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المؤلفون: Ji-Yeon Shin, Howard J. Worman
المصدر: Annu Rev Pathol
مصطلحات موضوعية: Somatic cell, Molecular pathology, Laminopathies, Biology, Lamin Type A, Article, Pathology and Forensic Medicine, Cell biology, Mutation, Gene expression, Humans, Nuclear lamina, Signal transduction, Nuclear pore, Gene, Lamin, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c6b3a676cbcdad5e4a7a168453c8b95Test
https://doi.org/10.1146/annurev-pathol-042220-034240Test -
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المؤلفون: Bauer, Michael, Nascakova, Zuzana, Mihai, Anca-Irina, Cheng, Phil F, Levesque, Mitchell P, Lampart, Simon, Hurwitz, Robert, Pfannkuch, Lennart, Dobrovolna, Jana, Jacobs, Melanie, Bartfeld, Sina, Dohlman, Anders, Shen, Xiling, Gall, Alevtina A, Salama, Nina R, Töpfer, Antonia, Weber, Achim, Meyer, Thomas F, Janscak, Pavel, Müller, Anne
المساهمون: University of Zurich, Janscak, Pavel, Müller, Anne
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communicationsمصطلحات موضوعية: DNA Replication, Lipopolysaccharides, Science, 610 Medicine & health, 1600 General Chemistry, Microbiology, Article, Helicobacter Infections, Bacterial Proteins, 1300 General Biochemistry, Genetics and Molecular Biology, Stomach Neoplasms, 10049 Institute of Pathology and Molecular Pathology, Cell Line, Tumor, Humans, lcsh:Science, Adaptor Proteins, Signal Transducing, Cancer, Helicobacter pylori, Molecular medicine, 10061 Institute of Molecular Cancer Research, NF-kappa B, Gastroenterology, Glycosyltransferases, DNA, 3100 General Physics and Astronomy, Computational biology and bioinformatics, Host-Pathogen Interactions, Mutation, 570 Life sciences, biology, lcsh:Q, Floxuridine, Reactive Oxygen Species, Protein Kinases, DNA Damage
وصف الملف: application/pdf; The_ALPK1_TIFA_NF-kB_axis_links_a_bacterial_carcinogen_to_R-loop-induced_replication_stress.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::15f0fc7abbb64a8fe046ce2b03dd015eTest
http://link.springer.comTest/article /10.1038/s41467-020-18857-z -
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المؤلفون: Marcia Edelweiss, Raluca Mihai, Britta Weigelt, Ian O. Ellis, Achim A. Jungbluth, Maria Pia Foschini, Zsuzsanna Varga, Jorge S. Reis-Filho, Edi Brogi, Fresia Pareja, Mahsa Vahdatinia, Michael S. Toss, Pier Selenica, Hannah Y Wen, Austin Szatrowski, Emad A. Rakha, Brian P. Rubin, Felipe C Geyer, Sarat Chandarlapaty, Edaise M da Silva, Ana Paula Martins Sebastiao
المساهمون: University of Zurich, Reis-Filho, Jorge S, Pareja F., Toss M.S., Geyer F.C., da Silva E.M., Vahdatinia M., Sebastiao A.P.M., Selenica P., Szatrowski A., Edelweiss M., Wen H.Y., Mihai R., Varga Z., Foschini M.P., Rubin B.P., Ellis I.O., Chandarlapaty S., Jungbluth A.A., Brogi E., Weigelt B., Reis-Filho J.S., Rakha E.A.
