68 Works
Additional file 3 of Chromosome-level assemblies from diverse clades reveal limited structural and gene content variation in the genome of Candida glabrata
Marina Marcet-Houben, María Alvarado, Ewa Ksiezopolska, Ester Saus, Piet W. J. de Groot & Toni Gabaldón
Additional file 3. Chromosome-level assemblies from diverse clades reveal limited structural and gene content variation in the genome of Candida glabrata.
Additional file 3 of Chromosome-level assemblies from diverse clades reveal limited structural and gene content variation in the genome of Candida glabrata
Marina Marcet-Houben, María Alvarado, Ewa Ksiezopolska, Ester Saus, Piet W. J. de Groot & Toni Gabaldón
Additional file 3. Chromosome-level assemblies from diverse clades reveal limited structural and gene content variation in the genome of Candida glabrata.
Additional file 10 of LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer
Donatella Delle Cave, Silvia Buonaiuto, Bruno Sainz, Marco Fantuz, Maria Mangini, Alessandro Carrer, Annalisa Di Domenico, Tea Teresa Iavazzo, Gennaro Andolfi, Carme Cortina, Marta Sevillano, Christopher Heeschen, Vincenza Colonna, Marco Corona, Antonio Cucciardi, Martina Di Guida, Eduard Batlle, Annachiara De Luca & Enza Lonardo
Additional file 10: Figure S10. Inhibition of transforming growth factor beta (TGF-β) signaling blocks LAMC2-induced metastasis. (a) Enrichment plots for pancreatic cancer, focal adhesion, hypoxia, MAPK signaling, glycolysis and gluconeogenesis pathways in EGFP+ versus EGFP- cells isolated by FACS from subcutaneous tumors. (b) Western blot analysis for pSMAD2 and SMAD2 in EGFP- versus EGFP+ PANC-1 and #253 cells. Parallel GAPDH immunoblotting was performed. (c) Flow cytometry quantification of EGFP and ALK5-TGFβR1 in EGFP- and EGFP+...
Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100
Simona Capponi, Nadja Stöffler, Manuel Irimia, Frederik M.A. Van Schaik, Mercedes M. Ondik, Martin L. Biniossek, Lisa Lehmann, Julia Mitschke, Marit W. Vermunt, Menno P. Creyghton, Ann M. Graybiel, Thomas Reinheckel, Oliver Schilling, Benjamin J. Blencowe, Jill R. Crittenden & H. Th. Marc Timmers
Neuronal microexons represent the most highly conserved class of alternative splicing events and their timed expression shapes neuronal biology, including neuronal commitment and differentiation. The six-nt microexon 34ʹ is included in the neuronal form of TAF1 mRNA, which encodes the largest subunit of the basal transcription factor TFIID. In this study, we investigate the tissue distribution of TAF1-34ʹ mRNA and protein and the mechanism responsible for its neuronal-specific splicing. Using isoform-specific RNA probes and antibodies,...
The molecular evolution of spermatogenesis across mammals.
Florent Murat, Noe Mbengue, Sofia Boeg Winge, Timo Trefzer, Evgeny Leushkin, Mari Sepp, Margarida Cardoso-Moreira, Julia Schmidt, Celine Schneider, Katharina Mößinger, Thoomke Brüning, Francesco Lamanna, Meritxell Riera Belles, Christian Conrad, Ivanela Kondova, Ronald Bontrop, Rüdiger Behr, Philipp Khaitovich, Svante Pääbo, Tomas Marques-Bonet, Frank Grützner, Kristian Almstrup, Mikkel Heide Schierup & Henrik Kaessmann
The testis produces gametes through spermatogenesis and evolves rapidly at both the morphological and molecular level in mammals1-6, probably owing to the evolutionary pressure on males to be reproductively successful7. However, the molecular evolution of individual spermatogenic cell types across mammals remains largely uncharacterized. Here we report evolutionary analyses of single-nucleus transcriptome data for testes from 11 species that cover the three main mammalian lineages (eutherians, marsupials and monotremes) and birds (the evolutionary outgroup), and...
