المؤلفون: Olkinuora, Alisa, Mäki-Nevala, Satu, Ukwattage, Sanjeevi, Ristimäki, Ari, Ahtiainen, Maarit, Mecklin, Jukka-Pekka, Peltomäki, Päivi

المساهمون: Department of Medical and Clinical Genetics, Department of Pathology, ATG - Applied Tumor Genomics, HUSLAB, HUS Diagnostic Center

مصطلحات موضوعية: exome sequencing, Lynch syndrome, multiple adenomas, panel sequencing, RNF43, Cancers

وصف الملف: application/pdf

Relation: The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by grants from Biomedicum Helsinki Foundation (to AO); the Jane and Aatos Erkko Foundation (to PP); the Academy of Finland (grant number 330606 to PP, and 331284 to SM-N); Cancer Foundation Finland sr (to AO, PP, and AR); the Finska L\u00E4kares\u00E4llskapet (to AR); Medicinska Underst\u00F6dsf\u00F6reningen Liv & H\u00E4lsa (to AR); Helsinki University Central Hospital Research Funds (to AR); and the Sigrid Juselius Foundation (to PP and AR). The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by grants from Biomedicum Helsinki Foundation (to AO); the Jane and Aatos Erkko Foundation (to PP); the Academy of Finland (grant number 330606 to PP, and 331284 to SM-N); Cancer Foundation Finland sr (to AO, PP, and AR); the Finska L\u00E4kares\u00E4llskapet (to AR); Medicinska Underst\u00F6dsf\u00F6reningen Liv & H\u00E4lsa (to AR); Helsinki University Central Hospital Research Funds (to AR); and the Sigrid Juselius Foundation (to PP and AR). Acknowledgments; Olkinuora , A , Mäki-Nevala , S , Ukwattage , S , Ristimäki , A , Ahtiainen , M , Mecklin , J-P & Peltomäki , P 2024 , ' Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors ' , Frontiers in oncology , vol. 14 , 1378392 . https://doi.org/10.3389/fonc.2024.1378392; ORCID: /0000-0001-8819-2980/work/161251457; ORCID: /0000-0003-3987-9924/work/161254926; http://hdl.handle.net/10138/576579; 41a73193-c166-46a4-b635-2decfd29b24a; 85192574743; 001216471900001

الاتاحة: http://hdl.handle.net/10138/576579

المؤلفون: Pussila, Marjaana, Laiho, Aleksi, Törönen, Petri, Björkbacka, Pauliina, Nykänen, Sonja, Pylvänäinen, Kirsi, Holm, Liisa, Mecklin, Jukka-Pekka, Renkonen-Sinisalo, Laura, Lehtonen, Taru, Lepistö, Anna, Linden, Jere, Mäki-Nevala, Satu, Peltomäki, Päivi, Nyström, Minna

مصطلحات موضوعية: Lynch syndrome, chromosomal instability, colon cancer, field defect, mismatch repair, kasvaimet, Lynchin oireyhtymä, geenit, syöpätaudit

وصف الملف: application/pdf; fulltext

Relation: EBioMedicine; 103; CONVID_207855364

الاتاحة: http://urn.fi/URN:NBN:fi:jyu-202404102824

المؤلفون: Mäki-Nevala, Satu, Ukwattage, Sanjeevi, Wirta, Erkki Ville, Ahtiainen, Maarit, Ristimäki, Ari, Seppälä, Toni T., Lepistö, Anna, Mecklin, Jukka Pekka, Peltomäki, Päivi

المساهمون: Tampere University, Department of Gastroenterology

مصطلحات موضوعية: 3121 Internal medicine, 3126 Surgery, anesthesiology, intensive care, radiology

وصف الملف: fulltext

Relation: 1440; 10; 11; https://trepo.tuni.fi/handle/10024/135286

الاتاحة: https://trepo.tuni.fi/handle/10024/135286
https://doi.org/10.3390/biom11101440

المؤلفون: Mäki-Nevala, Satu, Ukwattage, Sanjeevi, Olkinuora, Alisa, Almusa, Henrikki, Ahtiainen, Maarit, Ristimäki, Ari, Seppälä, Toni, Lepistö, Anna, Mecklin, Jukka-Pekka, Peltomäki, Päivi

المساهمون: Department of Medical and Clinical Genetics, University of Helsinki, Institute for Molecular Medicine Finland, Department of Pathology, HUSLAB, Helsinki University Hospital Area, ATG - Applied Tumor Genomics, Research Programs Unit, HUS Abdominal Center, Clinicum, II kirurgian klinikka, Department of Surgery, University Management

مصطلحات موضوعية: colorectal cancer, Lynch syndrome, microsatellite instability, somatic mutation, Ulcerative colitis, Cancers

