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  1. AU="Mervi Aavikko"
  2. AU=Miller Allison K
  3. AU="Radonjic-Hoesli, Susanne"
  4. AU="Dhar, Shabir Ahmed"
  5. AU="Munguia-Soto, Esteban O"
  6. AU="Sarah Elhourch" AU="Sarah Elhourch"
  7. AU="Wong, M Y Anita"
  8. AU="Nategholeslam, Mostafa"

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  1. Artikel ; Online: Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

    Tatiana Cajuso / Päivi Sulo / Tomas Tanskanen / Riku Katainen / Aurora Taira / Ulrika A. Hänninen / Johanna Kondelin / Linda Forsström / Niko Välimäki / Mervi Aavikko / Eevi Kaasinen / Ari Ristimäki / Selja Koskensalo / Anna Lepistö / Laura Renkonen-Sinisalo / Toni Seppälä / Teijo Kuopio / Jan Böhm / Jukka-Pekka Mecklin /
    Outi Kilpivaara / Esa Pitkänen / Kimmo Palin / Lauri A. Aaltonen

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Band 9

    Abstract: Retrotransposons are usually dormant in healthy tissue, but become activated during malignancy. Here, in colorectal cancer, Cajuso et al. show that retrotransposon activity associates with clinical features of the disease. ...

    Abstract Retrotransposons are usually dormant in healthy tissue, but become activated during malignancy. Here, in colorectal cancer, Cajuso et al. show that retrotransposon activity associates with clinical features of the disease.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2019-09-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

    Tatiana Cajuso / Päivi Sulo / Tomas Tanskanen / Riku Katainen / Aurora Taira / Ulrika A. Hänninen / Johanna Kondelin / Linda Forsström / Niko Välimäki / Mervi Aavikko / Eevi Kaasinen / Ari Ristimäki / Selja Koskensalo / Anna Lepistö / Laura Renkonen-Sinisalo / Toni Seppälä / Teijo Kuopio / Jan Böhm / Jukka-Pekka Mecklin /
    Outi Kilpivaara / Esa Pitkänen / Kimmo Palin / Lauri A. Aaltonen

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Band 9

    Abstract: Retrotransposons are usually dormant in healthy tissue, but become activated during malignancy. Here, in colorectal cancer, Cajuso et al. show that retrotransposon activity associates with clinical features of the disease. ...

    Abstract Retrotransposons are usually dormant in healthy tissue, but become activated during malignancy. Here, in colorectal cancer, Cajuso et al. show that retrotransposon activity associates with clinical features of the disease.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2019-09-01T00:00:00Z
    Verlag Nature Publishing Group
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

    Eevi Kaasinen / Outi Kuismin / Kristiina Rajamäki / Heikki Ristolainen / Mervi Aavikko / Johanna Kondelin / Silva Saarinen / Davide G. Berta / Riku Katainen / Elina A. M. Hirvonen / Auli Karhu / Aurora Taira / Tomas Tanskanen / Amjad Alkodsi / Minna Taipale / Ekaterina Morgunova / Kaarle Franssila / Rainer Lehtonen / Markus Mäkinen /
    Kristiina Aittomäki / Aarno Palotie / Mitja I. Kurki / Olli Pietiläinen / Morgane Hilpert / Elmo Saarentaus / Jaakko Niinimäki / Juhani Junttila / Kari Kaikkonen / Pia Vahteristo / Radek C. Skoda / Mikko R. J. Seppänen / Kari K. Eklund / Jussi Taipale / Outi Kilpivaara / Lauri A. Aaltonen

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Band 17

    Abstract: Somatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, ... ...

    Abstract Somatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, finding elevated blood DNA methylation levels and no predisposition to atherosclerosis
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2019-03-01T00:00:00Z
    Verlag Nature Publishing Group
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.

    Eevi Kaasinen / Mervi Aavikko / Pia Vahteristo / Toni Patama / Yilong Li / Silva Saarinen / Outi Kilpivaara / Esa Pitkänen / Paul Knekt / Maarit Laaksonen / Miia Artama / Rainer Lehtonen / Lauri A Aaltonen / Eero Pukkala

    PLoS ONE, Vol 8, Iss 1, p e

    2013  Band 55209

    Abstract: Many cancer predisposition syndromes are rare or have incomplete penetrance, and traditional epidemiological tools are not well suited for their detection. Here we have used an approach that employs the entire population based data in the Finnish Cancer ... ...

