Submissions from 2024
Metabolomics profiling reveals distinct, sex-specific signatures in serum and brain metabolomes in mouse models of Alzheimer's disease., Ravi S Pandey, Mattias Arnold, Richa Batra, Jan Krumsiek, Kevin P Kotredes, Dylan Garceau, Harriet M. Jackson, Michael Sasner, Gareth R Howell, Rima Kaddurah-Daouk, and Gregory W. Carter
MetaboAnalyst 6.0: towards a unified platform for metabolomics data processing, analysis and interpretation., Zhiqiang Pang, Yao Lu, Guangyan Zhou, Fiona Hui, Lei Xu, Charles Viau, Aliya F Spigelman, Patrick E MacDonald, David S Wishart, Shuzhao Li, and Jianguo Xia
Phosphorus-independent role of FGF23 in erythropoiesis and iron homeostasis., Min Young Park, Rafiou Agoro, Stanislovas S Jankauskas, Carole Le Henaff, and Despina Sitara
Consensus and controversy in the management of paediatric and adult patients with ovarian immature teratoma: the Malignant Germ Cell International Consortium perspective., Farzana Pashankar, Matthew J Murray, Joanna J Gell, Nicola MacDonald, Jonathan Shamash, Deborah F Billmire, Lindsay Klosterkemper, Thomas Olson, Michelle S Hirsch, Michelle Lockley, Sara Stoneham, and A Lindsay Frazier
Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI., Matej Pekař, Otakar Jiravský, Jan Novák, Piotr Branny, Jakub Balušík, Daniel Danis, Jan Hečko, Marek Kantor, Robert Prosecky, Lubomir Blaha, and Radek Neuwirth
A brief chronicle of research on human pluripotent stem cells., Martin Pera
Improving the predictive power of mouse models., Martin Pera, Andrew S Greene, Lon Cardon, Gregory W. Carter, Elissa J Chesler, Gary Churchill, Vivek Kumar, Cathleen Lutz, Steven C. Munger, Stephen A Murray, Kristen M S O'Connell, Laura G Reinholdt, and Nadia Rosenthal
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency., Vi Pham, Lucas Tricoli, Xinying Hong, Parith Wongkittichote, Carlo Castruccio Castracani, Amaliris Guerra, Lars Schlotawa, Laura A Adang, Amanda Kuhs, Margaret M Cassidy, Owen Kane, Emily Tsai, Maximiliano Presa, Cathleen Lutz, Stefano B Rivella, and Rebecca C Ahrens-Nicklas
Enhlink infers distal and context-specific enhancer-promoter linkages., Olivier Poirion, Wulin Zuo, Catrina Spruce, Candice N Baker, Sandra Daigle, Ashley A Olson, Daniel A Skelly, Elissa J Chesler, Christopher L. Baker, and Brian S White
Enhanced isradipine sensitivity in vascular smooth muscle cells due to hypoxia-induced Ca, Charlene Priscilla Poore, Jialei Yang, Shunhui Wei, Chee Kong Fhu, Zoë Bichler, Juejin Wang, Tuck Wah Soong, and Ping Liao
Targeting mitochondrial dysfunction using methylene blue or mitoquinone to improve skeletal aging., Sher Bahadur Poudel, Dorra Frikha-Benayed, Ryan R Ruff, Gozde Yildirim, Manisha Dixit, Ron Korstanje, Laura Robinson, Richard A Miller, David E Harrison, John R Strong, Mitchell B Schaffler, and Shoshana Yakar
Development of primary osteoarthritis during aging in genetically diverse UM-HET3 mice., Sher Bahadur Poudel, Ryan R Ruff, Gozde Yildirim, Richard A Miller, David E Harrison, Randy Strong, Thorsten Kirsch, and Shoshana Yakar
Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model., Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer L Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C Ahrens-Nicklas, and Cathleen Lutz