وصف الملف: application/pdf

Relation: We thank Saila Saarinen for technical support and Satu Valo for coordinating UC sample collection. We also thank the Core facility Sequencing Unit at FIMM Technology Centre supported by University of Helsinki and Biocenter Finland. This study was supported by Jane and Aatos Erkko Foundation (to Päivi Peltomäki and Jukka‐Pekka Mecklin); the Academy of Finland (grant numbers 294643 and 330606 to Päivi Peltomäki and 331284 to Satu Mäki‐Nevala); the Finnish Cancer Foundation (to Päivi Peltomäki, Jukka‐Pekka Mecklin and Ari Ristimäki); the Sigrid Juselius Foundation (to Päivi Peltomäki and Ari Ristimäki) and the HiLIFE Fellows 2017‐2020 (to Päivi Peltomäki). We thank Saila Saarinen for technical support and Satu Valo for coordinating UC sample collection. We also thank the Core facility Sequencing Unit at FIMM Technology Centre supported by University of Helsinki and Biocenter Finland. This study was supported by Jane and Aatos Erkko Foundation (to P?ivi Peltom?ki and Jukka-Pekka Mecklin); the Academy of Finland (grant numbers 294643 and 330606 to P?ivi Peltom?ki and 331284 to Satu M?ki-Nevala); the Finnish Cancer Foundation (to P?ivi Peltom?ki, Jukka-Pekka Mecklin and Ari Ristim?ki); the Sigrid Juselius Foundation (to P?ivi Peltom?ki and Ari Ristim?ki) and the HiLIFE Fellows 2017-2020 (to P?ivi Peltom?ki).; Mäki-Nevala , S , Ukwattage , S , Olkinuora , A , Almusa , H , Ahtiainen , M , Ristimäki , A , Seppälä , T , Lepistö , A , Mecklin , J-P & Peltomäki , P 2021 , ' Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer ' , International Journal of Cancer , vol. 148 , no. 12 , pp. 2997-3007 . https://doi.org/10.1002/ijc.33492; ORCID: /0000-0002-5866-4059/work/98919486; ORCID: /0000-0002-4940-3498/work/98919926; ORCID: /0000-0001-8819-2980/work/98920976; ORCID: /0000-0003-3987-9924/work/98921143; http://hdl.handle.net/10138/333473; 0fe1c64f-c311-4a28-8605-15c43c28bb6a; 000617507000001

الاتاحة: http://hdl.handle.net/10138/333473

المؤلفون: Mäki‐Nevala, Satu, Ukwattage, Sanjeevi, Olkinuora, Alisa, Almusa, Henrikki, Ahtiainen, Maarit, Ristimäki, Ari, Seppälä, Toni, Lepistö, Anna, Mecklin, Jukka‐Pekka, Peltomäki, Päivi

مصطلحات موضوعية: ulcerative colitis, Lynch syndrome, colorectal cancer, microsatellite instability, somatic mutation, Lynchin oireyhtymä, mutaatiot, DNA-analyysi, syöpätaudit, tulehdukselliset suolistosairaudet, mikrosatelliitit, suolistosyövät

وصف الملف: application/pdf; 2997-3007; fulltext

Relation: International Journal of Cancer; 12; 148; CONVID_51355012

الاتاحة: http://urn.fi/URN:NBN:fi:jyu-202104232473

المؤلفون: Mäki-Nevala, Satu, Peltomäki, Päivi

المصدر: Epigenetics and Human Health ; Cancer Epigenetics ; page 3-29 ; ISSN 2191-2262 2191-2270 ; ISBN 9783031423642 9783031423659

الاتاحة: http://dx.doi.org/10.1007/978-3-031-42365-9_1
https://link.springer.com/content/pdf/10.1007/978-3-031-42365-9_1

المؤلفون: Mäki-Nevala, Satu, Valo, Satu, Ristimaki, Ari, Sarhadi, Virinder, Knuutila, Sakari, Nyström, Minna, Renkonen-Sinisalo, Laura, Lepistö, Anna, Mecklin, Jukka-Pekka, Peltomäki, Päivi

المساهمون: Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Department of Pathology, HUSLAB, Genome-Scale Biology (GSB) Research Program, Clinicum, Research Programs Unit, Molecular and Integrative Biosciences Research Programme, Doctoral Programme in Integrative Life Science, Minna Nyström / Principal Investigator, Genetics, Biosciences, Department of Surgery, II kirurgian klinikka, HUS Abdominal Center

