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JOURNAL ARTICLE
Richard S Smith, Marta Florio, Shyam K Akula, Jennifer E Neil, Yidi Wang, R Sean Hill, Melissa Goldman, Christopher D Mullally, Nora Reed, Luis Bello-Espinosa, Laura Flores-Sarnat, Fabiola Paoli Monteiro, Casella B Erasmo, Filippo Pinto E Vairo, Eva Morava, A James Barkovich, Joseph Gonzalez-Heydrich, Catherine A Brownstein, Steven A McCarroll, Christopher A Walsh
Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+ ) and potassium (K+ ) ions across the plasma membrane, a function catalyzed by the Na+ ,K+ -ATPase α-subunit. Here, we describe ATP1A3 variants encoding dysfunctional α3-subunits in children affected by polymicrogyria, a developmental malformation of the cerebral cortex characterized by abnormal folding and laminar organization. To gain cell-biological insights into the spatiotemporal dynamics of prenatal ATP1A3 expression, we built an ATP1A3 transcriptional atlas of fetal cortical development using mRNA in situ hybridization and transcriptomic profiling of ∼125,000 individual cells with single-cell RNA sequencing (Drop-seq) from 11 areas of the midgestational human neocortex...
June 22, 2021: Proceedings of the National Academy of Sciences of the United States of America
#22
JOURNAL ARTICLE
Weihong He, Charlotte S McCarroll, Katrin Nather, Kristopher Ford, Kenneth Mangion, Alexandra Riddell, Dylan O'Toole, Ali Zaeri, David Corcoran, David Carrick, Mathew M Y Lee, Margaret McEntegart, Andrew Davie, Richard Good, Mitchell M Lindsay, Hany Eteiba, Paul Rocchiccioli, Stuart Watkins, Stuart Hood, Aadil Shaukat, Lisa McArthur, Elspeth B Elliott, John McClure, Catherine Hawksby, Tamara Martin, Mark C Petrie, Keith G Oldroyd, Godfrey L Smith, Keith M Channon, Colin Berry, Stuart A Nicklin, Christopher M Loughrey
AIMS: Identifying novel mediators of lethal myocardial reperfusion injury that can be targeted during primary percutaneous coronary intervention (PPCI) is key to limiting the progression of patients with ST-elevated myocardial infarction (STEMI) to heart failure. Here we show through parallel clinical and integrative preclinical studies the significance of the protease cathepsin-L on cardiac function during reperfusion injury. METHODS AND RESULTS: We found that direct cardiac release of cathepsin-L in STEMI patients (n = 76) immediately post-PPCI leads to elevated serum cathepsin-L levels and that serum levels of cathepsin-L in the first 24 hour post-reperfusion are associated with reduced cardiac contractile function and increased infarct size...
June 16, 2021: Cardiovascular Research
#23
REVIEW
John Kokkinos, Anya Jensen, George Sharbeen, Joshua A McCarroll, David Goldstein, Koroush S Haghighi, Phoebe A Phillips
Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers and no significant improvement in patient survival has been seen in the past three decades. Treatment options are limited and selection of chemotherapy in the clinic is usually based on the performance status of a patient rather than the biology of their disease. In recent years, research has attempted to unlock a personalised treatment strategy by identifying actionable molecular targets in tumour cells or using preclinical models to predict the effectiveness of chemotherapy...