Additional file 11 of Epigenome-wide analysis of T-cell large granular lymphocytic leukemia identifies BCL11B as a potential biomarker
Patricia Johansson, Teresa Laguna, Julio Ossowski, Vera Pancaldi, Martina Brauser, Ulrich Dührsen, Lara Keuneke, Ana Queiros, Julia Richter, José I. Martín-Subero, Reiner Siebert, Brigitte Schlegelberger, Ralf Küppers, Jan Dürig, Eva M. Murga Penas, Enrique Carillo-de Santa Pau & Anke K. Bergmann
Additional file 11: Material and Methods.
Additional file 11 of Epigenome-wide analysis of T-cell large granular lymphocytic leukemia identifies BCL11B as a potential biomarker
Patricia Johansson, Teresa Laguna, Julio Ossowski, Vera Pancaldi, Martina Brauser, Ulrich Dührsen, Lara Keuneke, Ana Queiros, Julia Richter, José I. Martín-Subero, Reiner Siebert, Brigitte Schlegelberger, Ralf Küppers, Jan Dürig, Eva M. Murga Penas, Enrique Carillo-de Santa Pau & Anke K. Bergmann
Additional file 11: Material and Methods.
Additional file 4 of LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer
Donatella Delle Cave, Silvia Buonaiuto, Bruno Sainz, Marco Fantuz, Maria Mangini, Alessandro Carrer, Annalisa Di Domenico, Tea Teresa Iavazzo, Gennaro Andolfi, Carme Cortina, Marta Sevillano, Christopher Heeschen, Vincenza Colonna, Marco Corona, Antonio Cucciardi, Martina Di Guida, Eduard Batlle, Annachiara De Luca & Enza Lonardo
Additional file 4: Figure S4. Knockdown of LAMC2 does not affect cell growth. (a) Western blot analysis of LAMC2 in sh empty and LAMC2 knockdown cells. Parallel β-ACTIN immunoblotting was performed. (b) qPCR analysis for LAMC2 and CD44 gene expression in sh empty and LAMC2 knockdown cells. Data are normalized to GAPDH and are presented as fold change in gene expression relative to sh empty. (c) Representative images of sh empty and LAMC2 knockdown cells...
Additional file 6 of LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer
Donatella Delle Cave, Silvia Buonaiuto, Bruno Sainz, Marco Fantuz, Maria Mangini, Alessandro Carrer, Annalisa Di Domenico, Tea Teresa Iavazzo, Gennaro Andolfi, Carme Cortina, Marta Sevillano, Christopher Heeschen, Vincenza Colonna, Marco Corona, Antonio Cucciardi, Martina Di Guida, Eduard Batlle, Annachiara De Luca & Enza Lonardo
Additional file 6: Figure S6. Knockdown of LAMC2 affects tumorigenicity. (a) Representative images from a gelatin degradation assay of sh empty and LAMC2 knockdown cells. Nuclei were stained with Hoechst 33342 (blue), green represents actin (Alexa Fluor™ 488 Phalloidin) and red illustrates gelatin (Rodhamine). The white dashed line circles indicate the areas of degradation. (b) Degradation potential of sh empty and LAMC2 knockdown cells. (c) qPCR analysis for EMT genes in sh empty and LAMC2...
sj-docx-1-isp-10.1177_00207640221135849 – Supplemental material for Religiousness and psychotic experiences among young adult college students in the United States
Hans Y Oh, Edward B Davis, Mallory Klaunig, Zui Narita, Ai Koyanagi & Nicole R Karcher
Supplemental material, sj-docx-1-isp-10.1177_00207640221135849 for Religiousness and psychotic experiences among young adult college students in the United States by Hans Y Oh, Edward B Davis, Mallory Klaunig, Zui Narita, Ai Koyanagi and Nicole R Karcher in International Journal of Social Psychiatry
sj-docx-1-isp-10.1177_00207640231157253 – Supplemental material for Health status and quality of life in comorbid physical multimorbidity and depression among adults aged ≽50 years from low- and middle-income countries
Mireia Felez-Nobrega & Ai Koyanagi
Supplemental material, sj-docx-1-isp-10.1177_00207640231157253 for Health status and quality of life in comorbid physical multimorbidity and depression among adults aged ≽50 years from low- and middle-income countries by Mireia Felez-Nobrega and Ai Koyanagi in International Journal of Social Psychiatry
Combined burden and functional impact tests for cancer driver discovery using DriverPower
Shimin Shuai, Federico Abascal, Samirkumar B Amin, Gary D Bader, Pratiti Bandopadhayay, Jonathan Barenboim, Rameen Beroukhim, Johanna Bertl, Keith A Boroevich, Søren Brunak, Peter J Campbell, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, Ken Chen, Jung Kyoon Choi, Jordi Deu-Pons, Priyanka Dhingra, Klev Diamanti, Lars Feuerbach, J Lynn Fink, Nuno A Fonseca, Joan Frigola, Carlo Gambacorti-Passerini, Dale W Garsed … & L van’t Veer
The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we describe DriverPower, a software package that uses mutational burden and functional impact evidence to identify driver mutations in coding and non-coding sites within cancer whole genomes. Using a total of 1373 genomic features...
