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Results: 19
Cells of the adult human heart
Monika Litviňuková, Carlos Talavera-López, Henrike Maatz, Daniel Reichart, Catherine L. Worth, Eric L. Lindberg, Masatoshi Kanda, Krzysztof Polanski, Matthias Heinig, Michael Lee, Emily R. Nadelmann, Kenny Roberts, Liz Tuck, Eirini S. Fasouli, Daniel M. DeLaughter, Barbara McDonough, Hiroko Wakimoto, Joshua M. Gorham, Sara Samari, Krishnaa T. Mahbubani, Kourosh Saeb-Parsy, Giannino Patone, Joseph J. Boyle, Hongbo Zhang, Hao Zhang, Anissa Viveiros, Gavin Y. Oudit, Omer Ali Bayraktar, J. G. Seidman, Christine E. Seidman, Michela Noseda, Norbert Hubner, Sarah A. Teichmann
Sep 24, 2021
Abstract: Cardiovascular disease is the leading cause of death worldwide. Advanced insights into disease mechanisms and therapeutic strategies require a deeper understanding of the molecular processes involved in the healthy...
Transcriptomic analysis of insecticide resistance in the lymphatic filariasis vector Culex quinquefasciatus
Walter Fabricio Silva Martins, Craig Stephen Wilding, Alison Taylor Isaacs, Emily Joy Rippon, Karine Megy, Martin James Donnelly
Aug 05, 2020
Abstract: Culex quinquefasciatus plays an important role in transmission of vector-borne diseases of public health importance, including lymphatic filariasis (LF), as well as many arboviral diseases. Currently, efforts to tackle...
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition
Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutiérrez-Enríquez, Alejandro Moles-Fernández, Orland Diez, Tu Nguyen-Dumont, Melissa C. Southey, John L. Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K. Schmidt, Muriel A. Adank, Irene L. Andrulis, Eric Hahnen, Christoph Engel, Fabienne Lesueur, Elodie Girard, Susan L. Neuhausen, Elad Ziv, Jamie Allen, Douglas F. Easton, Rodney J. Scott, Kylie L. Gorringe, Paul A. James, Ian G. Campbell
May 12, 2021
Abstract: Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor syndrome that includes breast cancer, but the contribution of heterozygous variants to...
Neonatal genetics of gene expression reveal potential origins of autoimmune and allergic disease risk
Qin Qin Huang, Howard H. F. Tang, Shu Mei Teo, Danny Mok, Scott C. Ritchie, Artika P. Nath, Marta Brozynska, Agus Salim, Andrew Bakshi, Barbara J. Holt, Chiea Chuen Khor, Peter D. Sly, Patrick G. Holt, Kathryn E. Holt, Michael Inouye
Jul 28, 2021
Abstract: Chronic immune-mediated diseases of adulthood often originate in early childhood. To investigate genetic associations between neonatal immunity and disease, we map expression quantitative trait loci (eQTLs) in resting...
Large genome-wide association study identifies three novel risk variants for restless legs syndrome
Maria Didriksen, Muhammad Sulaman Nawaz, Joseph Dowsett, Steven Bell, Christian Erikstrup, Ole B. Pedersen, Erik Sørensen, Poul J. Jennum, Kristoffer S. Burgdorf, Brendan Burchell, Adam S. Butterworth, Nicole Soranzo, David B. Rye, Lynn Marie Trotti, Prabhjyot Saini, Lilja Stefansdottir, Sigurdur H. Magnusson, Gudmar Thorleifsson, Thordur Sigmundsson, Albert P. Sigurdsson, Katja van den Hurk, Franke Quee, Michael W. T. Tanck, Willem H. Ouwehand, David J. Roberts, Eric J. Earley, Michael P. Busch, Alan E. Mast, Grier P. Page, John Danesh, Emanuele Di Angelantonio, Hreinn Stefansson, Henrik Ullum, Kari Stefansson
Nov 25, 2020
Genomic imprinting in mouse blastocysts is predominantly associated with H3K27me3
Laura Santini, Florian Halbritter, Fabian Titz-Teixeira, Toru Suzuki, Maki Asami, Xiaoyan Ma, Julia Ramesmayer, Andreas Lackner, Nick Warr, Florian Pauler, Simon Hippenmeyer, Ernest Laue, Matthias Farlik, Christoph Bock, Andreas Beyer, Anthony C. F. Perry, Martin Leeb
Jun 21, 2021
Abstract: In mammalian genomes, differentially methylated regions (DMRs) and histone marks including trimethylation of histone 3 lysine 27 (H3K27me3) at imprinted genes are asymmetrically inherited to control parentally-biased...