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species., Tim E Putman, Kevin Schaper, Nicolas Matentzoglu, Vincent P Rubinetti, Faisal S Alquaddoomi, Corey Cox, J Harry Caufield, Glass Elsarboukh, Sarah Gehrke, Harshad Hegde, Justin T Reese, Ian Braun, Richard M Bruskiewich, Luca Cappelletti, Seth Carbon, Anita R Caron, Lauren E Chan, Christopher G Chute, Katherina G Cortes, Vinícius De Souza, Tommaso Fontana, Nomi L Harris, Emily L Hartley, Eric Hurwitz, Julius O B Jacobsen, Madan Krishnamurthy, Bryan J Laraway, James A McLaughlin, Julie A McMurry, Sierra A T Moxon, Kathleen R Mullen, Shawn T O'Neil, Kent A Shefchek, Ray Stefancsik, Sabrina Toro, Nicole A Vasilevsky, Ramona L Walls, Patricia L Whetzel, David Osumi-Sutherland, Damian Smedley, Peter N Robinson, Christopher J Mungall, Melissa A Haendel, and Monica C Munoz-Torres
Independent repeated mutations within the alphaviruses Ross River virus and Barmah Forest virus indicates convergent evolution and past positive selection in ancestral populations despite ongoing purifying selection., Alyssa T Pyke, Daniel J Wilson, Alice Michie, John S Mackenzie, Allison Imrie, Jane Cameron, Stephen L Doggett, John Haniotis, Lara J Herrero, Leon Caly, Stacey E Lynch, Peter T Mee, Eugene T Madzokere, Ana L Ramirez, Devina Paramitha, Jody Hobson-Peters, David W Smith, Richard Weir, Mitchell Sullivan, Julian Druce, Lorna Melville, Jennifer Robson, Robert Gibb, Andrew F van den Hurk, and Sebastian Duchene
A single-cell time-lapse of mouse prenatal development from gastrula to birth., Chengxiang Qiu, Beth K Martin, Ian C Welsh, Riza M Daza, Truc-Mai Le, Xingfan Huang, Eva K Nichols, Megan L Taylor, Olivia Fulton, Diana R O'Day, Anne Roshella Gomes, Saskia Ilcisin, Sanjay Srivatsan, Xinxian Deng, Christine M Disteche, William Stafford Noble, Nobuhiko Hamazaki, Cecilia B Moens, David Kimelman, Junyue Cao, Alexander F Schier, Malte Spielmann, Stephen A. Murray, Cole Trapnell, and Jay Shendure
Murine MHC-Deficient Nonobese Diabetic Mice Carrying Human HLA-DQ8 Develop Severe Myocarditis and Myositis in Response to Anti-PD-1 Immune Checkpoint Inhibitor Cancer Therapy., Jeremy Racine, John F Bachman, Ji-Gang Zhang, Adel Misherghi, Raheem Khadour, Sana Kaisar, Olivia Bedard, Catherine Jenkins, Annie Abbott, Elvira Forte, Peter Rainer, Nadia Rosenthal, Susanne Sattler, and David V. Serreze
In vivo activity of the second-generation proteasome inhibitor ixazomib against pediatric T-cell acute lymphoblastic leukemia xenografts., Joanna Randall, Kathryn Evans, Ben Watts, Hansen J Kosasih, Christopher M Smith, Eric J Earley, Stephen W Erickson, Emily L Jocoy, Carol J Bult, Beverly A Teicher, Charles E de Bock, Malcolm A Smith, and Richard B Lock
Distinct baseline immune characteristics associated with responses to conjugated and unconjugated pneumococcal polysaccharide vaccines in older adults., Sathyabaarathi Ravichandran, Fernando Erra-Diaz, Emin Onur Karakaslar, Radu Marches, Lisa Kenyon-Pesce, Robert J Rossi, Damien Chaussabel, Djamel Nehar-Belaid, David C LaFon, Virginia Pascual, Karolina Palucka, Silke Paust, Moon H Nahm, George A Kuchel, Jacques Banchereau, and Duygu Ucar
Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy., Elena R Rhymes, Rebecca L Simkin, Ji Qu, David Villarroel-Campos, Sunaina Surana, Yao Tong, Ryan Shapiro, Robert W. Burgess, Xiang-Lei Yang, Giampietro Schiavo, and James N Sleigh