    Abstract Many cancer predisposition syndromes are rare or have incomplete penetrance, and traditional epidemiological tools are not well suited for their detection. Here we have used an approach that employs the entire population based data in the Finnish Cancer Registry (FCR) for analyzing familial aggregation of all types of cancer, in order to find evidence for previously unrecognized cancer susceptibility conditions. We performed a systematic clustering of 878,593 patients in FCR based on family name at birth, municipality of birth, and tumor type, diagnosed between years 1952 and 2011. We also estimated the familial occurrence of the tumor types using cluster score that reflects the proportion of patients belonging to the most significant clusters compared to all patients in Finland. The clustering effort identified 25,910 birth name-municipality based clusters representing 183 different tumor types characterized by topography and morphology. We produced information about familial occurrence of hundreds of tumor types, and many of the tumor types with high cluster score represented known cancer syndromes. Unexpectedly, Kaposi sarcoma (KS) also produced a very high score (cluster score 1.91, p-value <0.0001). We verified from population records that many of the KS patients forming the clusters were indeed close relatives, and identified one family with five affected individuals in two generations and several families with two first degree relatives. Our approach is unique in enabling systematic examination of a national epidemiological database to derive evidence of aberrant familial aggregation of all tumor types, both common and rare. It allowed effortless identification of families displaying features of both known as well as potentially novel cancer predisposition conditions, including striking familial aggregation of KS. Further work with high-throughput methods should elucidate the molecular basis of the potentially novel predisposition conditions found in this study.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2013-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

    Eevi Kaasinen / Outi Kuismin / Kristiina Rajamäki / Heikki Ristolainen / Mervi Aavikko / Johanna Kondelin / Silva Saarinen / Davide G. Berta / Riku Katainen / Elina A. M. Hirvonen / Auli Karhu / Aurora Taira / Tomas Tanskanen / Amjad Alkodsi / Minna Taipale / Ekaterina Morgunova / Kaarle Franssila / Rainer Lehtonen / Markus Mäkinen /
    Kristiina Aittomäki / Aarno Palotie / Mitja I. Kurki / Olli Pietiläinen / Morgane Hilpert / Elmo Saarentaus / Jaakko Niinimäki / Juhani Junttila / Kari Kaikkonen / Pia Vahteristo / Radek C. Skoda / Mikko R. J. Seppänen / Kari K. Eklund / Jussi Taipale / Outi Kilpivaara / Lauri A. Aaltonen

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Band 17

    Abstract: Somatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, ... ...

    Abstract Somatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, finding elevated blood DNA methylation levels and no predisposition to atherosclerosis
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2019-03-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel ; Online: Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer

    Johanna Kondelin / Kari Salokas / Lilli Saarinen / Kristian Ovaska / Heli Rauanheimo / Roosa‐Maria Plaketti / Jiri Hamberg / Xiaonan Liu / Leena Yadav / Alexandra E Gylfe / Tatiana Cajuso / Ulrika A Hänninen / Kimmo Palin / Heikki Ristolainen / Riku Katainen / Eevi Kaasinen / Tomas Tanskanen / Mervi Aavikko / Minna Taipale /
    Jussi Taipale / Laura Renkonen‐Sinisalo / Anna Lepistö / Selja Koskensalo / Jan Böhm / Jukka‐Pekka Mecklin / Halit Ongen / Emmanouil T Dermitzakis / Outi Kilpivaara / Pia Vahteristo / Mikko Turunen / Sampsa Hautaniemi / Sari Tuupanen / Auli Karhu / Niko Välimäki / Markku Varjosalo / Esa Pitkänen / Lauri A Aaltonen

    EMBO Molecular Medicine, Vol 10, Iss 9, Pp n/a-n/a (2018)

    2018  

    Abstract: Abstract Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite‐stable ...