مصطلحات موضوعية: Lynch syndrome, Colorectal adenoma, DNA methylation, DNA mismatch repair, UNE-1 methylation, Mutation, Tumotigenesis, Tumor suppressor, MICROSATELLITE INSTABILITY, COLORECTAL ADENOMAS, BRAF MUTATION, COPY NUMBER, CANCER, GENE, DEFICIENCY, PHENOTYPE, TUMORS, HYPOMETHYLATION, Biomedicine, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: We thank the patients contributing to this study. We thank Beatriz Alcala-Repo and Kirsi Pylvanainen for collecting the samples and patient information. Saila Saarinen and Omar Youssef are thanked for laboratory support. The work was funded by the Jane and Aatos Erkko Foundation (MN, J-PM, and PP), Academy of Finland (grant no. 294643) (PP), the Cancer Foundation Finland (J-PM and PP), the Sigrid Juselius Foundation (PP), and HiLIFE (PP). Funding sources had no involvement in the study design, in the collection, analysis, or interpretation of data, in the writing, nor in the decision to submit the paper for publication.; Mäki-Nevala , S , Valo , S , Ristimaki , A , Sarhadi , V , Knuutila , S , Nyström , M , Renkonen-Sinisalo , L , Lepistö , A , Mecklin , J-P & Peltomäki , P 2019 , ' DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression ' , EBioMedicine , vol. 39 , pp. 280-291 . https://doi.org/10.1016/j.ebiom.2018.12.018; ORCID: /0000-0002-5866-4059/work/54150637; ORCID: /0000-0003-0827-0243/work/54151442; ORCID: /0000-0001-8819-2980/work/54151590; http://hdl.handle.net/10138/298910; 2979e9b4-7a48-41c0-a49b-d8cd204a7fd9; 85058577754; 000456677400038

الاتاحة: http://hdl.handle.net/10138/298910

المؤلفون: Porkka, Noora, Valo, Satu, Nieminen, Taina T., Olkinuora, Alisa, Mäki-Nevala, Satu, Eldfors, Samuli, Peltomäki, Päivi

المساهمون: Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Institute for Molecular Medicine Finland

مصطلحات موضوعية: Genetics, developmental biology, physiology, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: Porkka , N , Valo , S , Nieminen , T T , Olkinuora , A , Mäki-Nevala , S , Eldfors , S & Peltomäki , P 2017 , ' Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations ' , Oncotarget , vol. 8 , no. 64 , pp. 108020-108030 . https://doi.org/10.18632/oncotarget.22445; ORCID: /0000-0002-9294-2585/work/40902768; ORCID: /0000-0001-8819-2980/work/40899509; ORCID: /0000-0001-5056-4750/work/40902515; ORCID: /0000-0003-3987-9924/work/91299527; http://hdl.handle.net/10138/231431; 6333c4c4-d62b-44fc-bedc-8c7ec4d97cd6; 85037332179; 000419564600052

الاتاحة: http://hdl.handle.net/10138/231431

المؤلفون: Mäki-Nevala, Satu, Knuuttila, Aija, Knuutila, Sakari, Sarhadi, Virinder Kaur

المساهمون: Medicum, Department of Pathology, Clinicum, Department of Medicine, Keuhkosairauksien yksikkö

مصطلحات موضوعية: Biomedicine, Cancers

وصف الملف: application/pdf

Relation: Mäki-Nevala , S , Knuuttila , A , Knuutila , S & Sarhadi , V K 2016 , ' Concordant Results of Epidermal Growth Factor Receptor Mutation Detection by Real-Time Polymerase Chain Reaction and Ion Torrent Technology in Non-Small Cell Lung Cancer ' , Journal of Clinical Respiratory Diseases and Care , vol. 2 , no. 1 . https://doi.org/10.4172/2472-1247.1000107; http://hdl.handle.net/10138/174104; f8f1ff00-ad3b-4295-a9bb-73995735e346

الاتاحة: http://hdl.handle.net/10138/174104

المؤلفون: Mäki-Nevala, Satu, Rönty, Mikko, Morel, Mike, Gomez, Maria, Dawson, Zoe, Sarhadi, Virinder Kaur, Telaranta-Keerie, Aino, Knuuttila, Aija, Knuutila, Sakari

المصدر: Journal of Thoracic Oncology ; volume 9, issue 6, page 886-891 ; ISSN 1556-0864

الاتاحة: http://dx.doi.org/10.1097/jto.0000000000000132
https://api.elsevier.com/content/article/PII:S1556086415303142?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1556086415303142?httpAccept=text/plain

المؤلفون: Mäki-Nevala, Satu, Sarhadi, Virinder Kaur, Rönty, Mikko, Kettunen, Eeva, Husgafvel-Pursiainen, Kirsti, Wolff, Henrik, Knuuttila, Aija, Knuutila, Sakari

المصدر: Lung Cancer ; volume 99, page 102-110 ; ISSN 0169-5002

الاتاحة: http://dx.doi.org/10.1016/j.lungcan.2016.06.024
https://api.elsevier.com/content/article/PII:S0169500216303828?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0169500216303828?httpAccept=text/plain

