Follow

Submissions from 2019

PDF

The Global State of the Genetic Counseling Profession., MaryAnn Abacan, Lamia Alsubaie, Kristine Barlow-Stewart, Beppy Caanen, Christophe Cordier, Eliza Courtney, Emeline Davoine, Janice Edwards, Niby J Elackatt, Kate Gardiner, Yue Guan, Lian-Hua Huang, Charlotta Ingvoldstad Malmgren, Sahil Kejriwal, Hyon J Kim, Deborah Lambert, Paulina Araceli Lantigua-Cruz, Juliana M H Lee, Marianne Lodahl, Åshild Lunde, Shelley Macaulay, Ivan Macciocca, Sonia Margarit, Anna Middleton, Ramona Moldovan, Joanne Ngeow, Alexandra J Obregon-Tito, Kelly E Ormond, Milena Paneque, Karen Powell, Kunal Sanghavi, Diana Scotcher, Jenna Scott, Clara Serra Juhé, Shiri Shkedi-Rafid, Tina-Marié Wessels, Sook-Yee Yoon, and Catherine Wicklund

PDF

Annotation of gene product function from high-throughput studies using the Gene Ontology., Helen Attrill, Pascale Gaudet, Rachael P Huntley, Ruth C Lovering, Stacia R Engel, Sylvain Poux, Kimberly M Van Auken, George Georghiou, Marcus C Chibucos, Tanya Z Berardini, Valerie Wood, Harold J. Drabkin, Petra Fey, Penelope Garmiri, Midori A Harris, Tony Sawford, Leonore Reiser, Rebecca Tauber, Sabrina Toro, and Gene Ontology Consortium

PDF

Mouse Genome Database (MGD) 2019., Carol J Bult, Judith A. Blake, Cynthia Smith, James A. Kadin, Joel E Richardson, and Mouse Genome Database Group

Link

A CD4+ T cell population expanded in lupus blood provides B cell help through interleukin-10 and succinate., Simone Caielli, Diogo Troggian Veiga, Preetha Balasubramanian, Shruti Athale, Bojana Domic, Elise Murat, Romain Banchereau, Zhaohui Xu, Manjari Chandra, Cheng-Han Chung, Lynnette Walters, Jeanine Baisch, Tracey Wright, Marilynn Punaro, Lorien Nassi, Katie Stewart, Julie Fuller, Duygu Ucar, Hideki Ueno, Joseph Zhou, Jacques Banchereau, and Virginia Pascual

Link

p53 Is a Master Regulator of Proteostasis in SMARCB1-Deficient Malignant Rhabdoid Tumors., Alessandro Carugo, Rosalba Minelli, Luigi Sapio, Melinda Soeung, Federica Carbone, Frederick S Robinson, James Tepper, Ziheng Chen, Sara Lovisa, Maria Svelto, Samirkumar B Amin, Sanjana Srinivasan, Edoardo Del Poggetto, Sara Loponte, Francesca Puca, Prasenjit Dey, Gabriel G Malouf, Xiaoping Su, Liren Li, Dolores Lopez-Terrada, Dinesh Rakheja, Alexander J Lazar, George J Netto, Priya Rao, Alessandro Sgambato, Anirban Maitra, Durga N Tripathi, Cheryl L Walker, Jose A Karam, Timothy P Heffernan, Andrea Viale, Charles W M Roberts, Pavlos Msaouel, Nizar M Tannir, Giulio F Draetta, and Giannicola Genovese

PDF

Update on the human and mouse lipocalin (LCN) gene family, including evidence the mouse Mup cluster is result of an "evolutionary bloom"., Georgia Charkoftaki, Yewei Wang, Monica McAndrews, Elspeth A Bruford, David C Thompson, Vasilis Vasiliou, and Daniel W Nebert

Liriodendron genome sheds light on angiosperm phylogeny and species-pair differentiation., Jinhui Chen, Zhaodong Hao, Xuanmin Guang, Chenxi Zhao, Pengkai Wang, Liangjiao Xue, Qihui Zhu, Linfeng Yang, Yu Sheng, Yanwei Zhou, Haibin Xu, Hongqing Xie, Xiaofei Long, Jin Zhang, Zhangrong Wang, Mingming Shi, Ye Lu, Siqin Liu, Lanhua Guan, Qianhua Zhu, Liming Yang, Song Ge, Tielong Cheng, Thomas Laux, Qiang Gao, Ye Peng, Na Liu, Sihai Yang, and Jisen Shi

