المؤلفون: Julian Blagg, Dirk Wienke, Olajumoke O. Popoola, Konstantinos Mitsopoulos, Aurélie Mallinger, Paul A. Clarke, Kai Schiemann, Maria J. Ortiz-Ruiz, Suzanne A. Eccles, Paul Workman, Robert TePoele

المصدر: Molecular Cancer Therapeutics. 17:A187-A187

مصطلحات موضوعية: MAPK/ERK pathway, Gene isoform, Cancer Research, Reporter gene, biology, Kinase, Chemistry, Cell biology, Oncology, biology.protein, Cyclin-dependent kinase 8, STAT1, Transcription factor, Gene knockout

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::86528ea4f90ee7c6b767d4326c234d04
https://doi.org/10.1158/1535-7163.targ-17-a187

المؤلفون: Will Court, Paul Workman, Suzanne A. Eccles, Kai Schiemann, Alexis De Haven Brandon, Maria J. Ortiz Ruiz, Olajumoke O. Popoola, Aurélie Mallinger, Sharon Gowan, Gary Box, Dirk Wienke, Paul A. Clarke, Robert TePoele, Cristina Esdar, Melanie Valenti, Julian Blagg

المصدر: Cancer Research. 76:4355-4355

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Cas9, Kinase, Biology, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Oncology, In vivo, RNA interference, 030220 oncology & carcinogenesis, CRISPR, Cyclin-dependent kinase 8, Gene knockout, Ex vivo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fb3e2ad84da1c1173aeec6c3e2d6c1e5
https://doi.org/10.1158/1538-7445.am2016-4355

المؤلفون: S M Hobbs, Julian Blagg, Will Court, Aurélie Mallinger, Olajumoke O. Popoola, Dirk Wienke, Christina Esdar, Kai Schiemann, Paul A. Clarke, Rahul S. Samant, Paul Workman, Sue Eccles, Maria-Jesus Ortiz-Ruiz, Mark Stubbs, Rosemary Burke, Robert TePoele

المصدر: Cancer Research. 76:3869-3869

مصطلحات موضوعية: Genetics, Cancer Research, Pregnane X receptor, Oncology, Cell culture, Kinase, Wnt signaling pathway, Cyclin-dependent kinase 8, Phosphorylation, Signal transduction, Biology, Transcription factor, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::90af652c2c380e8401260272d6d280e9
https://doi.org/10.1158/1538-7445.am2016-3869

المؤلفون: Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Hervieu A; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK., Kaserer T; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK., Swagemakers SMA; Department of Pathology and Department of Bioinformatics, Erasmus University Medical Center, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands., Goos JAC; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands., Popoola O; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK., Ortiz-Ruiz MJ; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK., Barbaro-Dieber T; Genetics Division, Cook Children's Medical Center, Fort Worth, TX 76102, USA., Bownass L; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, Bristol BS2 8EG, UK., Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3508 AB Utrecht, the Netherlands., Brimble E; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton, Southampton SO16 5YA, UK., Grebe TA; Department of Child Health, University of Arizona College of Medicine, Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Harder AVE; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3508 AB Utrecht, the Netherlands., Lees MM; North Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3EH, UK., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Newbury-Ecob RA; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, Bristol BS2 8EG, UK., Ong KR; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK., Osio D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK., Reynoso Santos FJ; Genetics Division, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA; Charles E. Schmidt College of Medicine, Florida Atlantic University, Hollywood, FL 33021, USA., Ruzhnikov MRZ; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA., Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3508 AB Utrecht, the Netherlands., van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands., van der Spek PJ; Department of Pathology and Department of Bioinformatics, Erasmus University Medical Center, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands., Blagg J; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands., Clarke PA; Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK. Electronic address: paul.clarke@icr.ac.uk., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK. Electronic address: andrew.wilkie@imm.ox.ac.uk.

مؤلفون مشاركون: Deciphering Developmental Disorders Study; Deciphering Developmental Disorders Study, Wellcome Sanger Institute, Cambridge CB10 1SA, UK.

المصدر: American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 709-720. Date of Electronic Publication: 2019 Mar 21.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Cyclin-Dependent Kinase 8/*genetics , Developmental Disabilities/*genetics , Mediator Complex/*genetics, Brain/abnormalities ; Child ; Child, Preschool ; Cyclin C/genetics ; Cyclin-Dependent Kinases/genetics ; Exome ; Female ; Heart Defects, Congenital/genetics ; Heterozygote ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Mutation ; Phenotype ; Phosphorylation ; Syndrome