المؤلفون: Chauhan AS; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, U.K., Jhujh SS; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, U.K., Stewart GS; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, U.K.

المصدر: The Biochemical journal [Biochem J] 2024 Jul 17; Vol. 481 (14), pp. 923-944.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Print Cited Medium: Internet ISSN: 1470-8728 (Electronic) Linking ISSN: 02646021 NLM ISO Abbreviation: Biochem J Subsets: MEDLINE

مواضيع طبية MeSH: Ubiquitin-Protein Ligases*/metabolism , Ubiquitin-Protein Ligases*/genetics , DNA Repair* , DNA Replication* , DNA Damage*, Humans ; Ubiquitination ; Neoplasms/genetics ; Neoplasms/metabolism ; Genomic Instability ; Protein Processing, Post-Translational ; Animals ; Tumor Suppressor Proteins/genetics ; Tumor Suppressor Proteins/metabolism

المؤلفون: Cvetkovic MA; Macromolecular Machines Laboratory, The Francis Crick Institute, London NW1 1AT, UK., Passaretti P; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK., Butryn A; Macromolecular Machines Laboratory, The Francis Crick Institute, London NW1 1AT, UK., Reynolds-Winczura A; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK., Kingsley G; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK., Skagia A; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK., Fernandez-Cuesta C; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK., Poovathumkadavil D; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK., George R; Structural Biology Science Technology Platform, The Francis Crick Institute, London NW1 1AT, UK., Chauhan AS; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK., Jhujh SS; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK., Stewart GS; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK., Gambus A; Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, Birmingham B15 2TT, UK. Electronic address: a.gambus@bham.ac.uk., Costa A; Macromolecular Machines Laboratory, The Francis Crick Institute, London NW1 1AT, UK. Electronic address: alessandro.costa@crick.ac.uk.

المصدر: Molecular cell [Mol Cell] 2023 Nov 16; Vol. 83 (22), pp. 4017-4031.e9. Date of Electronic Publication: 2023 Oct 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 9802571 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4164 (Electronic) Linking ISSN: 10972765 NLM ISO Abbreviation: Mol Cell Subsets: MEDLINE

مواضيع طبية MeSH: Cell Cycle Proteins*/chemistry , Cell Cycle Proteins*/metabolism , DNA Helicases*/metabolism , Nuclear Proteins*/chemistry , Nuclear Proteins*/metabolism, Animals ; Humans ; Cryoelectron Microscopy ; DNA/genetics ; DNA/metabolism ; DNA Replication ; Minichromosome Maintenance Proteins/genetics ; Minichromosome Maintenance Proteins/metabolism ; Saccharomyces cerevisiae/genetics ; Enzyme Activation

المؤلفون: Datta A; Helicases and Genomic Integrity Section, Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA., Sommers JA; Helicases and Genomic Integrity Section, Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA., Jhujh SS; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Harel T; Department of Genetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Stewart GS; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Brosh RM Jr; Helicases and Genomic Integrity Section, Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA. Electronic address: broshr@mail.nih.gov.

المصدر: Ageing research reviews [Ageing Res Rev] 2023 Apr; Vol. 86, pp. 101887. Date of Electronic Publication: 2023 Feb 19.

نوع المنشور: Journal Article; Review; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Elsevier Science Country of Publication: England NLM ID: 101128963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-9649 (Electronic) Linking ISSN: 15681637 NLM ISO Abbreviation: Ageing Res Rev Subsets: MEDLINE

مواضيع طبية MeSH: RecQ Helicases*/genetics , RecQ Helicases*/metabolism , Aging*/genetics, Humans ; Syndrome ; Mutation ; Homeostasis/genetics