A data browsing application for accessing gene and module-level blood transcriptome profiles of healthy pregnant women from high- and low-resource settings., Darawan Rinchai, Tobias Brummaier, Alexandra A Marr, Tanwir Habib, Mohammed Toufiq, Tomoshigue Kino, François Nosten, Souhaila Al Khodor, Annalisa Terranegra, Rose McGready, Basirudeen Syed Ahamed Kabeer, and Damien Chaussabel
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms., Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S Berg, Fiona Cunningham, Karen Eilbeck, Helen V Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh, Christa L Martin, Ellen M McDonagh, Daniel Perrett, Erin M Ramos, Peter N Robinson, Ana Rath, David W Sant, Zornitza Stark, Nicola Whiffin, Heidi L Rehm, and James S Ware
Computer vision segmentation model—deep learning for categorizing microplastic debris, Sarah-Jeanne Royer, Helen Wolter, Astrid E. Delorme, Laurent Lebreton, and Olivier Poirion
Discovery and validation of genes driving drug-intake and related behavioral traits in mice., Tyler A. Roy, Jason A. Bubier, Price E Dickson, Troy Wilcox, Juliet Ndukum, James Clark, S J Sukoff Rizzo, John C Crabbe, James M. Denegre, Karen L. Svenson, Robert E Braun, Vivek Kumar, Stephen A. Murray, Jacqueline K White, Vivek M. Philip, and Elissa J Chesler
The RSNA Abdominal Traumatic Injury CT (RATIC) Dataset., Jeffrey D Rudie, Hui-Ming Lin, Robyn L Ball, Sabeena Jalal, Luciano M Prevedello, Savvas Nicolaou, Brett S Marinelli, Adam E Flanders, Kirti Magudia, George Shih, Melissa A Davis, John Mongan, Peter D Chang, Ferco H Berger, Sebastiaan Hermans, Meng Law, Tyler Richards, Jan-Peter Grunz, Andreas Steven Kunz, Shobhit Mathur, Sandro Galea-Soler, Andrew D Chung, Saif Afat, Chin-Chi Kuo, Layal Aweidah, Ana Villanueva Campos, Arjuna Somasundaram, Felipe Antonio Sanchez Tijmes, Attaporn Jantarangkoon, Leonardo Kayat Bittencourt, Michael Brassil, Ayoub El Hajjami, Hakan Dogan, Muris Becircic, Agrahara G Bharatkumar, Eduardo Moreno Júdice de Mattos Farina, Errol Colak, Dataset Curator Group, Dataset Contributor Group, and Dataset Annotator Group
Advancing Genomic Cancer Medicine in Rural and Underserved States., Jens Rueter and Edison Liu
Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modeling., Mallory Ryan, Justin A McDonough, Michael E Ward, Mark R Cookson, William C Skarnes, and Florian T Merkle
Information-theory analysis of mouse string-pulling agrees with Fitts's Law: Increasing task difficulty engages multiple sensorimotor modalities in a dual oscillator behavior., Pardeepak S Sandhu, Behroo Mirza Agha, Samsoon Inayat, Surjeet Singh, Hardeep S Ryait, Majid H Mohajerani, and Ian Q Whishaw
Meeting report of the fifth annual workshop on Principles and Techniques for Improving Preclinical to Clinical Translation in Alzheimer's Disease Research., Michael Sasner, Kristen D. Onos, Paul R Territo, and Stacey J Sukoff Rizzo
In vivo validation of late-onset Alzheimer's disease genetic risk factors., Michael Sasner, Christoph Preuss, Ravi S Pandey, Asli Uyar, Dylan Garceau, Kevin P Kotredes, Harriet M. Jackson, Adrian L Oblak, Peter Bor-Chian Lin, Bridget Perkins, Disha Soni, Cindy Ingraham, Audrey Lee-Gosselin, Bruce T Lamb, Gareth R Howell, and Gregory W. Carter
