascertainment of prevalent vertebral fracture and abdominal aortic calcification in clinical practice: role in fracture risk assessment | Schousboe JT; Lewis JR; Monchka BA; Reid SB; Davidson MJ; Kimelman D; Jozani MJ; Smith C; Sim M; Gilani SZ; Suter D; Leslie WD; | 38699950 ENCS |
| 10 | Screening for parent and child ADHD in urban pediatric primary care: pilot implementation and stakeholder perspectives | Lui JHL; Danko CM; Triece T; Bennett IM; Marschall D; Lorenzo NE; Stein MA; Chronis-Tuscano A; | 37442955 PSYCHOLOGY |
| 11 | A "biphasic glycosyltransferase high-throughput screen" identifies novel anthraquinone glycosides in the diversification of phenolic natural products | Mohideen FI; Kwan DH; | 36682498 CHEMBIOCHEM |
| 12 | Microfluidics for long-term single-cell time-lapse microscopy: Advances and applications | Allard P; Papazotos F; Potvin-Trottier L; | 36312536 BIOLOGY |
| 13 | Transparency and completeness of reporting of depression screening tool accuracy studies: A meta-research review of adherence to the Standards for Reporting of Diagnostic Accuracy Studies statement | Nassar EL; Levis B; Neyer MA; Rice DB; Booij L; Benedetti A; Thombs BD; | 36047034 PSYCHOLOGY |
| 14 | Perfluoroalkyl and polyfluoroalkyl substances (PFASs) in groundwater: current understandings and challenges to overcome | Zhao Z; Li J; Zhang X; Wang L; Wang J; Lin T; | 35593984 CHEMBIOCHEM |
| 15 | Sample size and precision of estimates in studies of depression screening tool accuracy: A meta-research review of studies published in 2018-2021 | Nassar EL; Levis B; Neyer MA; Rice DB; Booij L; Benedetti A; Thombs BD; | 35362161 PSYCHOLOGY |
| 16 | Inclusion of currently diagnosed or treated individuals in studies of depression screening tool accuracy: a meta-research review of studies published in 2018-2021 | Nassar EL; Levis B; Rice DB; Booij L; Benedetti A; Thombs BD; | 35334411 PSYCHOLOGY |
| 17 | Osseointegration Pharmacology: A Systematic Mapping Using Artificial Intelligence | Mahri M; Shen N; Berrizbeitia F; Rodan R; Daer A; Faigan M; Taqi D; Wu KY; Ahmadi M; Ducret M; Emami E; Tamimi F; | 33181361 CONCORDIA |
| 18 | Equivalency of the diagnostic accuracy of the PHQ-8 and PHQ-9: a systematic review and individual participant data meta-analysis | Wu Y; Levis B; Riehm KE; Saadat N; Levis AW; Azar M; Rice DB; Boruff J; Cuijpers P; Gilbody S; Ioannidis JPA; Kloda LA; McMillan D; Patten SB; Shrier I; Ziegelstein RC; Akena DH; Arroll B; Ayalon L; Baradaran HR; Baron M; Bombardier CH; Butterworth P; Carter G; Chagas MH; Chan JCN; Cholera R; Conwell Y; de Man-van Ginkel JM; Fann JR; Fischer FH; Fung D; Gelaye B; Goodyear-Smith F; Greeno CG; Hall BJ; Harrison PA; Härter M; Hegerl U; Hides L; Hobfoll SE; Hudson M; Hyphantis T; Inagaki M; Jetté N; Khamseh ME; Kiely KM; Kwan Y; Lamers F; Liu SI; Lotrakul M; Loureiro SR; Löwe B; McGuire A; Mohd-Sidik S; Munhoz TN; Muramatsu K; Osório FL; Patel V; Pence BW; Persoons P; Picardi A; Reuter K; Rooney AG; Santos IS; Shaaban J; Sidebottom A; Simning A; Stafford L; Sung S; Tan PLL; Turner A; van Weert HC; White J; Whooley MA; Winkley K; Yamada M; Benedetti A; Thombs BD; | 31298180 LIBRARY |
| 19 | Virtual screening, docking, and dynamics of potential new inhibitors of dihydrofolate reductase from Yersinia pestis. | Bastos Lda C, de Souza FR, Guimarães AP, Sirouspour M, Cuya Guizado TR, Forgione P, Ramalho TC, França TC | 26494420 CHEMISTRY |
| 20 | Diagnostic accuracy of the Depression subscale of the Hospital Anxiety and Depression Scale (HADS-D) for detecting major depression: protocol for a systematic review and individual patient data meta-analyses. | Thombs BD, Benedetti A, Kloda LA, Levis B, Azar M, Riehm KE, Saadat N, Cuijpers P, Gilbody S, Ioannidis JP, McMillan D, Patten SB, Shrier I, Steele RJ, Ziegelstein RC, Loiselle CG, Henry M, Ismail Z, Mitchell N, Tonelli M | 27075844 LIBRARY |
| 21 | Evolutionary Adaptation to Generate Mutants. | de Vries RP, Lubbers R, Patyshakuliyeva A, Wiebenga A, Benoit-Gelber I | 29876815 BIOLOGY |
| Title: | Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance | ||||