    Abstract Abstract Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite‐stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV. Somatic point mutation data from the exome kit‐targeted area from 24 exome‐sequenced sporadic MSI CRCs and respective normals, and 12 whole‐genome‐sequenced sporadic MSI CRCs and respective normals were utilized. The top 73 genes were validated in 93 additional MSI CRCs. The MutSigCV ranking identified several well‐established MSI CRC driver genes and provided additional evidence for previously proposed CRC candidate genes as well as shortlisted genes that have to our knowledge not been linked to CRC before. Two genes, SMARCB1 and STK38L, were also functionally scrutinized, providing evidence of a tumorigenic role, for SMARCB1 mutations in particular.
    Schlagwörter cancer genetics ; colorectal cancer ; microsatellite instability ; Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Sprache Englisch
    Erscheinungsdatum 2018-09-01T00:00:00Z
    Verlag Wiley
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel ; Online: Uterine Leiomyoma-Linked MED12 Mutations Disrupt Mediator-Associated CDK Activity

    Mikko Turunen / Jason M. Spaeth / Salla Keskitalo / Min Ju Park / Teemu Kivioja / Alison D. Clark / Netta Mäkinen / Fangjian Gao / Kimmo Palin / Helka Nurkkala / Anna Vähärautio / Mervi Aavikko / Kati Kämpjärvi / Pia Vahteristo / Chongwoo A. Kim / Lauri A. Aaltonen / Markku Varjosalo / Jussi Taipale / Thomas G. Boyer

    Cell Reports, Vol 7, Iss 3, Pp 654-

    2014  Band 660

    Abstract: Somatic mutations in exon 2 of the RNA polymerase II transcriptional Mediator subunit MED12 occur at very high frequency (∼70%) in uterine leiomyomas. However, the influence of these mutations on Mediator function and the molecular basis for their ... ...

    Abstract Somatic mutations in exon 2 of the RNA polymerase II transcriptional Mediator subunit MED12 occur at very high frequency (∼70%) in uterine leiomyomas. However, the influence of these mutations on Mediator function and the molecular basis for their tumorigenic potential remain unknown. To clarify the impact of these mutations, we used affinity-purification mass spectrometry to establish the global protein-protein interaction profiles for both wild-type and mutant MED12. We found that uterine leiomyoma-linked mutations in MED12 led to a highly specific decrease in its association with Cyclin C-CDK8/CDK19 and loss of Mediator-associated CDK activity. Mechanistically, this occurs through disruption of a MED12-Cyclin C binding interface that we also show is required for MED12-mediated stimulation of Cyclin C-dependent CDK8 kinase activity. These findings indicate that uterine leiomyoma-linked mutations in MED12 uncouple Cyclin C-CDK8/19 from core Mediator and further identify the MED12/Cyclin C interface as a prospective therapeutic target in CDK8-driven cancers.
    Schlagwörter Biology (General) ; QH301-705.5
    Sprache Englisch
    Erscheinungsdatum 2014-05-01T00:00:00Z
    Verlag Elsevier
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  8. Artikel ; Online: Contribution of allelic imbalance to colorectal cancer

    Kimmo Palin / Esa Pitkänen / Mikko Turunen / Biswajyoti Sahu / Päivi Pihlajamaa / Teemu Kivioja / Eevi Kaasinen / Niko Välimäki / Ulrika A. Hänninen / Tatiana Cajuso / Mervi Aavikko / Sari Tuupanen / Outi Kilpivaara / Linda van den Berg / Johanna Kondelin / Tomas Tanskanen / Riku Katainen / Marta Grau / Heli Rauanheimo /
    Roosa-Maria Plaketti / Aurora Taira / Päivi Sulo / Tuomo Hartonen / Kashyap Dave / Bernhard Schmierer / Sandeep Botla / Maria Sokolova / Anna Vähärautio / Kornelia Gladysz / Halit Ongen / Emmanouil Dermitzakis / Jesper Bertram Bramsen / Torben Falck Ørntoft / Claus Lindbjerg Andersen / Ari Ristimäki / Anna Lepistö / Laura Renkonen-Sinisalo / Jukka-Pekka Mecklin / Jussi Taipale / Lauri A. Aaltonen

    Nature Communications, Vol 9, Iss 1, Pp 1-

    2018  Band 9

    Abstract: In this study the authors examine the allelic imbalance (AI) landscape of colorectal cancer, reporting loss of TP53 as a driver of AI. They use CRISPR-Cas9 screens to identify 79 genes (within AI regions) regulating cell growth and identify a network of ... ...