PDF

A Contraction Stress Model of Hypertrophic Cardiomyopathy due to Sarcomere Mutations., Rachel Cohn, Ketan Thakar, Andre Lowe, Feria A Ladha, Anthony M Pettinato, Robert Romano, Emily Meredith, Yu-Sheng Chen, Katherine Atamanuk, Bryan D Huey, and J Travis Hinson

PDF

The Gene Ontology Resource: 20 years and still GOing strong., Gene Ontology Consortium

PDF

PDX Finder: A portal for patient-derived tumor xenograft model discovery., Nathalie Conte, Jeremy C Mason, Csaba Halmagyi, Steven Neuhauser, Abayomi Mosaku, Galabina Yordanova, Aikaterini Chatzipli, Dale A. Begley, Debra M Krupke, Helen Parkinson, Terrence F Meehan, and Carol J Bult

Link

Photoreceptor degeneration in a new Cacna1f mutant mouse model., Xufeng Dai, Shiyi Pang, Jieping Wang, Bernard FitzMaurice, Jijing Pang, and Bo Chang

Link

Human Anti-HIV-1 gp120 Monoclonal Antibodies with Neutralizing Activity Cloned from Humanized Mice Infected with HIV-1., Melissa A Gawron, Mark Duval, Claudia Carbone, Smita Jaiswal, Aaron Wallace, Joseph C Martin, Ann Dauphin, Michael A Brehm, Dale L Greiner, Leonard D. Shultz, Jeremy Luban, and Lisa A Cavacini

Link

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm., Russell A Gould, Hamza Aziz, Courtney E Woods, Manuel Alejandro Seman-Senderos, Elizabeth Sparks, Christoph Preuss, Florian Wünnemann, Djahida Bedja, Cassandra R Moats, Sarah A McClymont, Rebecca Rose, Nara Sobreira, Hua Ling, Gretchen MacCarrick, Ajay Anand Kumar, Ilse Luyckx, Elyssa Cannaerts, Aline Verstraeten, Hanna M Björk, Ann-Cathrin Lehsau, Vinod Jaskula-Ranga, Henrik Lauridsen, Asad A Shah, Christopher L Bennett, Patrick T Ellinor, Honghuang Lin, Eric M Isselbacher, Christian Lacks Lino Cardenas, Jonathan T Butcher, G Chad Hughes, Mark E Lindsay, Luc Mertens, Anders Franco-Cereceda, Judith M A Verhagen, Marja Wessels, Salah A Mohamed, Per Eriksson, Seema Mital, Lut Van Laer, Bart L Loeys, Gregor Andelfinger, Andrew S McCallion, and Harry C Dietz

PDF

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution., Peter Hansen, Salaheddine Ali, Hannah Blau, Daniel Danis, Jochen Hecht, Uwe Kornak, Darío G Lupiáñez, Stefan Mundlos, Robin Steinhaus, and Peter N Robinson

PDF

Acarbose improves health and lifespan in aging HET3 mice., David E Harrison, Randy Strong, Silvestre Alavez, Clinton M Astle, John DiGiovanni, Elizabeth Fernandez, Kevin Flurkey, Michael Garratt, Jonathan A L Gelfond, Martin A Javors, Moshe Levi, Gordon J Lithgow, Francesca Macchiarini, James F Nelson, Stacey J Sukoff Rizzo, Thomas J Slaga, Timothy M Stearns, John Erby Wilkinson, and Richard A Miller

Testing the gene expression classification of the EMT spectrum., Dongya Jia, Jason T George, Satyendra C Tripathi, Deepali L Kundnani, Mingyang Lu, Samir M Hanash, José N Onuchic, Mohit Kumar Jolly, and Herbert Levine