Integrative pathway enrichment analysis of multivariate omics data
Marta Paczkowska, Jonathan Barenboim, Nardnisa Sintupisut, Natalie S Fox, Helen Zhu, Diala Abd-Rabbo, Miles W Mee, Paul C Boutros, Federico Abascal, Samirkumar B Amin, Gary D Bader, Rameen Beroukhim, Johanna Bertl, Keith A Boroevich, Søren Brunak, Peter J Campbell, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, Ken Chen, Jung Kyoon Choi, Jordi Deu-Pons, Priyanka Dhingra, Klev Diamanti, Lars Feuerbach … & L van’t Veer
Multi-omics datasets represent distinct aspects of the central dogma of molecular biology. Such high-dimensional molecular profiles pose challenges to data interpretation and hypothesis generation. ActivePathways is an integrative method that discovers significantly enriched pathways across multiple datasets using statistical data fusion, rationalizes contributing evidence and highlights associated genes. As part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumor types, we integrated...
Pathway and network analysis of more than 2500 whole cancer genomes
Matthew A Reyna, David Haan, Marta Paczkowska, Lieven PC Verbeke, Miguel Vazquez, Abdullah Kahraman, Sergio Pulido-Tamayo, Jonathan Barenboim, Lina Wadi, Priyanka Dhingra, Raunak Shrestha, Gad Getz, Michael S Lawrence, Jakob Skou Pedersen, Mark A Rubin, David A Wheeler, Søren Brunak, Jose MG Izarzugaza, Ekta Khurana, Kathleen Marchal, Christian von Mering, S Cenk Sahinalp, Alfonso Valencia, Federico Abascal, Samirkumar B Amin … & L van’t Veer
The catalog of cancer driver mutations in protein-coding genes has greatly expanded in the past decade. However, non-coding cancer driver mutations are less well-characterized and only a handful of recurrent non-coding mutations, most notably TERT promoter mutations, have been reported. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancer across 38 tumor types, we perform multi-faceted pathway and network analyses of non-coding...
Pathway and network analysis of more than 2500 whole cancer genomes
Matthew A Reyna, David Haan, Marta Paczkowska, Lieven PC Verbeke, Miguel Vazquez, Abdullah Kahraman, Sergio Pulido-Tamayo, Jonathan Barenboim, Lina Wadi, Priyanka Dhingra, Raunak Shrestha, Gad Getz, Michael S Lawrence, Jakob Skou Pedersen, Mark A Rubin, David A Wheeler, Søren Brunak, Jose MG Izarzugaza, Ekta Khurana, Kathleen Marchal, Christian von Mering, S Cenk Sahinalp, Alfonso Valencia, Federico Abascal, Samirkumar B Amin … & L van’t Veer
The catalog of cancer driver mutations in protein-coding genes has greatly expanded in the past decade. However, non-coding cancer driver mutations are less well-characterized and only a handful of recurrent non-coding mutations, most notably TERT promoter mutations, have been reported. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancer across 38 tumor types, we perform multi-faceted pathway and network analyses of non-coding...
Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100
Simona Capponi, Nadja Stöffler, Manuel Irimia, Frederik M.A. Van Schaik, Mercedes M. Ondik, Martin L. Biniossek, Lisa Lehmann, Julia Mitschke, Marit W. Vermunt, Menno P. Creyghton, Ann M. Graybiel, Thomas Reinheckel, Oliver Schilling, Benjamin J. Blencowe, Jill R. Crittenden & H. Th. Marc Timmers
Neuronal microexons represent the most highly conserved class of alternative splicing events and their timed expression shapes neuronal biology, including neuronal commitment and differentiation. The six-nt microexon 34ʹ is included in the neuronal form of TAF1 mRNA, which encodes the largest subunit of the basal transcription factor TFIID. In this study, we investigate the tissue distribution of TAF1-34ʹ mRNA and protein and the mechanism responsible for its neuronal-specific splicing. Using isoform-specific RNA probes and antibodies,...
Additional file 1 of Diagnostic accuracy of multiplex respiratory pathogen panels for influenza or respiratory syncytial virus infections: systematic review and meta-analysis
Sophie Jullien, Felicity Fitzgerald, Suzanne Keddie, Oliver Baerenbold, Quique Bassat, John Bradley, Jane Falconer, Colin Fink, Ruth Keogh, Heidi Hopkins & Marie Voice
Additional file 1: Annex S1. Search methodology. Annex S2. Databases. Annex S3. Statistical model. Annex S4. Literature search results. Additional tables and figures.
Additional file 7 of LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer
Donatella Delle Cave, Silvia Buonaiuto, Bruno Sainz, Marco Fantuz, Maria Mangini, Alessandro Carrer, Annalisa Di Domenico, Tea Teresa Iavazzo, Gennaro Andolfi, Carme Cortina, Marta Sevillano, Christopher Heeschen, Vincenza Colonna, Marco Corona, Antonio Cucciardi, Martina Di Guida, Eduard Batlle, Annachiara De Luca & Enza Lonardo
Additional file 7: Figure S7. Generation of LAMC2-EGFP knock-in human PDAC cells. (a) Flow cytometry for IRFP in PDAC cells 48 hours post-nucleofection. All cytometry gates were established based on isotype controls. (b) Flow cytometry for EGFP in PDAC cells 20 days post-nucleofection. All cytometry gates were established based on isotype controls. (c) PCR gDNA specific integration analysis. The positions of primers are indicated by arrows. (d) FACS profiles showing the expression of EGFP in...
Additional file 8 of LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer
Donatella Delle Cave, Silvia Buonaiuto, Bruno Sainz, Marco Fantuz, Maria Mangini, Alessandro Carrer, Annalisa Di Domenico, Tea Teresa Iavazzo, Gennaro Andolfi, Carme Cortina, Marta Sevillano, Christopher Heeschen, Vincenza Colonna, Marco Corona, Antonio Cucciardi, Martina Di Guida, Eduard Batlle, Annachiara De Luca & Enza Lonardo
Additional file 8: Figure S8. Characterization of human LAMC2-EGFP PDAC cells in vitro and in vivo. (a) Representative images of EGFP+ and EGFP-cells grown in Matrigel. (b) Organoid formation capacity of EGFP+ and EGFP-cells. (c) Quantification of organoid size of EGFP+ and EGFP-cells. (d) qPCR analysis for LAMC2, EMT, MMP2 and MMP10 gene expression in EGFP+ and EGFP-cells. Data are normalized to GAPDH and are presented as fold change in gene expression relative to the...
Divergent mutational processes distinguish hypoxic and normoxic tumours
Vinayak Bhandari, Constance H Li, Robert G Bristow, Paul C Boutros, Lauri A Aaltonen, Federico Abascal, Adam Abeshouse, Hiroyuki Aburatani, David J Adams, Nishant Agrawal, Keun Soo Ahn, Sung-Min Ahn, Hiroshi Aikata, Rehan Akbani, Kadir C Akdemir, Hikmat Al-Ahmadie, Sultan T Al-Sedairy, Fatima Al-Shahrour, Malik Alawi, Monique Albert, Kenneth Aldape, Ludmil B Alexandrov, Adrian Ally, Kathryn Alsop, Eva G Alvarez … & Christian von Mering
Many primary tumours have low levels of molecular oxygen (hypoxia), and hypoxic tumours respond poorly to therapy. Pan-cancer molecular hallmarks of tumour hypoxia remain poorly understood, with limited comprehension of its associations with specific mutational processes, non-coding driver genes and evolutionary features. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we quantify hypoxia in 1188 tumours spanning...