Neonatal genetics of gene expression reveal potential origins of autoimmune and allergic disease risk
Qin Qin Huang, Howard H. F. Tang, Shu Mei Teo, Danny Mok, Scott C. Ritchie, Artika P. Nath, Marta Brozynska, Agus Salim, Andrew Bakshi, Barbara J. Holt, Chiea Chuen Khor, Peter D. Sly, Patrick G. Holt, Kathryn E. Holt, Michael Inouye
Jul 28, 2020
Abstract: Chronic immune-mediated diseases of adulthood often originate in early childhood. To investigate genetic associations between neonatal immunity and disease, we map expression quantitative trait loci (eQTLs) in resting...
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
Luke W. Bonham, Natasha Z. R. Steele, Celeste M. Karch, Iris Broce, Ethan G. Geier, Natalie L. Wen, Parastoo Momeni, John Hardy, Zachary A. Miller, Maria Luisa Gorno-Tempini, Christopher P. Hess, Patrick Lewis, Bruce L. Miller, William W. Seeley, Claudia Manzoni, Rahul S. Desikan, Sergio E. Baranzini, Raffaele Ferrari, Jennifer S. Yokoyama, D. G. Hernandez, M. A. Nalls, J. D. Rohrer, A. Ramasamy, J. B. J. Kwok, C. Dobson-Stone, P. R. Schofield, G. M. Halliday, J. R. Hodges, O. Piguet, L. Bartley, E. Thompson, E. Haan, I. Hernández, A. Ruiz, M. Boada, B. Borroni, A. Padovani, C. Cruchaga, N. J. Cairns, L. Benussi, G. Binetti, R. Ghidoni, G. Forloni, D. Albani, D. Galimberti, C. Fenoglio, M. Serpente, E. Scarpini, J. Clarimón, A. Lleó, R. Blesa, M. Landqvist Waldö, K. Nilsson, C. Nilsson, I. R. A. Mackenzie, G. -Y. R. Hsiung, D. M. A. Mann, J. Grafman, C. M. Morris, J. Attems, T. D. Griffiths, I. G. McKeith, A. J. Thomas, P. Pietrini, E. D. Huey, E. M. Wassermann, A. Baborie, E. Jaros, M. C. Tierney, P. Pastor, C. Razquin, S. Ortega-Cubero, E. Alonso, R. Perneczky, J. Diehl-Schmid, P. Alexopoulos, A. Kurz, I. Rainero, E. Rubino, L. Pinessi, E. Rogaeva, P. St George-Hyslop, G. Rossi, F. Tagliavini, G. Giaccone, J. B. Rowe, J. C. M. Schlachetzki, J. Uphill, J. Collinge, S. Mead, A. Danek, V. M. Van Deerlin, M. Grossman, J. Q. Trojanowski, J. van der Zee, M. Cruts, C. Van Broeckhoven, S. F. Cappa, I. Leber, D. Hannequin, V. Golfier, M. Vercelletto, A. Brice, B. Nacmias, S. Sorbi, S. Bagnoli, I. Piaceri, J. E. Nielsen, L. E. Hjermind, M. Riemenschneider, M. Mayhaus, B. Ibach, G. Gasparoni, S. Pichler, W. Gu, M. N. Rossor, N. C. Fox, J. D. Warren, M. G. Spillantini, H. R. Morris, P. Rizzu, P. Heutink, J. S. Snowden, S. Rollinson, A. Richardson, A. Gerhard, A. C. Bruni, R. Maletta, F. Frangipane, C. Cupidi, L. Bernardi, M. Anfossi, M. Gallo, M. E. Conidi, N. Smirne, R. Rademakers, M. Baker, D. W. Dickson, N. R. Graff-Radford, R. C. Petersen, D. Knopman, K. A. Josephs, B. F. Boeve, J. E. Parisi, A. M. Karydas, H. Rosen, J. C. van Swieten, E. G. P. Dopper, H. Seelaar, Y. A. L. Pijnenburg, P. Scheltens, G. Logroscino, R. Capozzo, V. Novelli, A. A. Puca, M. Franceschi, A. Postiglione, G. Milan, P. Sorrentino, M. Kristiansen, H. -H. Chiang, C. Graff, F. Pasquier, A. Rollin, V. Deramecourt, T. Lebouvier, D. Kapogiannis, L. Ferrucci, S. Pickering-Brown, A. B. Singleton