May 17, 2021: Cancers
#24
JOURNAL ARTICLE
Niamh Mullins, Andreas J Forstner, Kevin S O'Connell, Brandon Coombes, Jonathan R I Coleman, Zhen Qiao, Thomas D Als, Tim B Bigdeli, Sigrid Børte, Julien Bryois, Alexander W Charney, Ole Kristian Drange, Michael J Gandal, Saskia P Hagenaars, Masashi Ikeda, Nolan Kamitaki, Minsoo Kim, Kristi Krebs, Georgia Panagiotaropoulou, Brian M Schilder, Laura G Sloofman, Stacy Steinberg, Vassily Trubetskoy, Bendik S Winsvold, Hong-Hee Won, Liliya Abramova, Kristina Adorjan, Esben Agerbo, Mariam Al Eissa, Diego Albani, Ney Alliey-Rodriguez, Adebayo Anjorin, Verneri Antilla, Anastasia Antoniou, Swapnil Awasthi, Ji Hyun Baek, Marie Bækvad-Hansen, Nicholas Bass, Michael Bauer, Eva C Beins, Sarah E Bergen, Armin Birner, Carsten Bøcker Pedersen, Erlend Bøen, Marco P Boks, Rosa Bosch, Murielle Brum, Ben M Brumpton, Nathalie Brunkhorst-Kanaan, Monika Budde, Jonas Bybjerg-Grauholm, William Byerley, Murray Cairns, Miquel Casas, Pablo Cervantes, Toni-Kim Clarke, Cristiana Cruceanu, Alfredo Cuellar-Barboza, Julie Cunningham, David Curtis, Piotr M Czerski, Anders M Dale, Nina Dalkner, Friederike S David, Franziska Degenhardt, Srdjan Djurovic, Amanda L Dobbyn, Athanassios Douzenis, Torbjørn Elvsåshagen, Valentina Escott-Price, I Nicol Ferrier, Alessia Fiorentino, Tatiana M Foroud, Liz Forty, Josef Frank, Oleksandr Frei, Nelson B Freimer, Louise Frisén, Katrin Gade, Julie Garnham, Joel Gelernter, Marianne Giørtz Pedersen, Ian R Gizer, Scott D Gordon, Katherine Gordon-Smith, Tiffany A Greenwood, Jakob Grove, José Guzman-Parra, Kyooseob Ha, Magnus Haraldsson, Martin Hautzinger, Urs Heilbronner, Dennis Hellgren, Stefan Herms, Per Hoffmann, Peter A Holmans, Laura Huckins, Stéphane Jamain, Jessica S Johnson, Janos L Kalman, Yoichiro Kamatani, James L Kennedy, Sarah Kittel-Schneider, James A Knowles, Manolis Kogevinas, Maria Koromina, Thorsten M Kranz, Henry R Kranzler, Michiaki Kubo, Ralph Kupka, Steven A Kushner, Catharina Lavebratt, Jacob Lawrence, Markus Leber, Heon-Jeong Lee, Phil H Lee, Shawn E Levy, Catrin Lewis, Calwing Liao, Susanne Lucae, Martin Lundberg, Donald J MacIntyre, Sigurdur H Magnusson, Wolfgang Maier, Adam Maihofer, Dolores Malaspina, Eirini Maratou, Lina Martinsson, Manuel Mattheisen, Steven A McCarroll, Nathaniel W McGregor, Peter McGuffin, James D McKay, Helena Medeiros, Sarah E Medland, Vincent Millischer, Grant W Montgomery, Jennifer L Moran, Derek W Morris, Thomas W Mühleisen, Niamh O'Brien, Claire O'Donovan, Loes M Olde Loohuis, Lilijana Oruc, Sergi Papiol, Antonio F Pardiñas, Amy Perry, Andrea Pfennig, Evgenia Porichi, James B Potash, Digby Quested, Towfique Raj, Mark H Rapaport, J Raymond DePaulo, Eline J Regeer, John P Rice, Fabio Rivas, Margarita Rivera, Julian Roth, Panos Roussos, Douglas M Ruderfer, Cristina Sánchez-Mora, Eva C Schulte, Fanny Senner, Sally Sharp, Paul D Shilling, Engilbert Sigurdsson, Lea Sirignano, Claire Slaney, Olav B Smeland, Daniel J Smith, Janet L Sobell, Christine Søholm Hansen, Maria Soler Artigas, Anne T Spijker, Dan J Stein, John S Strauss, Beata Świątkowska, Chikashi Terao, Thorgeir E Thorgeirsson, Claudio Toma, Paul Tooney, Evangelia-Eirini Tsermpini, Marquis P Vawter, Helmut Vedder, James T R Walters, Stephanie H Witt, Simon Xi, Wei Xu, Jessica Mei Kay Yang, Allan H Young, Hannah Young, Peter P Zandi, Hang Zhou, Lea