المؤلفون: Zhu, Wan, Saw, Daniel, Weiss, Miriam, Sun, Zhengda, Wei, Meng, Shaligram, Sonali, Wang, Sen, Su, Hua

المصدر: Translational Stroke Research. 10(5)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Genetics, Neurosciences, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Neurological, Activin Receptors, Type II, Animals, CRISPR-Cas Systems, Disease Models, Animal, Endothelial Cells, Female, Gene Expression, Genetic Vectors, Intracranial Arteriovenous Malformations, Male, Mice, Inbred C57BL, Mutation, Alk1, CRISPR, Cas9, Brain arteriovenous malformation, Somatic gene mutation, CRISPR/Cas9, Clinical Sciences, Public Health and Health Services, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/80d6c6p5

المؤلفون: Honghui Zhu, Yi Ding, Hang Huang, Qi Lin, Wei Chen, Zhixian Yu

المصدر: Heliyon, Vol 9, Iss 3, Pp e13827- (2023)

مصطلحات موضوعية: Metastatic prostate cancer in china, Next generation sequencing, Somatic gene mutation, Prognosis, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844023010344; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/0b61122c5b794336b2294dc27a06341f

المؤلفون: Liqin Zhao, Ting Luo, Jinling Jiang, Junwei Wu, Xiaowei Zhang

المصدر: Frontiers in Molecular Biosciences, Vol 9 (2022)

مصطلحات موضوعية: immune checkpoint inhibitor, somatic gene mutation, polygenic hazard score, metastatic melanoma, tumor mutation burden, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2022.1001792/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/5c0ef0e4f0a44902995a47b44a924af0

المؤلفون: Deniss Sõritsa, Hindrek Teder, Retlav Roosipuu, Hannes Tamm, Triin Laisk-Podar, Pille Soplepmann, Alan Altraja, Andres Salumets, Maire Peters

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: Benign metastasizing leiomyoma, BMP8B, Endometriosis, GnRH agonists, Pulmonary lesion, Somatic gene mutation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0537-5; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/305561ef3ab447bd874ea40475771bee

المؤلفون: Soritsa, Deniss, Teder, Hindrek, Roosipuu, Retlav, Tamm, Hannes, Laisk-Podar, Triin, Soplepmann, Pille, Altraja, Alan, Salumets, Andres, Peters, Maire

المساهمون: Department of Obstetrics and Gynecology, Clinicum, University of Helsinki, HUS Gynecology and Obstetrics

مصطلحات موضوعية: Benign metastasizing leiomyoma, BMP8B, Endometriosis, GnRH agonists, Pulmonary lesion, Somatic gene mutation, OF-THE-LITERATURE, UTERINE LEIOMYOMA, GASTRIC-CANCER, UTERUS, OOPHORECTOMY, PROGRESSION, CLONALITY, Biomedicine

وصف الملف: application/pdf

Relation: The research was funded by grant IUT34-16 from the Estonian Ministry of Education and Research, by Enterprise Estonia, grant no EU48695, and by the European Commission Horizon 2020 research and innovation programme under grant agreements 692065 (project WIDENLIFE) and 691058 (MSCA-RISE-2015 project MOMENDO).; Soritsa , D , Teder , H , Roosipuu , R , Tamm , H , Laisk-Podar , T , Soplepmann , P , Altraja , A , Salumets , A & Peters , M 2018 , ' Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene ' , BMC Medical Genetics , vol. 19 , 20 . https://doi.org/10.1186/s12881-018-0537-5; http://hdl.handle.net/10138/233503; a5f7a225-09a0-455c-9b24-f2964b308e84; 85041482140; 000423749400001

الاتاحة: http://hdl.handle.net/10138/233503

المؤلفون: Zuli Li, Qian Zhou, Jin Wang, Li Tian, Lin-lan Song, Yong Liao, Di Mu

المصدر: Genes and Diseases, Vol 7, Iss 3, Pp 380-391 (2020)
Genes & Diseases

مصطلحات موضوعية: 0301 basic medicine, Hepatocellular carcinoma, Gene mutation, medicine.disease_cause, Biochemistry, Somatic evolution in cancer, 0302 clinical medicine, Gene ontology (GO), Exome, Genetics (clinical), Exome sequencing, Mutation, lcsh:R5-920, CDS, coding for amino acids in protein, Clonal evolution, Genome-wide association, Encyclopedia of genes and genomes (KEGG), NTR, N-terminal region, SNP, single nucleotide polymorphism, 030220 oncology & carcinogenesis, lcsh:Medicine (General), WES, whole exome sequencing, CTR, C-terminal region, lcsh:QH426-470, Somatic gene mutation, CUL3, Cullin3, IVR, intervening region, Single-nucleotide polymorphism, Biology, KEGG, Kyoto Encyclopedia of Genes and Genomes, Article, Frameshift mutation, BTB, Broad-complex, Tramtrack, and Bric-a-brac, OS, overall survival, 03 medical and health sciences, GO, Gene Ontology, medicine, DGR, DC domain harboring six Kelch-repeat domain, Molecular Biology, Gene, CNC, cap’n’collar, FA, fatty acid, Whole exome sequencing, Cell Biology, lcsh:Genetics, 030104 developmental biology, Metastatic potentiality, Cancer research, bZIP, basic-region leucine zipper, HCC, hepatocellular carcinoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d1da98987bcc208cd946687aca9e753
http://www.sciencedirect.com/science/article/pii/S2352304220300684