Jul 25, 2020
Abstract: The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar...
Common and distinct transcriptional signatures of mammalian embryonic lethality
John E. Collins, Richard J. White, Nicole Staudt, Ian M. Sealy, Ian Packham, Neha Wali, Catherine Tudor, Cecilia Mazzeo, Angela Green, Emma Siragher, Edward Ryder, Jacqueline K. White, Irene Papatheodoru, Amy Tang, Anja Füllgrabe, Konstantinos Billis, Stefan H. Geyer, Wolfgang J. Weninger, Antonella Galli, Myriam Hemberger, Derek L. Stemple, Elizabeth Robertson, James C. Smith, Timothy Mohun, David J. Adams, Elisabeth M. Busch-Nentwich
Jun 25, 2020
Abstract: The Deciphering the Mechanisms of Developmental Disorders programme has analysed the morphological and molecular phenotypes of embryonic and perinatal lethal mouse mutant lines in order to investigate the causes of...
Analysis of Plasmodium vivax schizont transcriptomes from field isolates reveals heterogeneity of expression of genes involved in host-parasite interactions
Cysteine synthases CYSL-1 and CYSL-2 mediate C. elegans heritable adaptation to P. vranovensis infection
Nicholas O. Burton, Cristian Riccio, Alexandra Dallaire, Jonathan Price, Benjamin Jenkins, Albert Koulman, Eric A. Miska
Apr 08, 2021
Abstract: Parental exposure to pathogens can prime offspring immunity in diverse organisms. The mechanisms by which this heritable priming occurs are largely unknown. Here we report that the soil bacteria Pseudomonas vranovensis...
High-resolution transcriptional profiling of Anopheles gambiae spermatogenesis reveals mechanisms of sex chromosome regulation
Chrysanthi Taxiarchi, Nace Kranjc, Antonios Kriezis, Kyros Kyrou, Federica Bernardini, Steven Russell, Tony Nolan, Andrea Crisanti, Roberto Galizi
Oct 15, 2020
Abstract: Although of high priority for the development of genetic tools to control malaria-transmitting mosquitoes, only a few germline-specific regulatory regions have been characterised to date and the presence of global...
The Firre locus produces a trans -acting RNA molecule that functions in hematopoiesis
Jordan P. Lewandowski, James C. Lee, Taeyoung Hwang, Hongjae Sunwoo, Jill M. Goldstein, Abigail F. Groff, Nydia P. Chang, William Mallard, Adam Williams, Jorge Henao-Meija, Richard A. Flavell, Jeannie T. Lee, Chiara Gerhardinger, Amy J. Wagers, John L. Rinn
Nov 12, 2020
Abstract: RNA has been classically known to play central roles in biology, including maintaining telomeres, protein synthesis, and in sex chromosome compensation. While thousands of long noncoding RNAs (lncRNAs) have been...