Zillich, Rolf Adolfsson, Ingrid Agartz, Martin Alda, Lars Alfredsson, Gulja Babadjanova, Lena Backlund, Bernhard T Baune, Frank Bellivier, Susanne Bengesser, Wade H Berrettini, Douglas H R Blackwood, Michael Boehnke, Anders D Børglum, Gerome Breen, Vaughan J Carr, Stanley Catts, Aiden Corvin, Nicholas Craddock, Udo Dannlowski, Dimitris Dikeos, Tõnu Esko, Bruno Etain, Panagiotis Ferentinos, Mark Frye, Janice M Fullerton, Micha Gawlik, Elliot S Gershon, Fernando S Goes, Melissa J Green, Maria Grigoroiu-Serbanescu, Joanna Hauser, Frans Henskens, Jan Hillert, Kyung Sue Hong, David M Hougaard, Christina M Hultman, Kristian Hveem, Nakao Iwata, Assen V Jablensky, Ian Jones, Lisa A Jones, René S Kahn, John R Kelsoe, George Kirov, Mikael Landén, Marion Leboyer, Cathryn M Lewis, Qingqin S Li, Jolanta Lissowska, Christine Lochner, Carmel Loughland, Nicholas G Martin, Carol A Mathews, Fermin Mayoral, Susan L McElroy, Andrew M McIntosh, Francis J McMahon, Ingrid Melle, Patricia Michie, Lili Milani, Philip B Mitchell, Gunnar Morken, Ole Mors, Preben Bo Mortensen, Bryan Mowry, Bertram Müller-Myhsok, Richard M Myers, Benjamin M Neale, Caroline M Nievergelt, Merete Nordentoft, Markus M Nöthen, Michael C O'Donovan, Ketil J Oedegaard, Tomas Olsson, Michael J Owen, Sara A Paciga, Chris Pantelis, Carlos Pato, Michele T Pato, George P Patrinos, Roy H Perlis, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Andreas Reif, Eva Z Reininghaus, Marta Ribasés, Marcella Rietschel, Stephan Ripke, Guy A Rouleau, Takeo Saito, Ulrich Schall, Martin Schalling, Peter R Schofield, Thomas G Schulze, Laura J Scott, Rodney J Scott, Alessandro Serretti, Cynthia Shannon Weickert, Jordan W Smoller, Hreinn Stefansson, Kari Stefansson, Eystein Stordal, Fabian Streit, Patrick F Sullivan, Gustavo Turecki, Arne E Vaaler, Eduard Vieta, John B Vincent, Irwin D Waldman, Thomas W Weickert, Thomas Werge, Naomi R Wray, John-Anker Zwart, Joanna M Biernacka, John I Nurnberger, Sven Cichon, Howard J Edenberg, Eli A Stahl, Andrew McQuillin, Arianna Di Florio, Roel A Ophoff, Ole A Andreassen
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics...
June 2021: Nature Genetics
#25
JOURNAL ARTICLE
George Sharbeen, Joshua A McCarroll, Anouschka Akerman, Chantal Kopecky, Janet Youkhana, John Kokkinos, Jeff Holst, Cyrille Boyer, Mert Erkan, David Goldstein, Paul Timpson, Thomas R Cox, Brooke A Pereira, Jessica L Chitty, Sigrid K Fey, Arafath K Najumudeen, Andrew D Campbell, Owen J Sansom, Rosa Mistica C Ignacio, Stephanie Naim, Jie Liu, Nelson Russia, Julia Lee, Angela Chou, Amber Johns, Anthony J Gill, Estrella Gonzales-Aloy, Val Gebski, Yi Fang Guan, Marina Pajic, Nigel Turner, Minoti V Apte, Thomas P Davis, Jennifer P Morton, Koroush S Haghighi, Jorjina Kasparian, Benjamin J McLean, Yordanos F Setargew, Phoebe A Phillips
Cancer-associated fibroblasts (CAF) are major contributors to pancreatic ductal adenocarcinoma (PDAC) progression through protumor signaling and the generation of fibrosis, the latter of which creates a physical barrier to drugs. CAF inhibition is thus an ideal component of any therapeutic approach for PDAC. SLC7A11 is a cystine transporter that has been identified as a potential therapeutic target in PDAC cells. However, no prior study has evaluated the role of SLC7A11 in PDAC tumor stroma and its prognostic significance...