Oncostatin M receptor-dependent signaling assessed by RNA sequencing in mouse hematopoietic stem cells., Logan S Schwartz, Ruth L. Saxl, Timothy M Stearns, Maria Telpoukhovskaia, and Jennifer J. Trowbridge
Transcriptional and functional consequences of Oncostatin M signaling on young Dnmt3a-mutant hematopoietic stem cells., Logan S Schwartz, Kira Young, Timothy M Stearns, Nathan Boyer, Kristina D Mujica, and Jennifer J. Trowbridge
Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data, Anando Sen, Victoria Hedley, Eva Degraeuwe, Steven Hirschfeld, Ronald Cornet, Ramona Walls, John Owen, Peter N Robinson, Edward G. Neilan, Thomas Liener, Giovanni Nisato, Neena Modi, Simon Woodworth, Avril Palmeri, Ricarda Gaentzsch, Melissa Walsh, Teresa Berkery, Joanne Lee, Laura Persijn, Kasey Baker, Kristina An Haack, Sonia Segovia Simon, Julius O. B. Jacobsen, Giorgio Reggiardo, Melissa A. Kirwin, Jessie Trueman, Claudia Pansieri, Donato Bonifazi, Sinéad Nally, Fedele Bonifazi, Rebecca Leary, and Volker Straub
Advancing Animal Models of Human Type 1 Diabetes., David V. Serreze, Jennifer R Dwyer, and Jeremy Racine
Closing the gap: using the ECHO model to improve access to hereditary colorectal cancer risk assessment and genetic counseling in the rural setting, Stephanie Sharp, Linda Steinmark, Emily A Edelman, Kate Reed, Kelly Barnes, and Susan Miesfeldt
Discovery of immunotherapy targets for pediatric solid and brain tumors by exon-level expression., Timothy I Shaw, Jessica Wagner, Liqing Tian, Elizabeth Wickman, Suresh Poudel, Jian Wang, Robin Paul, Selene C Koo, Meifen Lu, Heather Sheppard, Yiping Fan, Francis H O'Neill, Ching C Lau, Xin Zhou, Jinghui Zhang, and Stephen Gottschalk
A machine learning approach for quantifying age-related histological changes in the mouse kidney., Susan Sheehan, Seamus Mawe, Mandy Chen, Jenna Klug, Warren Ladiges, Ron Korstanje, and J Matthew Mahoney
Lessons learned from 20 years of preclinical testing in pediatric cancers., Malcolm A Smith, Peter J Houghton, Richard B Lock, John M Maris, Richard Gorlick, Raushan T Kurmasheva, Xiao-Nan Li, Beverly A Teicher, Jeffrey Chuang, Filemon S Dela Cruz, Michael A Dyer, Andrew L Kung, Michael W Lloyd, Yael P Mossé, Timothy M Stearns, Elizabeth A Stewart, Carol J Bult, and Stephen W Erickson
Genetic diversity promotes resilience in a mouse model of Alzheimer's disease., Neelakshi Soni, Lindsay A Hohsfield, Kristine M Tran, Shimako Kawauchi, Amber Walker, Dominic Javonillo, Jimmy Phan, Dina Matheos, Celia Da Cunha, Asli Uyar, Giedre Milinkeviciute, Angela Gomez-Arboledas, Katelynn Tran, Catherine C Kaczorowski, Marcelo A Wood, Andrea J Tenner, Frank M LaFerla, Gregory W. Carter, Ali Mortazavi, Vivek Swarup, Grant R MacGregor, and Kim N Green
A host-microbiota interactome reveals extensive transkingdom connectivity., Nicole D Sonnert, Connor E Rosen, Andrew R Ghazi, Eric A Franzosa, Brianna Duncan-Lowey, Jaime A González-Hernández, John D Huck, Yi Yang, Yile Dai, Tyler A Rice, Mytien T Nguyen, Deguang Song, Yiyun Cao, Anjelica L Martin, Agata A Bielecka, Suzanne Fischer, Changhui Guan, Julia Oh, Curtis Huttenhower, Aaron M Ring, and Noah W Palm
Effects of a Global Rab27a Null Mutation on Murine PVAT and Cardiovascular Function, Ashley Soucy, Christian Potts, Abigail Kaija, Anne Harrington, Marissa McGilvrey, George L. Sutphin, Ron Korstanje, Benjamin Tero, Jacob Seeker, Ilka Pinz, Calvin Vary, Larisa Ryzhova, and Lucy Liaw