المؤلفون: Liqin Zhao, Ting Luo, Jinling Jiang, Junwei Wu, Xiaowei Zhang

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, immune checkpoint inhibitor, somatic gene mutation, polygenic hazard score, metastatic melanoma, tumor mutation burden

Relation: https://figshare.com/articles/dataset/Table1_Eight_gene_mutation-based_polygenic_hazard_score_as_a_potential_predictor_for_immune_checkpoint_inhibitor_therapy_outcome_in_metastatic_melanoma_PDF/20785054

الاتاحة: https://doi.org/10.3389/fmolb.2022.1001792.s001
https://figshare.com/articles/dataset/Table1_Eight_gene_mutation-based_polygenic_hazard_score_as_a_potential_predictor_for_immune_checkpoint_inhibitor_therapy_outcome_in_metastatic_melanoma_PDF/20785054

المؤلفون: Zhengda Sun, Sen Wang, Wan Zhu, Hua Su, Daniel Saw, Sonali Shaligram, Miriam Weiss, Meng Wei

المصدر: Translational stroke research, vol 10, iss 5
Transl Stroke Res

مصطلحات موضوعية: Male, 0301 basic medicine, Somatic cell, Activin Receptors, Type II, Activin Receptors, Gene Expression, Alk1, Gene mutation, Inbred C57BL, Pathogenesis, Mice, Exon, 0302 clinical medicine, 2.1 Biological and endogenous factors, CRISPR, Medicine, Aetiology, Cas9, General Neuroscience, Neurological, Public Health and Health Services, Female, Development of treatments and therapeutic interventions, Cardiology and Cardiovascular Medicine, Biotechnology, Intracranial Arteriovenous Malformations, Genetic Vectors, Clinical Sciences, Somatic gene mutation, Type II, Article, Viral vector, 03 medical and health sciences, Genetics, Animals, CRISPR/Cas9, Gene, 5.2 Cellular and gene therapies, Animal, business.industry, Brain arteriovenous malformation, Neurosciences, Endothelial Cells, Molecular biology, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Disease Models, Mutation, Neurology (clinical), CRISPR-Cas Systems, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2ef6cb566736442d8564b14aeaebd85
https://doi.org/10.1007/s12975-018-0676-1

المؤلفون: Hackman, Peter

المساهمون: Karolinska Institutet, Biosciences and Nutrition, Publisher, Karolinska Institutet, Biovetenskaper och näringslära, Publisher

مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Somatic gene mutation, mutational spectra, HPRT gene, lung cancer, smoking, hMLH1 gene, HNPCC, microsatellite instability, mismatch repair, T-cells

وصف الملف: electronic

URL الوصول: http://hdl.handle.net/10616/44440

المؤلفون: Guglielmelli P1, Biamonte F, Rotunno G, Artusi V, Artuso L, Bernardis I, Tenedini E, Pieri L, Paoli C, Mannarelli C, Fjerza R, Stalbovskaya V, Squires M, Manfredini R, Harrison C, Tagliafico E, Vannucchi AM, RUMI, ELISA, CAZZOLA, MARIO

المساهمون: Guglielmelli, P1, Biamonte, F, Rotunno, G, Artusi, V, Artuso, L, Bernardis, I, Tenedini, E, Pieri, L, Paoli, C, Mannarelli, C, Fjerza, R, Rumi, Elisa, Stalbovskaya, V, Squires, M, Cazzola, Mario, Manfredini, R, Harrison, C, Tagliafico, E, Vannucchi, Am

مصطلحات موضوعية: Primary myelofibrosi, ruxolitinib, somatic gene mutation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/24458439; info:eu-repo/semantics/altIdentifier/wos/000335889600011; volume:123; issue:14; firstpage:2157; lastpage:2160; numberofpages:4; journal:BLOOD; http://hdl.handle.net/11571/983274; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84899056972; http://www.bloodjournal.org/content/123/14/2157.long?sso-checked=true

الاتاحة: http://hdl.handle.net/11571/983274
https://doi.org/10.1182/blood-2013-11-536557
http://www.bloodjournal.org/content/123/14/2157.long?sso-checked=true

المؤلفون: Anthony W. Linnane, Ronald J. Maxwell, Alessandra Baumer, Chunfang Zhang, Phillip Nagley

المصدر: FEBS letters. 297(1-2)

مصطلحات موضوعية: Mitochondrial DNA, Base pair, Mitochondrial disease, Molecular Sequence Data, Somatic gene mutation, Biophysics, Biology, Biochemistry, DNA, Mitochondrial, Polymerase Chain Reaction, DNA sequencing, law.invention, Structural Biology, law, Genetics, medicine, Direct repeat, Humans, Molecular Biology, Polymerase chain reaction, Aged, DNA deletion, Base Sequence, Multiple mitochondrial DNA deletions, Muscles, Myocardium, Brain, Cell Biology, medicine.disease, Molecular biology, Ageing, Female, Primer (molecular biology), Chromosome Deletion, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4f5a71306cb90b822dd5a7e85d1ab7c
https://pubmed.ncbi.nlm.nih.gov/1551433