July 1, 2021: Cancer Research
#26
Xiaoming Jia, Fernando S Goes, Adam E Locke, Duncan Palmer, Weiqing Wang, Sarah Cohen-Woods, Giulio Genovese, Anne U Jackson, Chen Jiang, Mark Kvale, Niamh Mullins, Hoang Nguyen, Mehdi Pirooznia, Margarita Rivera, Douglas M Ruderfer, Ling Shen, Khanh Thai, Matthew Zawistowski, Yongwen Zhuang, Gonçalo Abecasis, Huda Akil, Sarah Bergen, Margit Burmeister, Sinéad Chapman, Melissa DelaBastide, Anders Juréus, Hyun Min Kang, Pui-Yan Kwok, Jun Z Li, Shawn E Levy, Eric T Monson, Jennifer Moran, Janet Sobell, Stanley Watson, Virginia Willour, Sebastian Zöllner, Rolf Adolfsson, Douglas Blackwood, Michael Boehnke, Gerome Breen, Aiden Corvin, Nick Craddock, Arianna DiFlorio, Christina M Hultman, Mikael Landen, Cathryn Lewis, Steven A McCarroll, W Richard McCombie, Peter McGuffin, Andrew McIntosh, Andrew McQuillin, Derek Morris, Richard M Myers, Michael O'Donovan, Roel Ophoff, Marco Boks, Rene Kahn, Willem Ouwehand, Michael Owen, Carlos Pato, Michele Pato, Danielle Posthuma, James B Potash, Andreas Reif, Pamela Sklar, Jordan Smoller, Patrick F Sullivan, John Vincent, James Walters, Benjamin Neale, Shaun Purcell, Neil Risch, Catherine Schaefer, Eli A Stahl, Peter P Zandi, Laura J Scott
No abstract text is available yet for this article.
March 5, 2021: Molecular Psychiatry
#27
JOURNAL ARTICLE
Mathew J K Jones, Camille Gelot, Stephanie Munk, Amnon Koren, Yoshitaka Kawasoe, Kelly A George, Ruth E Santos, Jesper V Olsen, Steven A McCarroll, Mark G Frattini, Tatsuro S Takahashi, Prasad V Jallepalli
Eukaryotic genomes replicate via spatially and temporally regulated origin firing. Cyclin-dependent kinase (CDK) and Dbf4-dependent kinase (DDK) promote origin firing, whereas the S phase checkpoint limits firing to prevent nucleotide and RPA exhaustion. We used chemical genetics to interrogate human DDK with maximum precision, dissect its relationship with the S phase checkpoint, and identify DDK substrates. We show that DDK inhibition (DDKi) leads to graded suppression of origin firing and fork arrest. S phase checkpoint inhibition rescued origin firing in DDKi cells and DDK-depleted Xenopus egg extracts...
February 4, 2021: Molecular Cell
#28
Ronen E Mukamel, Robert E Handsaker, Maxwell A Sherman, Alison R Barton, Yiming Zheng, Steven A McCarroll, Po-Ru Loh
Hundreds of the proteins encoded in human genomes contain domains that vary in size or copy number due to variable numbers of tandem repeats (VNTRs) in protein-coding exons. VNTRs have eluded analysis by the molecular methods-SNP arrays and high-throughput sequencing-used in large-scale human genetic studies to date; thus, the relationships of VNTRs to most human phenotypes are unknown. We developed ways to estimate VNTR lengths from whole-exome sequencing data, identify the SNP haplotypes on which VNTR alleles reside, and use imputation to project these haplotypes into abundant SNP data...