المؤلفون: Mäki-Nevala, Satu, Sarhadi, Virinder Kaur, Knuuttila, Aija, Scheinin, Ilari, Ellonen, Pekka, Lagström, Sonja, Rönty, Mikko, Kettunen, Eeva, Husgafvel-Pursiainen, Kirsti, Wolff, Henrik, Knuutila, Sakari

المساهمون: The Finnish Work Environment Fund, Sigrid Jusélius Foundation, Cancer Society of Finland

المصدر: Lung ; volume 194, issue 1, page 125-135 ; ISSN 0341-2040 1432-1750

الاتاحة: http://dx.doi.org/10.1007/s00408-015-9814-7
http://link.springer.com/content/pdf/10.1007/s00408-015-9814-7.pdf
http://link.springer.com/article/10.1007/s00408-015-9814-7/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00408-015-9814-7

المؤلفون: Tuononen, Katja, Kero, Mia, Mäki‐Nevala, Satu, Sarhadi, Virinder Kaur, Tikkanen, Milja, Wirtanen, Tiina, Rönty, Mikko, Knuuttila, Aija, Knuutila, Sakari

المساهمون: Cancer Society of Finland, Sigrid Juselius Foundation, The Finnish Work Environment Fund

المصدر: Genes, Chromosomes and Cancer ; volume 53, issue 11, page 895-901 ; ISSN 1045-2257 1098-2264

الاتاحة: http://dx.doi.org/10.1002/gcc.22198
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fgcc.22198
https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.22198

المؤلفون: University of Helsinki, Medicum, University of Helsinki, Clinicum, Mäki-Nevala, Satu, Knuuttila, Aija, Knuutila, Sakari, Sarhadi, Virinder Kaur

المصدر: Mäki-Nevala , S , Knuuttila , A , Knuutila , S & Sarhadi , V K 2016 , ' Concordant Results of Epidermal Growth Factor Receptor Mutation Detection by Real-Time Polymerase Chain Reaction and Ion Torrent Technology in Non-Small Cell Lung Cancer ' Journal of Clinical Respiratory Diseases and Care , vol 2 , no. 1 . DOI: 10.4172/2472-1247.1000107

مصطلحات الفهرس: 3111 Biomedicine, 3122 Cancers, A1 Refereed journal article, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: http://hdl.handle.net/10138/174104
Journal of Clinical Respiratory Diseases and Care

المؤلفون: Tuononen, Katja, Mäki‐Nevala, Satu, Sarhadi, Virinder Kaur, Wirtanen, Aino, Rönty, Mikko, Salmenkivi, Kaisa, Andrews, Jenny M., Telaranta‐Keerie, Aino I., Hannula, Sari, Lagström, Sonja, Ellonen, Pekka, Knuuttila, Aija, Knuutila, Sakari

المصدر: Genes, Chromosomes and Cancer ; volume 52, issue 5, page 503-511 ; ISSN 1045-2257 1098-2264

الاتاحة: http://dx.doi.org/10.1002/gcc.22047
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fgcc.22047
https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.22047

المؤلفون: Mäki‐Nevala, Satu, Kaur Sarhadi, Virinder, Tuononen, Katja, Lagström, Sonja, Ellonen, Pekka, Rönty, Mikko, Wirtanen, Aino, Knuuttila, Aija, Knuutila, Sakari

المصدر: Genes, Chromosomes and Cancer ; volume 52, issue 12, page 1141-1149 ; ISSN 1045-2257 1098-2264

الاتاحة: http://dx.doi.org/10.1002/gcc.22109
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fgcc.22109
https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.22109

المؤلفون: Mäki-Nevala, Satu, Sarhadi, Virinder, Knuuttila, Aija, Scheinin, Ilari, Ellonen, Pekka, Lagström, Sonja, Rönty, Mikko, Kettunen, Eeva, Husgafvel-Pursiainen, Kirsti, Wolff, Henrik, Knuutila, Sakari

المصدر: Lung; Feb2016, Vol. 194 Issue 1, p125-135, 11p

مصطلحات موضوعية: TOXICOLOGY of asbestos, CARCINOGENS, MESOTHELIOMA, LUNG cancer, GENETIC mutation

المؤلفون: Mäki-Nevala, Satu

المساهمون: University of Helsinki, Faculty of Medicine, Haartman Institute, Department of Pathology, Helsingin yliopisto, lääketieteellinen tiedekunta, kliinisteoreettinen laitos, Helsingfors universitet, medicinska fakulteten, Haartman institutet, Pääkkö, Paavo, Knuutila, Sakari, Sarhadi, Virinder Kaur

مصطلحات موضوعية: syöpägenetiikka

وصف الملف: application/pdf

Relation: URN:ISBN:978-951-51-2426-5; 2016, 2342-3161; URN:ISSN:2342-317X; http://hdl.handle.net/10138/166987; URN:ISBN:978-951-51-2427-2

الاتاحة: http://hdl.handle.net/10138/166987