PDF

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources., Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry, David Osumi-Sutherland, Valentina Cipriani, James P Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, Richard Palmer, Dylan Gratian, Hugh Dawkins, Michael Segal, Anna C Jansen, Ahmed Muaz, Willie H Chang, Jenna Bergerson, Stanley J F Laulederkind, Zafer Yüksel, Sergi Beltran, Alexandra F Freeman, Panagiotis I Sergouniotis, Daniel Durkin, Andrea L Storm, Marc Hanauer, Michael Brudno, Susan M. Bello, Murat Sincan, Kayli Rageth, Matthew T Wheeler, Renske Oegema, Halima Lourghi, Maria G Della Rocca, Rachel Thompson, Francisco Castellanos, James Priest, Charlotte Cunningham-Rundles, Ayushi Hegde, Ruth C Lovering, Catherine Hajek, Annie Olry, Luigi Notarangelo, Morgan Similuk, Xingmin A Zhang, David Gómez-Andrés, Hanns Lochmüller, Hélène Dollfus, Sergio Rosenzweig, Shruti Marwaha, Ana Rath, Kathleen Sullivan, Cynthia Smith, Joshua D Milner, Dorothée Leroux, Cornelius F Boerkoel, Amy Klion, Melody C Carter, Tudor Groza, Damian Smedley, Melissa A Haendel, Chris Mungall, and Peter N Robinson

PDF

Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function., Nathan Lawlor, Eladio J Marquez, Peter Orchard, Narisu Narisu, Muhammad Saad Shamim, Asa Thibodeau, Arushi Varshney, Romy Kursawe, Michael R Erdos, Matt Kanke, Huiya Gu, Evgenia Pak, Amalia Dutra, Sheikh Russell, Xingwang Li, Emaly Piecuch, Oscar Junhong Luo, Peter S Chines, Christian Fuchbserger, NIH Intramural Sequencing Center, Praveen Sethupathy, Aviva Presser Aiden, Yijun Ruan, Erez Lieberman Aiden, Francis S Collins, Duygu Ucar, Stephen C J Parker, and Michael L. Stitzel

Link

Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6, Qiaoli Li, Jianhe Huang, Anthony B Pinkerton, Jose Luis Millan, Bertrand D van Zelst, Michael A Levine, John P Sundberg, and Jouni Uitto

Link

The Gp1ba-Cre transgenic mouse: a new model to delineate platelet and leukocyte functions., Zoltan Nagy, Timo Vögtle, Mitchell J Geer, Jun Mori, Silke Heising, Giada Di Nunzio, Ralph Gareus, Alexander Tarakhovsky, Arthur Weiss, Benjamin G Neel, Guillaume E Desanti, Alexandra Mazharian, and Yotis A Senis

PDF

Knockdown of heterochromatin protein 1 binding protein 3 recapitulates phenotypic, cellular, and molecular features of aging., Sarah M Neuner, Shengyuan Ding, and Catherine C Kaczorowski

Link

Harnessing Genetic Complexity to Enhance Translatability of Alzheimer's Disease Mouse Models: A Path toward Precision Medicine., Sarah M Neuner, Sarah E Heuer, Matthew J Huentelman, Kristen M S O'Connell, and Catherine C Kaczorowski

Link

Antibiotic collateral sensitivity is contingent on the repeatability of evolution., Daniel Nichol, Joseph Rutter, Christopher Bryant, Andrea M Hujer, Sai Lek, Mark D Adams, Peter Jeavons, Alexander R A Anderson, Robert A Bonomo, and Jacob G Scott

PDF

Utility of the JAX Clinical Knowledgebase in capture and assessment of complex genomic cancer data., Sara E. Patterson, Cara M. Statz, Taofei Yin, and Susan Mockus

PDF

Towards large scale automated cage monitoring - Diurnal rhythm and impact of interventions on in-cage activity of C57BL/6J mice recorded 24/7 with a non-disrupting capacitive-based technique., Karin Pernold, F Iannello, Benjamin E. Low, M Rigamonti, G Rosati, F Scavizzi, J Wang, M Raspa, Michael V. Wiles, and B Ulfhake

Delivery of CRISPR-Cas9 into Mouse Zygotes by Electroporation., Wenning Qin and Haoyi Wang

Three things every nurse practitioner can do to integrate genetics into practice., E Kate Reed, Therese Ingram, and Emily A Edelman

Linked-read Sequencing Analysis Reveals Tumor-specific Genome Variation Landscapes in Neurofibromatosis Type 2 (NF2) Patients., Daniel S Roberts, Rahul Maurya, Yuka Takemon, Jeremie Vitte, Liang Gong, Juanjuan Zhao, Chee-Hong Wong, William Slattery, Kevin A Peng, Gregory Lekovic, Marc S Schwartz, Ketan Bulsara, Chew Yee Ngan, Marco Giovannini, and Chia-Lin Wei