January 19, 2021: bioRxiv
#29
JOURNAL ARTICLE
Xiaoming Jia, Fernando S Goes, Adam E Locke, Duncan Palmer, Weiqing Wang, Sarah Cohen-Woods, Giulio Genovese, Anne U Jackson, Chen Jiang, Mark Kvale, Niamh Mullins, Hoang Nguyen, Mehdi Pirooznia, Margarita Rivera, Douglas M Ruderfer, Ling Shen, Khanh Thai, Matthew Zawistowski, Yongwen Zhuang, Gonçalo Abecasis, Huda Akil, Sarah Bergen, Margit Burmeister, Sinead Champion, Melissa DelaBastide, Anders Juréus, Hyun Min Kang, Pui-Yan Kwok, Jun Z Li, Shawn E Levy, Eric T Monson, Jennifer Moran, Janet Sobell, Stanley Watson, Virginia Willour, Sebastian Zöllner, Rolf Adolfsson, Douglas Blackwood, Michael Boehnke, Gerome Breen, Aiden Corvin, Nick Craddock, Arianna DiFlorio, Christina M Hultman, Mikael Landen, Cathryn Lewis, Steven A McCarroll, W Richard McCombie, Peter McGuffin, Andrew McIntosh, Andrew McQuillin, Derek Morris, Richard M Myers, Michael O'Donovan, Roel Ophoff, Marco Boks, Rene Kahn, Willem Ouwehand, Michael Owen, Carlos Pato, Michele Pato, Danielle Posthuma, James B Potash, Andreas Reif, Pamela Sklar, Jordan Smoller, Patrick F Sullivan, John Vincent, James Walters, Benjamin Neale, Shaun Purcell, Neil Risch, Catherine Schaefer, Eli A Stahl, Peter P Zandi, Laura J Scott
Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation in BD is not well established. We examined the protein-coding (exonic) sequences of 3,987 unrelated individuals with BD and 5,322 controls of predominantly European ancestry across four cohorts from the Bipolar Sequencing Consortium (BSC). We assessed the burden of rare, protein-altering, single nucleotide variants classified as pathogenic or likely pathogenic (P-LP) both exome-wide and within several groups of genes with phenotypic or biologic plausibility in BD...
January 22, 2021: Molecular Psychiatry
#30
JOURNAL ARTICLE
John Kokkinos, George Sharbeen, Koroush S Haghighi, Rosa Mistica C Ignacio, Chantal Kopecky, Estrella Gonzales-Aloy, Janet Youkhana, Paul Timpson, Brooke A Pereira, Shona Ritchie, Elvis Pandzic, Cyrille Boyer, Thomas P Davis, Lisa M Butler, David Goldstein, Joshua A McCarroll, Phoebe A Phillips
The poor prognosis of pancreatic ductal adenocarcinoma (PDAC) is attributed to the highly fibrotic stroma and complex multi-cellular microenvironment that is difficult to fully recapitulate in pre-clinical models. To fast-track translation of therapies and to inform personalised medicine, we aimed to develop a whole-tissue ex vivo explant model that maintains viability, 3D multicellular architecture, and microenvironmental cues of human pancreatic tumours. Patient-derived surgically-resected PDAC tissue was cut into 1-2 mm explants and cultured on gelatin sponges for 12 days...
January 21, 2021: Scientific Reports
#31
JOURNAL ARTICLE
G Balakrishnan, S Vijayaragavan, B Somesh
Background Hypoplasia of thumb is the second common congenital difference of the thumb, next only to duplication. It may occur as an isolated hand difference or as a part of radial longitudinal deficiency. In approximately 60% of these children, the radius shows hypoplasia. The incidence of thumb hypoplasia is one in 100,000 live births. In 50% of these children, the other hand will also have similar deficiency, although variable in severity. Hypoplasia of thumb has been classified into five major categories, according to the increasing severity of hypoplasia...