In Utero Gene Therapy (IUGT) Using GLOBE Lentiviral Vector Phenotypically Corrects the Heterozygous Humanised Mouse Model and Its Progress Can Be Monitored Using MRI Techniques
Panicos Shangaris, Stavros P. Loukogeorgakis, Sindhu Subramaniam, Christina Flouri, Laurence H. Jackson, Wei Wang, Michael P. Blundell, Shanrun Liu, Simon Eaton, Nahla Bakhamis, Durrgah Latchumi Ramachandra, Panayiotis Maghsoudlou, Luca Urbani, Simon N. Waddington, Ayad Eddaoudi, Joy Archer, Michael N. Antoniou, Daniel J. Stuckey, Manfred Schmidt, Adrian J. Thrasher, Thomas M. Ryan, Paolo De Coppi, Anna L. David
Aug 11, 2020
Analysis of Plasmodium vivax schizont transcriptomes from field isolates reveals heterogeneity of expression of genes involved in host-parasite interactions
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease
Stephen Watt, Louella Vasquez, Klaudia Walter, Alice L. Mann, Kousik Kundu, Lu Chen, Ying Sims, Simone Ecker, Frances Burden, Samantha Farrow, Ben Farr, Valentina Iotchkova, Heather Elding, Daniel Mead, Manuel Tardaguila, Hannes Ponstingl, David Richardson, Avik Datta, Paul Flicek, Laura Clarke, Kate Downes, Tomi Pastinen, Peter Fraser, Mattia Frontini, Biola-Maria Javierre, Mikhail Spivakov, Nicole Soranzo
Apr 16, 2021
Cells of the adult human heart
Monika Litviňuková, Carlos Talavera-López, Henrike Maatz, Daniel Reichart, Catherine L. Worth, Eric L. Lindberg, Masatoshi Kanda, Krzysztof Polanski, Matthias Heinig, Michael Lee, Emily R. Nadelmann, Kenny Roberts, Liz Tuck, Eirini S. Fasouli, Daniel M. DeLaughter, Barbara McDonough, Hiroko Wakimoto, Joshua M. Gorham, Sara Samari, Krishnaa T. Mahbubani, Kourosh Saeb-Parsy, Giannino Patone, Joseph J. Boyle, Hongbo Zhang, Hao Zhang, Anissa Viveiros, Gavin Y. Oudit, Omer Ali Bayraktar, J. G. Seidman, Christine E. Seidman, Michela Noseda, Norbert Hubner, Sarah A. Teichmann
Dec 24, 2020
Abstract: Cardiovascular disease is the leading cause of death worldwide. Advanced insights into disease mechanisms and therapeutic strategies require a deeper understanding of the molecular processes involved in the healthy...
Reference Genes for Expression Studies in Human CD8 + Naïve and Effector Memory T Cells under Resting and Activating Conditions
Marco Geigges, Patrick M. Gubser, Gunhild Unterstab, Yannic Lecoultre, Renato Paro, Christoph Hess
Jun 10, 2021
Abstract: Reverse-transcription quantitative real-time polymerase chain reaction (RT-qPCR) is widely used for mRNA quantification. To accurately measure changing gene transcript levels under different experimental conditions...
The RNA landscape of the human placenta in health and disease
Sungsam Gong, Francesca Gaccioli, Justyna Dopierala, Ulla Sovio, Emma Cook, Pieter-Jan Volders, Lennart Martens, Paul D. W. Kirk, Sylvia Richardson, Gordon C. S. Smith, D. Stephen Charnock-Jones
May 11, 2021
Abstract: The placenta is the interface between mother and fetus and inadequate function contributes to short and long-term ill-health. The placenta is absent from most large-scale RNA-Seq datasets. We therefore analyze long and...