    Abstract In this study the authors examine the allelic imbalance (AI) landscape of colorectal cancer, reporting loss of TP53 as a driver of AI. They use CRISPR-Cas9 screens to identify 79 genes (within AI regions) regulating cell growth and identify a network of transcription factors that may contribute to colorectal tumorigenesis.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2018-09-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  9. Artikel ; Online: Contribution of allelic imbalance to colorectal cancer

    Kimmo Palin / Esa Pitkänen / Mikko Turunen / Biswajyoti Sahu / Päivi Pihlajamaa / Teemu Kivioja / Eevi Kaasinen / Niko Välimäki / Ulrika A. Hänninen / Tatiana Cajuso / Mervi Aavikko / Sari Tuupanen / Outi Kilpivaara / Linda van den Berg / Johanna Kondelin / Tomas Tanskanen / Riku Katainen / Marta Grau / Heli Rauanheimo /
    Roosa-Maria Plaketti / Aurora Taira / Päivi Sulo / Tuomo Hartonen / Kashyap Dave / Bernhard Schmierer / Sandeep Botla / Maria Sokolova / Anna Vähärautio / Kornelia Gladysz / Halit Ongen / Emmanouil Dermitzakis / Jesper Bertram Bramsen / Torben Falck Ørntoft / Claus Lindbjerg Andersen / Ari Ristimäki / Anna Lepistö / Laura Renkonen-Sinisalo / Jukka-Pekka Mecklin / Jussi Taipale / Lauri A. Aaltonen

    Nature Communications, Vol 9, Iss 1, Pp 1-

    2018  Band 9

    Abstract: In this study the authors examine the allelic imbalance (AI) landscape of colorectal cancer, reporting loss of TP53 as a driver of AI. They use CRISPR-Cas9 screens to identify 79 genes (within AI regions) regulating cell growth and identify a network of ... ...

    Abstract In this study the authors examine the allelic imbalance (AI) landscape of colorectal cancer, reporting loss of TP53 as a driver of AI. They use CRISPR-Cas9 screens to identify 79 genes (within AI regions) regulating cell growth and identify a network of transcription factors that may contribute to colorectal tumorigenesis.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2018-09-01T00:00:00Z
    Verlag Nature Publishing Group
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  10. Artikel: MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas

    Mäkinen, Netta / Eevi Kaasinen / Elina Virolainen / Heli J. Lehtonen / Jaana Tolvanen / Jari Sjöberg / Jian Yan / Jussi Taipale / Lauri A. Aaltonen / Martin Enge / Massimiliano Gentile / Mervi Aavikko / Miika Mehine / Minna Taipale / Pia Vahteristo / Riku Katainen / Taru A. Koski / Tom Böhling / Virpi Launonen /
    Yilong Li

    Science. 2011 Oct. 14, v. 334, no. 6053

    2011  

    Abstract: Uterine leiomyomas, or fibroids, are benign tumors that affect millions of women worldwide and that can cause considerable morbidity. To study the genetic basis of this tumor type, we examined 18 uterine leiomyomas derived from 17 different patients by ... ...

    Abstract Uterine leiomyomas, or fibroids, are benign tumors that affect millions of women worldwide and that can cause considerable morbidity. To study the genetic basis of this tumor type, we examined 18 uterine leiomyomas derived from 17 different patients by exome sequencing and identified tumor-specific mutations in the mediator complex subunit 12 (MED12) gene in 10. Through analysis of 207 additional tumors, we determined that MED12 is altered in 70% (159 of 225) of tumors from a total of 80 patients. The Mediator complex is a 26-subunit transcriptional regulator that bridges DNA regulatory sequences to the RNA polymerase II initiation complex. All mutations resided in exon 2, suggesting that aberrant function of this region of MED12 contributes to tumorigenesis.
    Schlagwörter carcinogenesis ; DNA ; DNA-directed RNA polymerase ; exons ; genes ; morbidity ; mutation ; neoplasms ; patients ; regulatory sequences ; sequence analysis ; transcription factors ; women
    Sprache Englisch
    Erscheinungsverlauf 2011-1014
    Umfang p. 252-255.
    Erscheinungsort American Association for the Advancement of Science
    Dokumenttyp Artikel
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.1208930
    Datenquelle NAL Katalog (AGRICOLA)

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