December 2020: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
#32
Fenna M Krienen, Melissa Goldman, Qiangge Zhang, Ricardo C H Del Rosario, Marta Florio, Robert Machold, Arpiar Saunders, Kirsten Levandowski, Heather Zaniewski, Benjamin Schuman, Carolyn Wu, Alyssa Lutservitz, Christopher D Mullally, Nora Reed, Elizabeth Bien, Laura Bortolin, Marian Fernandez-Otero, Jessica D Lin, Alec Wysoker, James Nemesh, David Kulp, Monika Burns, Victor Tkachev, Richard Smith, Christopher A Walsh, Jordane Dimidschstein, Bernardo Rudy, Leslie S Kean, Sabina Berretta, Gord Fishell, Guoping Feng, Steven A McCarroll
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
December 2020: Nature
#33
JOURNAL ARTICLE
Carlos E Cardenas, Beth M Beadle, Adam S Garden, Heath D Skinner, Jinzhong Yang, Dong Joo Rhee, Rachel E McCarroll, Tucker J Netherton, Skylar S Gay, Lifei Zhang, Laurence E Court
PURPOSE: To develop a deep learning model that generates consistent, high-quality lymph node clinical target volumes (CTV) contours for head and neck cancer (HNC) patients, as an integral part of a fully automated radiation treatment planning workflow. METHODS AND MATERIALS: Computed tomography (CT) scans from 71 HNC patients were retrospectively collected and split into training (n = 51), cross-validation (n = 10), and test (n = 10) data sets. All had target volume delineations covering lymph node levels Ia through V (Ia-V), Ib through V (Ib-V), II through IV (II-IV), and retropharyngeal (RP) nodes, which were previously approved by a radiation oncologist specializing in HNC...
October 14, 2020: International Journal of Radiation Oncology, Biology, Physics
#34
COMPARATIVE STUDY
Fenna M Krienen, Melissa Goldman, Qiangge Zhang, Ricardo C H Del Rosario, Marta Florio, Robert Machold, Arpiar Saunders, Kirsten Levandowski, Heather Zaniewski, Benjamin Schuman, Carolyn Wu, Alyssa Lutservitz, Christopher D Mullally, Nora Reed, Elizabeth Bien, Laura Bortolin, Marian Fernandez-Otero, Jessica D Lin, Alec Wysoker, James Nemesh, David Kulp, Monika Burns, Victor Tkachev, Richard Smith, Christopher A Walsh, Jordane Dimidschstein, Bernardo Rudy, Leslie S Kean, Sabina Berretta, Gord Fishell, Guoping Feng, Steven A McCarroll
Primates and rodents, which descended from a common ancestor around 90 million years ago1 , exhibit profound differences in behaviour and cognitive capacity; the cellular basis for these differences is unknown. Here we use single-nucleus RNA sequencing to profile RNA expression in 188,776 individual interneurons across homologous brain regions from three primates (human, macaque and marmoset), a rodent (mouse) and a weasel (ferret). Homologous interneuron types-which were readily identified by their RNA-expression patterns-varied in abundance and RNA expression among ferrets, mice and primates, but varied less among primates...
October 2020: Nature
#35
JOURNAL ARTICLE
Chikashi Terao, Akari Suzuki, Yukihide Momozawa, Masato Akiyama, Kazuyoshi Ishigaki, Kazuhiko Yamamoto, Koichi Matsuda, Yoshinori Murakami, Steven A McCarroll, Michiaki Kubo, Po-Ru Loh, Yoichiro Kamatani
The extent to which the biology of oncogenesis and ageing are shaped by factors that distinguish human populations is unknown. Haematopoietic clones with acquired mutations become common with advancing age and can lead to blood cancers1-10 . Here we describe shared and population-specific patterns of genomic mutations and clonal selection in haematopoietic cells on the basis of 33,250 autosomal mosaic chromosomal alterations that we detected in 179,417 Japanese participants in the BioBank Japan cohort and compared with analogous data from the UK Biobank...