The loss of βΙ spectrin alters synaptic size and composition in the, Michael C Stankewich, Luanne L. Peters, and Jon S Morrow
Nuclear factor kappa B-dependent persistence of, Taylor A Stepien, Larissa A Singletary, Fermin E Guerra, Joyce E Karlinsey, Stephen J Libby, Sarah L Jaslow, Margaret R Gaggioli, Kyle D Gibbs, Dennis C Ko, Michael A Brehm, Dale L Greiner, Leonard D. Shultz, and Ferric C Fang
Human-augmented large language model-driven selection of glutathione peroxidase 4 as a candidate blood transcriptional biomarker for circulating erythroid cells., Bishesh Subba, Mohammed Toufiq, Fuadur Omi, Marina Yurieva, Taushif Khan, Darawan Rinchai, Karolina Palucka, and Damien Chaussabel
RNA expression of 6 genes from metastatic mucosal gastric cancer serves as the global prognostic marker for gastric cancer with functional validation., Yun-Suhk Suh, Jieun Lee, Joshy George, Donghyeok Seol, Kyoungyun Jeong, Seung-Young Oh, Chanmi Bang, Yukyung Jun, Seong-Ho Kong, Hyuk-Joon Lee, Jong-Il Kim, Woo Ho Kim, Han-Kwang Yang, and Charles Lee
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice., Jeremy M Sullivan, Anna M Bagnell, Jonathan Alevy, Elvia Mena Avila, Ljubica Mihaljević, Pamela C Saavedra-Rivera, Lingling Kong, Jennifer S Huh, Brett A McCray, William H Aisenberg, Aamir R Zuberi, Laurent Bogdanik, Cathleen Lutz, Zhaozhu Qiu, Katharina A Quinlan, Peter C Searson, and Charlotte J Sumner
Current Protocols: Alopecia Areata Mouse Models for Drug Efficacy and Mechanism Studies., John P Sundberg, Eddy H C Wang, and Kevin J McElwee
SenNet recommendations for detecting senescent cells in different tissues., Vidyani Suryadevara, Adam D Hudgins, Adarsh Rajesh, Alberto Pappalardo, Alla Karpova, Amit K Dey, Ann Hertzel, Anthony Agudelo, Azucena Rocha, Bikem Soygur, Birgit Schilling, Chase M Carver, Cristina Aguayo-Mazzucato, Darren J Baker, David A Bernlohr, Diana Jurk, Dilyana B Mangarova, Ellen M Quardokus, Elizabeth Ann L Enninga, Elizabeth L Schmidt, Feng Chen, Francesca E Duncan, Francesco Cambuli, Gagandeep Kaur, George A Kuchel, Gung Lee, Heike E Daldrup-Link, Helene Martini, Hemali Phatnani, Iman M Al-Naggar, Irfan Rahman, Jia Nie, João F Passos, Jonathan C Silverstein, Judith Campisi, Julia Wang, Kanako Iwasaki, Karina Barbosa, Kay Metis, Kerem Nernekli, Laura J Niedernhofer, Li Ding, Lichao Wang, Lisa C Adams, Liu Ruiyang, Madison L Doolittle, Marcos G Teneche, Marissa J Schafer, Ming Xu, Mohammadjavad Hajipour, Mozhgan Boroumand, Nathan Basisty, Nicholas Sloan, Nikolai Slavov, Olena Kuksenko, Paul Robson, Paul T Gomez, Periklis Vasilikos, Peter D Adams, Priscila Carapeto, Quan Zhu, Ramalakshmi Ramasamy, Rolando Perez-Lorenzo, Rong Fan, Runze Dong, Ruth R Montgomery, Sadiya Shaikh, Sanja Vickovic, Shanshan Yin, Shoukai Kang, Sonja Suvakov, Sundeep Khosla, Vesna D Garovic, Vilas Menon, Yanxin Xu, Yizhe Song, Yousin Suh, Zhixun Dou, and Nicola Neretti
Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D., Abby Tadenev, Courtney L Hatton, and Robert W. Burgess
IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy., Georgette Tanner, Rhiannon Barrow, Shoaib Ajaib, Muna Al-Jabri, Nazia Ahmed, Steven Pollock, Martina Finetti, Nora Rippaus, Alexander F Bruns, Khaja Syed, James A Poulter, Laura Matthews, Thomas Hughes, Erica Wilson, Colin Johnson, Frederick S Varn, Anke Brüning-Richardson, Catherine Hogg, Alastair Droop, Arief Gusnanto, Matthew A Care, Luisa Cutillo, David R Westhead, Susan C Short, Michael D Jenkinson, Andrew Brodbelt, Aruna Chakrabarty, Azzam Ismail, Roel G W Verhaak, and Lucy F Stead
E.PathDash, pathway activation analysis of publicly available pathogen gene expression data., Lily Taub, Thomas H Hampton, Sharanya Sarkar, Georgia Doing, Samuel L Neff, Carson E Finger, Kiyoshi Ferreira Fukutani, and Bruce A Stanton
Improving laboratory animal genetic reporting: LAG-R guidelines., Lydia Teboul, James Amos-Landgraf, Fernando J Benavides, Marie-Christine Birling, Steve D M Brown, Elizabeth Bryda, Rosie Bunton-Stasyshyn, Hsian-Jean Chin, Martina Crispo, Fabien Delerue, Michael Dobbie, Craig L Franklin, Ernst-Martin Fuchtbauer, Xiang Gao, Christelle Golzio, Rebecca Haffner, Yann Hérault, Martin Hrabe de Angelis, Kevin C Kent Lloyd, Terry R Magnuson, Lluis Montoliu, Stephen A. Murray, Ki-Hoan Nam, Lauryl M J Nutter, Eric Pailhoux, Fernando Pardo Manuel de Villena, Kevin A Peterson, Laura G Reinholdt, Radislav Sedlacek, Je Kyung Seong, Toshihiko Shiroishi, Cynthia Smith, Toru Takeo, Louise Tinsley, Jean-Luc Vilotte, Søren Warming, Sara Wells, C Bruce Whitelaw, Atsushi Yoshiki, Asian Mouse Mutagenesis Resource Association, CELPHEDIA infrastructure, INFRAFRONTIER consortium, International Mammalian Genome Society, International Mouse Phenotyping Consortium, International Society for Transgenic Technologies, Mutant Mouse Resource and Research Centers, Phenomics Australia, RRRC-Rat Resource and Research Center, and Guillaume Pavlovic
New directions for Alzheimer's disease research from the Jackson Laboratory Center for Alzheimer's and Dementia Research 2022 workshop., Maria Telpoukhovskaia, Thomas J Murdy, Olivia J Marola, Kevin Charland, Michael MacLean, Tain Luquez, Alexandra M Lish, Sarah Neuner, Amy R Dunn, Kristen D. Onos, Jesse Wiley, Derek Archer, Matthew J Huentelman, Matthias Arnold, Vilas Menon, Alison Goate, Linda J Van Eldik, Paul R Territo, Gareth R Howell, Gregory W. Carter, Kristen M S O'Connell, Catherine Kaczorowski, and the 2022 JAX CADR Workshop
Updates to the Alliance of Genome Resources central infrastructure., The Alliance of Genome Resources Consortium
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods., The Critical Assessment of Genome Interpretation Consortium
Transcriptomic data support phylogenetic congruence and reveal genomic changes associated with the repeated evolution of annualism in aplocheiloid killifishes (Cyprinodontiformes)., Andrew W Thompson, Amanda C Black, Yu Huang, Qiong Shi, Andrew I Furness, Ingo Braasch, Federico G Hoffmann, and Guillermo Ortí
Genomic Reference Resource for African Cattle: Genome Sequences and High-Density Array Variants., Abdulfatai Tijjani, Sumaya Kambal, Endashaw Terefe, Regina Njeru, Moses Ogugo, Gideon Ndambuki, Ayao Missohou, Amadou Traore, Bashir Salim, Chukwunonso Ezeasor, Claire D'andre H, Emmanuel T Obishakin, Boubacar Diallo, Essodina Talaki, Issaka Y Abdoukarim, Oyekanmi Nash, Richard Osei-Amponsah, Simeone Ravaorimanana, Youssouf Issa, Tsadkan Zegeye, Christopher Mukasa, Christian Tiambo, James G D Prendergast, Stephen J Kemp, Jianlin Han, Karen Marshall, and Olivier Hanotte
Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI)., Sabrina Toro, Anna V Anagnostopoulos, Susan M. Bello, Kai Blumberg, Rhiannon Cameron, Leigh Carmody, Alexander D Diehl, Damion M Dooley, William D Duncan, Petra Fey, Pascale Gaudet, Nomi L Harris, Marcin P Joachimiak, Leila Kiani, Tiago Lubiana, Monica C Munoz-Torres, Shawn O'Neil, David Osumi-Sutherland, Aleix Puig-Barbe, Justin T Reese, Leonore Reiser, Sofia Mc Robb, Troy Ruemping, James Seager, Eric Sid, Ray Stefancsik, Magalie Weber, Valerie Wood, Melissa A Haendel, and Christopher J Mungall
Alterations in Adipose Tissue Distribution, Cell Morphology, and Function Mark Primary Insulin Hypersecretion in Youth With Obesity., Domenico Tricò, Martina Chiriacò, Jessica Nouws, Alla Vash-Margita, Romy Kursawe, Elena Tarabra, Alfonso Galderisi, Andrea Natali, Cosimo Giannini, Marc Hellerstein, Ele Ferrannini, and Sonia Caprio
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases., Clara D M van Karnebeek, Anne O'Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J M Jans, Timo Lassmann, Mary Catherine V Letinturier, Stephen B Montgomery, Peter N Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, and Bekim Sadikovic
Genetic drivers of age-related changes in urinary magnesium excretion., Wouter H van Megen, Jeroen H F de Baaij, Gary Churchill, Olivier Devuyst, Joost G J Hoenderop, and Ron Korstanje
Mitochondrial DNA release and sensing in innate immune responses., Jordyn J VanPortfliet, Cole Chute, Yuanjiu Lei, Timothy E Shutt, and A Phillip West
Loss of STING impairs lactogenic differentiation., Ramiah R Vickers, Garhett L Wyatt, Lilia Sanchez, Jordyn J VanPortfliet, A Phillip West, and Weston W Porter
Activity-dependent compartmentalization of dendritic mitochondria morphology through local regulation of fusion-fission balance in neurons in vivo., Daniel M Virga, Stevie Hamilton, Bertha Osei, Abigail Morgan, Parker Kneis, Emiliano Zamponi, Natalie J Park, Victoria L Hewitt, David Zhang, Kevin C Gonzalez, Fiona M Russell, D Grahame Hardie, Julien Prudent, Erik B Bloss, Attila Losonczy, Franck Polleux, and Tommy L Lewis
Intermittent clearance of p21-highly-expressing cells extends lifespan and confers sustained benefits to health and physical function., Binsheng Wang, Lichao Wang, Nathan S Gasek, Chia-Ling Kuo, Jia Nie, Taewan Kim, Pengyi Yan, Junyu Zhu, Blake L Torrance, Yueying Zhou, Lisa C Flores, Colton Allen, Allison M Andrade, Chun Guo, Rachel L Cohn, Evan R Jellison, Jenna M Bartley, George A Kuchel, Sheng Li, Tamar Pirtskhalava, Tamar Tchkonia, Sumit Yadav, Laura Haynes, James L Kirkland, Yuji Ikeno, and Ming Xu
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases., Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M Molster, Lucia Monaco, Carmencita D Padilla, Anne R Pariser, Peter N Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, and Flaminia Macchia
Computational immune synapse analysis reveals T-cell interactions in distinct tumor microenvironments., Victor G Wang, Zichao Liu, Jan Martinek, Ali Foroughi Pour, Jie Zhou, Hannah Boruchov, Kelly Ray, Karolina Palucka, and Jeffrey Chuang
Impaired axon initial segment structure and function in a model of, Wanqi Wang, Damian J Williams, Jia Jie Teoh, Divyalakshmi Soundararajan, Aamir Zuberi, Cathleen Lutz, Wayne N Frankel, and Christopher D Makinson