sj-docx-1-isp-10.1177_00207640221135817 – Supplemental material for Mental health differences between multiracial and monoracial college students in the United States: Emerging racial disparities
Hans Oh, Jinyu Du, Lee Smith & Ai Koyanagi
Supplemental material, sj-docx-1-isp-10.1177_00207640221135817 for Mental health differences between multiracial and monoracial college students in the United States: Emerging racial disparities by Hans Oh, Jinyu Du, Lee Smith and Ai Koyanagi in International Journal of Social Psychiatry
sj-docx-1-isp-10.1177_00207640221135817 – Supplemental material for Mental health differences between multiracial and monoracial college students in the United States: Emerging racial disparities
Hans Oh, Jinyu Du, Lee Smith & Ai Koyanagi
Supplemental material, sj-docx-1-isp-10.1177_00207640221135817 for Mental health differences between multiracial and monoracial college students in the United States: Emerging racial disparities by Hans Oh, Jinyu Du, Lee Smith and Ai Koyanagi in International Journal of Social Psychiatry
Combined burden and functional impact tests for cancer driver discovery using DriverPower
Shimin Shuai, Federico Abascal, Samirkumar B Amin, Gary D Bader, Pratiti Bandopadhayay, Jonathan Barenboim, Rameen Beroukhim, Johanna Bertl, Keith A Boroevich, Søren Brunak, Peter J Campbell, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, Ken Chen, Jung Kyoon Choi, Jordi Deu-Pons, Priyanka Dhingra, Klev Diamanti, Lars Feuerbach, J Lynn Fink, Nuno A Fonseca, Joan Frigola, Carlo Gambacorti-Passerini, Dale W Garsed … & L van’t Veer
The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we describe DriverPower, a software package that uses mutational burden and functional impact evidence to identify driver mutations in coding and non-coding sites within cancer whole genomes. Using a total of 1373 genomic features...
A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
Wei Jiao, Gurnit Atwal, Paz Polak, Rosa Karlic, Edwin Cuppen, Fatima Al-Shahrour, Peter J Bailey, Andrew V Biankin, Paul C Boutros, Peter J Campbell, David K Chang, Susanna L Cooke, Vikram Deshpande, Bishoy M Faltas, William C Faquin, Levi Garraway, Gad Getz, Sean M Grimmond, Syed Haider, Katherine A Hoadley, Vera B Kaiser, Mamoru Kato, Kirsten Kübler, Alexander J Lazar, Constance H Li … & Christian von Mering
In cancer, the primary tumour’s organ of origin and histopathology are the strongest determinants of its clinical behaviour, but in 3% of cases a patient presents with a metastatic tumour and no obvious primary. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, we train a deep learning classifier to predict cancer type based on patterns of somatic passenger mutations detected in whole genome sequencing (WGS) of 2606 tumours representing 24...
A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
Wei Jiao, Gurnit Atwal, Paz Polak, Rosa Karlic, Edwin Cuppen, Fatima Al-Shahrour, Peter J Bailey, Andrew V Biankin, Paul C Boutros, Peter J Campbell, David K Chang, Susanna L Cooke, Vikram Deshpande, Bishoy M Faltas, William C Faquin, Levi Garraway, Gad Getz, Sean M Grimmond, Syed Haider, Katherine A Hoadley, Vera B Kaiser, Mamoru Kato, Kirsten Kübler, Alexander J Lazar, Constance H Li … & Christian von Mering
In cancer, the primary tumour’s organ of origin and histopathology are the strongest determinants of its clinical behaviour, but in 3% of cases a patient presents with a metastatic tumour and no obvious primary. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, we train a deep learning classifier to predict cancer type based on patterns of somatic passenger mutations detected in whole genome sequencing (WGS) of 2606 tumours representing 24...
Affiliations
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Institució Catalana de Recerca i Estudis Avançats68
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Institute for Research in Biomedicine38
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Shanghai Jiao Tong University34
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University of Padua32
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Centre for Genomic Regulation21
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Pompeu Fabra University19
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Venetian Institute of Molecular Medicine15
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Alberto Sols Biomedical Research Institute15
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Instituto Ramón y Cajal de Investigación Sanitaria15
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National Research Council15