| Authors: | Muffels IJJ, Waterham HR, D', Alessandro G, Zagnoli-Vieira G, Sacher M, Lefeber DJ, Van der Vinne C, Roifman CM, Gassen KLI, Rehmann H, Van Haaften-Visser DY, Nieuwenhuis ESS, Jackson SP, Fuchs SA, Wijk F, van Hasselt P | ||||
| Link: | https://pubmed.ncbi.nlm.nih.gov/39920830/ | ||||
| DOI: | 10.1186/s13073-025-01433-9 | ||||
| Publication: | Genome medicine | ||||
| Keywords: | DNA damage repair defect; Functional genomics; Genetic diseases; High-throughput screening; Imaging flow cytometry; Metabolic disorders; Precision genomic diagnostics; Variant of uncertain significance; | ||||
| PMID: | 39920830 | Category: | Date Added: | 2025-02-08 | |
| Dept Affiliation: |
BIOLOGY
1 Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands. i.j.j.muffels-2@umcutrecht.nl. 2 United For Metabolic Diseases (UMD), Amsterdam, the Netherlands. 3 Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC - AMC, Amsterdam, the Netherlands. 4 Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK. 5 The Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, UK. 6 Department of Biology, Concordia University, Montreal, QC, Canada. 7 Department of Anatomy and Cell Biology, McGill University, Montreal, QC, Canada. 8 Translational Metabolic Laboratory, Department of Neurology, Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. 9 Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands. 10 The Hospital for Sick Children and Research Institute, The University of Toronto, Toronto, Canada. 11 Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. 12 Department of Energy and Biotechnology, Flensburg University of Applied Sciences, Flensburg, Germany. 13 Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands. 14 Center for Rare Diseases, Erasmus University Medical Center, Rotterdam, the Netherlands. 15 Center for Translational Immunology (CTI), University Medical Center Utrecht (UMC), Utrecht University (UU), Utrecht, The Netherlands. 16 Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands. p.vanhasselt@umcutrecht.nl. |
||||
Description: |
Background: Deciphering variants of uncertain significance (VUS) represents a major diagnostic challenge, partially due to the lack of easy-to-use and versatile cellular readouts that aid the interpretation of pathogenicity and pathophysiology. To address this challenge, we propose a high-throughput screening of cellular functionality through an imaging flow cytometry (IFC)-based platform. Methods: Six assays to evaluate autophagic-, lysosomal-, Golgi- health, mitochondrial function, ER stress, and NF-?ß activity were developed in fibroblasts. Assay sensitivity was verified with compounds (N = 5) and positive control patients (N = 6). Eight healthy controls and 20 individuals with VUS were screened. Results: All molecular compounds and positive controls showed significant changes on their cognate assays, confirming assay sensitivity. Simultaneous screening of positive control patients on all six assays revealed distinct phenotypic profiles. In addition, individuals with VUS(es) in well-known disease genes showed distinct - but similar-phenotypic profiles compared to patients with pathogenic variants in the same gene.. For all individuals with VUSes in Genes of Uncertain Significance (GUS), we found one or more of six assays were significantly altered. Broadening the screening to an untargeted approach led to the identification of two clusters that allowed for the recognition of altered cell cycle dynamics and DNA damage repair defects. Experimental follow-up of the 'DNA damage repair defect cluster' led to the discovery of highly specific defects in top2cc release from double-strand DNA breaks in one of these individuals, harboring a VUS in the RAD54L2 gene. Conclusions: Our high-throughput IFC-based platform simplifies the process of identifying VUS pathogenicity through six assays and allows for the recognition of useful pathophysiological markers that structure follow-up experiments, thereby representing a novel valuable tool for precise functional diagnostics in genomics. |
