دورية أكاديمية
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
| العنوان: | Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome |
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| المؤلفون: | TUDP Study Group, Broad Center for Mendelian Genomics |
| المساهمون: | Faculty of Medicine, Clinical Laboratory Services, Diagnostics and Blood Bank, Landspitali - The National University Hospital of Iceland |
| سنة النشر: | 2022 |
| المجموعة: | Opin vísindi (Iceland) |
| مصطلحات موضوعية: | Lífefna- og sameindalíffræði, brain malformation, epilepsy, F-box protein, FBXW7, gastrointestinal issues, global developmental delay, hypotonia, intellectual disability, macrocephaly, Neurodevelopment, Proteasome Endopeptidase Complex/metabolism, Humans, Germ Cells, Ubiquitination, Germ-Line Mutation, F-Box-WD Repeat-Containing Protein 7/chemistry, Ubiquitin-Protein Ligases/genetics, Neurodevelopmental Disorders/genetics, Genetics (clinical), Genetics |
| الوصف: | Funding Information: I.E.S. has served on scientific advisory boards for UCB, Eisai, GlaxoSmithKline, BioMarin, Nutricia, Rogcon, Chiesi, Encoded Therapeutics, Xenon Pharmaceuticals, and Knopp Biosciences; has received speaker honoraria from GlaxoSmithKline, UCB, BioMarin, Biocodex, and Eisai; has received funding for travel from UCB, Biocodex, GlaxoSmithKline, Biomarin and Eisai; has served as an investigator for Zogenix, Zynerba, Ultragenyx, GW Pharma, UCB, Eisai, Anavex Life Sciences, Ovid Therapeutics, Epygenyx, Encoded Therapeutics and Marinus; and has consulted for Zynerba Pharmaceuticals, Atheneum Partners, Ovid Therapeutics, Care Beyond Diagnosis, Epilepsy Consortium and UCB. She may accrue future revenue on pending patent WO2009/086591; her patent for SCN1A testing is held by Bionomics and is licensed to various diagnostic companies; and she has a patent for a molecular diagnostic/therapeutic target for benign familial infantile epilepsy (BFIE) (PRRT2), WO/2013/059884. She receives and/or has received research support from the National Health and Medical Research Council of Australia, Medical Research Future Fund, Health Research Council of New Zealand, CURE, Australian Epilepsy Research Fund, and the National Institute of Neurological Disorders and Stroke of the National Institutes of Health. J.P. is co-chief scientific officer for Global Gene Corp. All other authors declare no competing interests. Funding Information: The authors thank the affected individuals and all family members for participating in this research. Please see the supplemental information for a complete list of Acknowledgments and funding. I.E.S. has served on scientific advisory boards for UCB, Eisai, GlaxoSmithKline, BioMarin, Nutricia, Rogcon, Chiesi, Encoded Therapeutics, Xenon Pharmaceuticals, and Knopp Biosciences; has received speaker honoraria from GlaxoSmithKline, UCB, BioMarin, Biocodex, and Eisai; has received funding for travel from UCB, Biocodex, GlaxoSmithKline, Biomarin and Eisai; has served as an investigator for ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 601-617 |
| اللغة: | English |
| تدمد: | 0002-9297 |
| العلاقة: | American Journal of Human Genetics; 109(4); http://www.scopus.com/inward/record.url?scp=85127470624&partnerID=8YFLogxKTest; TUDP Study Group & Broad Center for Mendelian Genomics 2022 , ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ' , American Journal of Human Genetics , vol. 109 , no. 4 , pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002Test; de8a2159-1661-44de-bd54-a0566a5aaa4f; 85127470624; unpaywall: 10.1016/j.ajhg.2022.03.002; https://hdl.handle.net/20.500.11815/4105Test |
| DOI: | 10.1016/j.ajhg.2022.03.002 |
| الإتاحة: | https://doi.org/20.500.11815/4105Test https://doi.org/10.1016/j.ajhg.2022.03.002Test https://hdl.handle.net/20.500.11815/4105Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.2696F17 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 00029297 |
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| DOI: | 10.1016/j.ajhg.2022.03.002 |