PDF

CD11c+ Cells Are Gatekeepers for Lymphocyte Trafficking to Infiltrated Islets During Type 1 Diabetes., Adam M Sandor, Robin S Lindsay, Nathan Dyjack, Jennifer C Whitesell, Cydney Rios, Brenda J Bradley, Kathryn Haskins, David V. Serreze, Aron M Geurts, Yi-Guang Chen, Max A Seibold, Jordan Jacobelli, and Rachel S Friedman

PDF

An ontological foundation for ocular phenotypes and rare eye diseases., Panagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N Robinson, Hélène Dollfus, and ERN-EYE Ontology Study Group

PDF

Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitor, Bridgette Sisson, Jasmina Uvalic, Kevin Kelly, Pavalan Selvam, Andrew N Hesse, Guruprasad Ananda, Harshpreet Chandok, Daniel Bergeron, Lauren Holinka, and Honey V Reddi

PDF

The mouse Gene Expression Database (GXD): 2019 update., Constance M. Smith, Terry F. Hayamizu, Jacqueline H. Finger, Susan M. Bello, Ingeborg J. McCright, Jingxia Xu, Richard M. Baldarelli, Jonathan S Beal, Jeffrey Campbell, Lori E. Corbani, Pete J. Frost, Jill R Lewis, Sharon C Giannatto, Dave Miers, David R. Shaw, James A. Kadin, Joel E Richardson, Cynthia Smith, and Martin Ringwald

PDF

Genome assembly and gene expression in the American black bear provides new insights into the renal response to hibernation., Anuj Srivastava, Vishal Kumar Sarsani, Ian Fiddes, Susan Sheehan, Rita L Seger, Mary Barter, Selena Neptune-Bear, Charlotte Lindqvist, and Ron Korstanje

Link

Dynamics of semilattice networks with strongly connected dependency graph., Alan Veliz-Cuba and Reinhard Laubenbacher

Link

Osteopontin mediates glioblastoma-associated macrophage infiltration and is a potential therapeutic target., Jun Wei, Anantha Marisetty, Brett Schrand, Konrad Gabrusiewicz, Yuuri Hashimoto, Martina Ott, Zacharia Grami, Ling-Yuan Kong, Xiaoyang Ling, Hillary Caruso, Shouhao Zhou, Y Alan Wang, Gregory N Fuller, Jason Huse, Eli Gilboa, Nannan Kang, Xingxu Huang, Roel G W Verhaak, Shulin Li, and Amy B Heimberger

PDF

Inhibition of monocyte-like cell extravasation protects from neurodegeneration in DBA/2J glaucoma., Pete A. Williams, Catherine E. Braine, Krishnakumar Kizhatil, Nicole E Foxworth, Nicholas G Tolman, Jeffrey M. Harder, Rebecca A Scott, Gregory L Sousa, Alyssa Panitch, Gareth R Howell, and Simon W M John

PDF

Metformin intervention prevents cardiac dysfunction in a murine model of adult congenital heart disease., Julia C Wilmanns, Raghav Pandey, Olivia Hon, Anjana Chandran, Jan M Schilling, Elvira Forte, Qizhu Wu, Gael Cagnone, Preeti Bais, Vivek M. Philip, David Coleman, Heidi Kocalis, Stuart K Archer, James T Pearson, Mirana Ramialison, Joerg Heineke, Hemal H Patel, Nadia Rosenthal, Milena B Furtado, and Mauro W Costa

PDF

Enhancing the efficacy of glycolytic blockade in cancer cells via RAD51 inhibition., John J Wilson, Kin-Hoe Chow, Nathan J Labrie, Jane Branca, Thomas J. Sproule, Bryant R A Perkins, Elise E Wolf, Mauro W Costa, Grace Stafford, Christine Rosales, Kevin D Mills, Derry C. Roopenian, and Muneer G. Hasham

PDF

BiFET: sequencing Bias-free transcription factor Footprint Enrichment Test., Ahrim Youn, Eladio J Marquez, Nathan Lawlor, Michael L. Stitzel, and Duygu Ucar

PDF

CCNE1 amplification is associated with poor prognosis in patients with triple negative breast cancer., Zi-Ming Zhao, Susan E Yost, Katherine E Hutchinson, Sierra Min Li, Yate-Ching Yuan, Javad Noorbakhsh, Zheng Liu, Charles Warden, Radia M Johnson, Xiwei Wu, Jeffrey H Chuang, and Yuan Yuan