June 24, 2020: Nature
#36
Seyedeh M Zekavat, Sanni Ruotsalainen, Robert E Handsaker, Maris Alver, Jonathan Bloom, Timothy Poterba, Cotton Seed, Jason Ernst, Mark Chaffin, Jesse Engreitz, Gina M Peloso, Ani Manichaikul, Chaojie Yang, Kathleen A Ryan, Mao Fu, W Craig Johnson, Michael Tsai, Matthew Budoff, Ramachandran S Vasan, L Adrienne Cupples, Jerome I Rotter, Stephen S Rich, Wendy Post, Braxton D Mitchell, Adolfo Correa, Andres Metspalu, James G Wilson, Veikko Salomaa, Manolis Kellis, Mark J Daly, Benjamin M Neale, Steven McCarroll, Ida Surakka, Tonu Esko, Andrea Ganna, Samuli Ripatti, Sekar Kathiresan, Pradeep Natarajan
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
April 1, 2020: Nature Communications
#37
JOURNAL ARTICLE
Juanjiangmeng Du, Sean Simmons, Andreas Brunklaus, Xian Adiconis, Cynthia C Hession, Zhanyan Fu, Yinqing Li, Reut Shema, Rikke S Møller, Boaz Barak, Guoping Feng, Miriam Meisler, Stephan Sanders, Holger Lerche, Arthur J Campbell, Steven McCarroll, Joshua Z Levin, Dennis Lal
The four voltage-gated sodium channels SCN1/2/3/8A have been associated with heterogeneous types of developmental disorders, each presenting with disease specific temporal and cell type specific gene expression. Using single-cell RNA sequencing transcriptomic data from humans and mice, we observe that SCN1A is predominantly expressed in inhibitory neurons. In contrast, SCN2/3/8A are profoundly expressed in excitatory neurons with SCN2/3A starting prenatally, followed by SCN1/8A neonatally. In contrast to previous observations from low resolution RNA screens, we observe that all four genes are expressed in both excitatory and inhibitory neurons, however, exhibit differential expression strength...
December 28, 2019: European Journal of Paediatric Neurology: EJPN
#38
JOURNAL ARTICLE
Deborah J Thompson, Giulio Genovese, Jonatan Halvardson, Jacob C Ulirsch, Daniel J Wright, Chikashi Terao, Olafur B Davidsson, Felix R Day, Patrick Sulem, Yunxuan Jiang, Marcus Danielsson, Hanna Davies, Joe Dennis, Malcolm G Dunlop, Douglas F Easton, Victoria A Fisher, Florian Zink, Richard S Houlston, Martin Ingelsson, Siddhartha Kar, Nicola D Kerrison, Ben Kinnersley, Ragnar P Kristjansson, Philip J Law, Rong Li, Chey Loveday, Jonas Mattisson, Steven A McCarroll, Yoshinori Murakami, Anna Murray, Pawel Olszewski, Edyta Rychlicka-Buniowska, Robert A Scott, Unnur Thorsteinsdottir, Ian Tomlinson, Behrooz Torabi Moghadam, Clare Turnbull, Nicholas J Wareham, Daniel F Gudbjartsson, Yoichiro Kamatani, Eva R Hoffmann, Steve P Jackson, Kari Stefansson, Adam Auton, Ken K Ong, Mitchell J Machiela, Po-Ru Loh, Jan P Dumanski, Stephen J Chanock, Lars A Forsberg, John R B Perry
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5 , yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, we estimate that 20% of the male population represented in the UK Biobank study (n = 205,011) has detectable LOY. We identify 156 autosomal genetic determinants of LOY, which we replicate in 757,114 men of European and Japanese ancestry. These loci highlight genes that are involved in cell-cycle regulation and cancer susceptibility, as well as somatic drivers of tumour growth and targets of cancer therapy...