المؤلفون: Grange LJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Reynolds JJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Ullah F; Advanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.; National Institute for Biotechnology and Genetic Engineering (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France., Shearer RF; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Latypova X; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France., Baxley RM; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN, USA., Oliver AW; Genome Damage and Stability Centre, Science Park Road, University of Sussex, Falmer, Brighton, UK., Ganesh A; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Cooke SL; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Jhujh SS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., McNee GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Hollingworth R; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Higgs MR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Natsume T; Department of Chromosome Science, National Institute of Genetics, Research Organization of Information and Systems (ROIS), Mishima, Shizuoka, Japan., Khan T; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA., Martos-Moreno GÁ; Hospital Infantil Universitario Niño Jesús, CIBER de fisiopatología de la obesidad y nutrición (CIBEROBN), Instituto de Salud Carlos III, Universidad Autónoma de Madrid, Madrid, Spain., Chupp S; The Community Health Clinic, Topeka, IN, USA., Mathew CG; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Parry D; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh, Scotland., Simpson MA; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, Guy's Hospital, King's College London, London, UK., Nahavandi N; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany., Yüksel Z; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany., Drasdo M; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany., Kron A; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany., Vogt P; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany., Jonasson A; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany., Seth SA; King Fahad Military Medical Complex, Dhahran, Saudi Arabia., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA.; International Laboratory for Human Genome Research, Universidad Nacional Autónoma de México, Querétaro, México., Brigatti KW; Clinic for Special Children, Strasburg, PA, USA., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Kanemaki M; Department of Genetics, The Graduate University for Advanced Studies (SOKENDAI), Mishima, Shizuoka, Japan., Josifova D; Clinical Genetics Department, Guy's Hospital, London, UK., Uchiyama Y; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Oh Y; Department of Paediatrics, Jichi Medical University School of Medicine, Tochigi, Japan., Morimoto A; Department of Paediatrics, Jichi Medical University School of Medicine, Tochigi, Japan., Osaka H; Department of Paediatrics, Jichi Medical University School of Medicine, Tochigi, Japan., Ammous Z; The Community Health Clinic, Topeka, IN, USA., Argente J; Hospital Infantil Universitario Niño Jesús, CIBER de fisiopatología de la obesidad y nutrición (CIBEROBN), Instituto de Salud Carlos III, Universidad Autónoma de Madrid, Madrid, Spain.; IMDEA Alimentación/IMDEA Food, Madrid, Spain., Matsumoto N; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Taylor AMR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Jackson AP; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh, Scotland., Bielinsky AK; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN, USA., Mailand N; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Le Caignec C; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale and ToNIC, Toulouse NeuroImaging Center, Inserm, UPS, Université de Toulouse, Toulouse, France. lecaignec.c@chu-toulouse.fr., Davis EE; Advanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA. eridavis@luriechildrens.org.; Department of Pediatrics; Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. eridavis@luriechildrens.org., Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK. g.s.stewart@bham.ac.uk.

المصدر: Nature communications [Nat Commun] 2022 Nov 04; Vol. 13 (1), pp. 6664. Date of Electronic Publication: 2022 Nov 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Cell Cycle Proteins*/genetics , Cell Cycle Proteins*/metabolism , Microcephaly*/genetics, Humans ; DNA Repair/genetics ; Chromosomes/metabolism ; Genomic Instability ; DNA-Binding Proteins/metabolism ; Ubiquitin-Protein Ligases/metabolism ; Chromosomal Proteins, Non-Histone/metabolism

المؤلفون: Abu-Libdeh B; Department of Pediatrics and Genetics, Makassed Hospital and Al-Quds Medical School, East Jerusalem, Palestine., Jhujh SS; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Dhar S; Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA., Sommers JA; Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA., Datta A; Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA., Longo GM; Institute of Molecular Biology (IMB), Mainz, Germany., Grange LJ; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Reynolds JJ; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Cooke SL; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., McNee GS; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Hollingworth R; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Woodward BL; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Ganesh AN; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Smerdon SJ; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Nicolae CM; Department of Biochemistry and Molecular Biology, The Pennsylvania State University College of Medicine, Hershey, Pennsylvania, USA., Durlacher-Betzer K; Department of Genetics and., Molho-Pessach V; Paediatric Dermatology Service, Department of Dermatology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Abu-Libdeh A; Department of Pediatrics and Genetics, Makassed Hospital and Al-Quds Medical School, East Jerusalem, Palestine., Meiner V; Department of Genetics and., Moldovan GL; Department of Biochemistry and Molecular Biology, The Pennsylvania State University College of Medicine, Hershey, Pennsylvania, USA., Roukos V; Institute of Molecular Biology (IMB), Mainz, Germany., Harel T; Department of Genetics and., Brosh RM Jr; Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA., Stewart GS; Institute for Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.

المصدر: The Journal of clinical investigation [J Clin Invest] 2022 Mar 01; Vol. 132 (5).

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Breast Neoplasms*, DNA Replication ; Female ; Genetic Predisposition to Disease ; Genomic Instability ; Humans ; Mutation ; RecQ Helicases/genetics ; RecQ Helicases/metabolism

المؤلفون: Lappin KM; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., Barros EM; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., Jhujh SS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Irwin GW; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., McMillan H; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., Liberante FG; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom.; Wellcome Sanger Institute, Cambridge, United Kingdom., Latimer C; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., La Bonte MJ; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., Mills KI; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., Harkin DP; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Savage KI; Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom.

المصدر: Cancer research [Cancer Res] 2022 Mar 01; Vol. 82 (5), pp. 819-830.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: Neoplasms*/drug therapy , Neoplasms*/genetics , Phosphoproteins*/genetics , Poly(ADP-ribose) Polymerase Inhibitors*/pharmacology , Poly(ADP-ribose) Polymerase Inhibitors*/therapeutic use , RNA Splicing Factors*/genetics, DNA Replication ; Humans ; Mutation ; Phenotype ; Synthetic Lethal Mutations