المصدر: Histopathology
مصطلحات موضوعية: Adult, 0301 basic medicine, Histology, Mitotic index, Breast Neoplasms, 610 Medicine & health, Sensitivity and Specificity, 2722 Histology, Article, Pathology and Forensic Medicine, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, 10049 Institute of Pathology and Molecular Pathology, Biomarkers, Tumor, Humans, HRAS, breast, Sanger sequencing, Massive parallel sequencing, biology, Myoepithelial cell, General Medicine, Immunohistochemistry, Molecular biology, 2734 Pathology and Forensic Medicine, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Monoclonal, symbols, biology.protein, Adenomyoepithelioma, Female, Antibody
وصف الملف: Pareja_et_al-2019-Histopathology.pdf - application/pdf; STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2098c81944e49ea30161fd69a03e1543Test
https://doi.org/10.1111/his.14057Test -
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المؤلفون: Egle Ramelyte, Melike Ak, Mitchell P. Levesque, Abdullah Kahraman, Patrick Turko, Reinhard Dummer, Fabian M. Arnold, Martin Zoche
المساهمون: University of Zurich, Dummer, Reinhard
المصدر: Genes, Vol 12, Iss 974, p 974 (2021)
Genes
Volume 12
Issue 7مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Skin Neoplasms, DNA Mutational Analysis, QH426-470, 0302 clinical medicine, CDKN2A, Genetics(clinical), Receptor, Notch1, Telomerase, Genetics (clinical), Likely pathogenic, Aged, 80 and over, High-Throughput Nucleotide Sequencing, 10177 Dermatology Clinic, Sarcoma, Genomics, Middle Aged, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, Immunohistochemistry, Female, Microsatellite Instability, atypical fibroxanthoma, medicine.medical_specialty, 2716 Genetics (clinical), 610 Medicine & health, Biology, Article, DNA sequencing, 03 medical and health sciences, 1311 Genetics, pleomorphic dermal sarcoma, 10049 Institute of Pathology and Molecular Pathology, Biomarkers, Tumor, Xanthomatosis, medicine, Genetics, Humans, Gene, Cyclin-Dependent Kinase Inhibitor p16, Aged, tumor genomic profiling, Atypical fibroxanthoma, medicine.disease, Repressor Proteins, genomic DNA, 030104 developmental biology, Mutation, next-generation sequencing, Tumor Suppressor Protein p53
وصف الملف: 902_Ak_M._et_al._Clinicopathological_and_Genomic_Profiles_of_Atypical_Fibroxanthoma_and_Pleomorphic_Dermal_Sarcoma_Identify_Overlapping_Genes_2021.pdf - application/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0398f3698f16f748f412c26e2f98839fTest
https://www.zora.uzh.ch/id/eprint/206020Test/ -
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المؤلفون: Mikhail Skoblov, Marina V. Kurkina, Andrey Nekrasov, Galina Baydakova, Artur Galushkin, Alexandra Ilyushkina, Igor Bychkov, Alexandra Filatova, Ekaterina Zakharova
المصدر: International Journal of Molecular Sciences
Volume 22
Issue 8
International Journal of Molecular Sciences, Vol 22, Iss 4154, p 4154 (2021)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Propionic Acidemia, PCCA and PCCB, QH301-705.5, RNA Splicing, 030105 genetics & heredity, Biology, medicine.disease_cause, Catalysis, Article, Cell Line, functional analysis, Inorganic Chemistry, 03 medical and health sciences, Loss of Function Mutation, medicine, Missense mutation, Humans, Physical and Theoretical Chemistry, Propionic acidemia, Biology (General), variant classification, Molecular Biology, Gene, QD1-999, Spectroscopy, Genetics, Mutation, Molecular pathology, Organic Chemistry, splicing variants, General Medicine, medicine.disease, Computer Science Applications, Chemistry, 030104 developmental biology, Carbon-Carbon Ligases, RNA splicing, Medical genetics, Minigene
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc468ed36a92ce0fbd7fa38c2ddf098fTest
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المؤلفون: Aashil A. Batavia, Ariane L. Moore, Christian Beisel, Elodie Burcklen, Jack Kuipers, Jochen Singer, Peter Schraml, Holger Moch, Niko Beerenwinkel
المساهمون: University of Zurich
المصدر: Cancers, Vol 13, Iss 2163, p 2163 (2021)
Cancers, 13 (9)
Cancers
Volume 13