November 2019: Nature
#39
JOURNAL ARTICLE
Max Lam, Chia-Yen Chen, Zhiqiang Li, Alicia R Martin, Julien Bryois, Xixian Ma, Helena Gaspar, Masashi Ikeda, Beben Benyamin, Brielin C Brown, Ruize Liu, Wei Zhou, Lili Guan, Yoichiro Kamatani, Sung-Wan Kim, Michiaki Kubo, Agung A A A Kusumawardhani, Chih-Min Liu, Hong Ma, Sathish Periyasamy, Atsushi Takahashi, Zhida Xu, Hao Yu, Feng Zhu, Wei J Chen, Stephen Faraone, Stephen J Glatt, Lin He, Steven E Hyman, Hai-Gwo Hwu, Steven A McCarroll, Benjamin M Neale, Pamela Sklar, Dieter B Wildenauer, Xin Yu, Dai Zhang, Bryan J Mowry, Jimmy Lee, Peter Holmans, Shuhua Xu, Patrick F Sullivan, Stephan Ripke, Michael C O'Donovan, Mark J Daly, Shengying Qin, Pak Sham, Nakao Iwata, Kyung S Hong, Sibylle G Schwab, Weihua Yue, Ming Tsuang, Jianjun Liu, Xiancang Ma, René S Kahn, Yongyong Shi, Hailiang Huang
Schizophrenia is a debilitating psychiatric disorder with approximately 1% lifetime risk globally. Large-scale schizophrenia genetic studies have reported primarily on European ancestry samples, potentially missing important biological insights. Here, we report the largest study to date of East Asian participants (22,778 schizophrenia cases and 35,362 controls), identifying 21 genome-wide-significant associations in 19 genetic loci. Common genetic variants that confer risk for schizophrenia have highly similar effects between East Asian and European ancestries (genetic correlation = 0...
December 2019: Nature Genetics
#40
JOURNAL ARTICLE
Tim B Bigdeli, Giulio Genovese, Penelope Georgakopoulos, Jacquelyn L Meyers, Roseann E Peterson, Conrad O Iyegbe, Helena Medeiros, Jorge Valderrama, Eric D Achtyes, Roman Kotov, Eli A Stahl, Colony Abbott, Maria Helena Azevedo, Richard A Belliveau, Elizabeth Bevilacqua, Evelyn J Bromet, William Byerley, Celia Barreto Carvalho, Sinéad B Chapman, Lynn E DeLisi, Ashley L Dumont, Colm O'Dushlaine, Oleg V Evgrafov, Laura J Fochtmann, Diane Gage, James L Kennedy, Becky Kinkead, Antonio Macedo, Jennifer L Moran, Christopher P Morley, Mantosh J Dewan, James Nemesh, Diana O Perkins, Shaun M Purcell, Jeffrey J Rakofsky, Edward M Scolnick, Brooke M Sklar, Pamela Sklar, Jordan W Smoller, Patrick F Sullivan, Fabio Macciardi, Stephen R Marder, Ruben C Gur, Raquel E Gur, David L Braff, Humberto Nicolini, Michael A Escamilla, Marquis P Vawter, Janet L Sobell, Dolores Malaspina, Douglas S Lehrer, Peter F Buckley, Mark H Rapaport, James A Knowles, Ayman H Fanous, Michele T Pato, Steven A McCarroll, Carlos N Pato
Schizophrenia is a common, chronic and debilitating neuropsychiatric syndrome affecting tens of millions of individuals worldwide. While rare genetic variants play a role in the etiology of schizophrenia, most of the currently explained liability is within common variation, suggesting that variation predating the human diaspora out of Africa harbors a large fraction of the common variant attributable heritability. However, common variant association studies in schizophrenia have concentrated mainly on cohorts of European descent...
October 7, 2019: Molecular Psychiatry
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