Issue 9مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Tumour heterogeneity, 610 Medicine & health, Gene mutation, Biology, medicine.disease_cause, Somatic evolution in cancer, Article, PBRM1, 03 medical and health sciences, private mutations, 0302 clinical medicine, SETD2, 10049 Institute of Pathology and Molecular Pathology, medicine, RC254-282, 030304 developmental biology, 0303 health sciences, BAP1, Mutation, Cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, intra-tumour heterogeneity, clonal exclusivity, 3. Good health, Clear cell renal cell carcinoma, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Cancer research
وصف الملف: application/application/pdf; Moore_cancers_2021.pdf - application/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d37097fb151ec1c868b80a75b9a50d1Test
https://www.mdpi.com/2072-6694/13/9/2163Test -
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المؤلفون: Tang Hai, Jianguo Zhao, Ruigao Song, Chunwei Cao, Yongshun Li, Hongyong Zhang, Qiantao Zheng, Hong Wei, Sin Man Lam, Xiao Wang, Qitao Jia, Guanghou Shui, Zhonghua Liu, Ying Zhang, Jing Yao, Yanfang Wang, Guosong Qin, Anming Meng, Qi Zhou
المصدر: Journal of Molecular Cell Biology
مصطلحات موضوعية: 0301 basic medicine, Swine, medicine.drug_class, Mutant, Biology, medicine.disease_cause, Article, Acitretin, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, deep intronic mutation, Genetics, medicine, Animals, Retinoid, ABCA12, harlequin ichthyosis, Molecular Biology, Gene, pig model, Mutation, Molecular pathology, Cell Biology, General Medicine, Harlequin Ichthyosis, ENU mutagenesis, Editor's Choice, 030104 developmental biology, Cancer research, biology.protein, acitretin, Ichthyosis, Lamellar, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac575367727ef3c7239e8d6c96f5e91fTest
https://doi.org/10.1093/jmcb/mjz021Test -
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المؤلفون: Michael Walsh, Michael W. Drazer, Deborah I. Ritter, Kenneth Offit, Minjie Luo, Elizabeth C. Chao, Diana Mandelker, Dmitriy Sonkin, Liying Zhang, Yelena Kemel, Dale Hedges, Gang Wu, Sharon E. Plon, Shashikant Kulkarni, Debyani Chakravarty, Kristy Lee, Rajarshi Ghosh, Chimene Kesserwan, Ozge Ceyhan-Birsoy
المصدر: Human Mutation. 39:1542-1552
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Somatic cell, Genomics, Computational biology, Biology, Genome, Article, Germline, Loss of heterozygosity, 03 medical and health sciences, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele, Alleles, Germ-Line Mutation, Genetics (clinical), Genome, Human, Molecular pathology, Computational Biology, Genetic Variation, 030104 developmental biology, Mutation, Medical genetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af9137ca24884154d48d3c27d22a0d6Test
https://doi.org/10.1002/humu.23640Test -
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المؤلفون: Jonathan S. Berg, Sarah E. Brnich, Edgar A. Rivera-Munoz
المصدر: Human Mutation. 39:1531-1541
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Bayesian probability, Genomics, Computational biology, Biology, Genome, Article, 03 medical and health sciences, Genetics, medicine, Humans, Genetic Testing, Categorical variable, Societies, Medical, Genetics (clinical), Interpretation (logic), Genome, Human, Molecular pathology, Assertion, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Bayes Theorem, Sequence Analysis, DNA, United States, 030104 developmental biology, Mutation, Medical genetics, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503511742fdf17c57a6dc109339f3073Test
https://doi.org/10.1002/humu.23609Test -
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المؤلفون: Jessica X. Chong, Deborah A. Nickerson, Donna M. Martin, Margaret A. Hefner, Stephanie L. Bielas, Jennifer M. Skidmore, Anshika Srivastava, John A. Bernat, Amanda Moccia, Michael J. Bamshad, Marsha M. Wheeler
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Biology, Genetic analysis, Article, Epigenesis, Genetic, Chromodomain, Cohort Studies, 03 medical and health sciences, CHARGE syndrome, Genetics, medicine, Humans, Exome, Genetic Testing, Epigenetics, Child, EP300, Gene, Genetics (clinical), Molecular pathology, DNA Helicases, Infant, medicine.disease, Chromatin, Neoplasm Proteins, DNA-Binding Proteins, Repressor Proteins, Oligogenicity, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Female, RNA Splicing Factors, CHARGE Syndrome, Carrier Proteins, CHARGE, E1A-Associated p300 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fedb905aee2f8e5327b7901e21eb7e5Test
https://doi.org/10.1038/gim.2017.233Test