Anti-cytomegalovirus antibody levels stratify human immune profiles across the lifespan., Makiko Watanabe, Lisa Davidson, Patricia Smith, Peter F Castellucio, Mladen Jergovic, Jennifer L Uhrlaub, Megan J Smithey, Lori E Fantry, Brett Dechambre, Rachel C Wilson, Kenneth C Knox, Jie Ren, Raymond P Stowe, George M. Weinstock, Homer Twigg, and Janko Ž Nikolich
IL3-Driven T Cell-Basophil Crosstalk Enhances Antitumor Immunity., Jian Wei, Colleen L Mayberry, Xiaoting Lv, Fangyan Hu, Taushif Khan, Natalie A Logan, John J Wilson, John D Sears, Damien Chaussabel, and Chih-Hao Chang
Transcriptome analysis reveals organ-specific effects of 2-deoxyglucose treatment in healthy mice., Ann E Wells, John J Wilson, Sarah E Heuer, John D Sears, Jian Wei, Raghav Pandey, Mauro W Costa, Catherine Kaczorowski, Derry C. Roopenian, Chih-Hao Chang, and Gregory W. Carter
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome., Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta M Girisha, Anju Shukla, Stephanie L Bielas, and Ashleigh E Schaffer
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations., Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K L I van Gassen, Jacques C Giltay, Renske Oegema, Richard H van Jaarsveld, Rafiullah Rafiullah, Gudrun A Rappold, Rachel Rabin, John G Pappas, Marsha M Wheeler, Michael J Bamshad, Yao-Chang Tsan, Matthew B Johnson, Catherine E Keegan, Anshika Srivastava, and Stephanie L Bielas
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects., Elizabeth A Werren, Guillermo Rodriguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J Patil, Minal V Kekatpure, Alexandra Afenjar, Leila Qebibo, Lydie Burglen, Hoda Tomoum, Florence Demurger, Christele Duborg, Shahyan Siddiqui, Yao-Chang Tsan, Uzma Abdullah, Zafar Ali, Saadia Maryam Saadi, Shahid Mahmood Baig, Henry Houlden, Reza Maroofian, Quasar Saleem Padiath, Stephanie L Bielas, and Anju Shukla
A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis, Brian S White, Xing Yi Woo, Soner Koc, Todd B Sheridan, Steven Neuhauser, Shidan Wang, Yvonne A. Evrard, Li Chen, Ali Foroughi Pour, John D. Landua, R Jay Mashl, Sherri R. Davis, Bingliang Fang, Maria Gabriela Rosa, Kurt W. Evans, Matthew H. Bailey, Yeqing Chen, Min Xiao, Jill C Rubinstein, Brian J Sanderson, Michael W Lloyd, Sergii Domanskyi, Lacey E. Dobrolecki, Maihi Fujita, Junya Fujimoto, Guanghua Xiao, Ryan C. Fields, Jacqueline L. Mudd, Xiaowei Xu, Melinda G. Hollingshead, Shahanawaz Jiwani, Saul Acevedo, PDXNet Consortium, Brandi N. Davis-Dusenbery, Peter N Robinson, Jeffrey A. Moscow, James H. Doroshow, Nicholas Mitsiades, Salma Kaochar, Chong-xian Pan, Luis G. Caravajal-Carmona, Alana L. Welm, Bryan E. Welm, Ramaswamy Govindan, Shunqiang Li, Michael A. Davies, Jack A. Roth, Funda Meric-Bernstam, Yang Xie, Meenhard Herlyn, Li Ding, Michael T. Lewis, Carol J Bult, Dennis A. Dean II, and Jeffrey Chuang
Contributions of mouse genetic strain background to age-related phenotypes in physically active HET3 mice., Jake W Willows, Zahra Alshahal, Naeemah M Story, Michele J Alves, Pablo Vidal, Hallie Harris, Rochelle Rodrigo, Kristin I Stanford, Juan Peng, Peter C. Reifsnyder, David E Harrison, W David Arnold, and Kristy L Townsend
Synthetic BZLF1-targeted transcriptional activator for efficient lytic induction therapy against EBV-associated epithelial cancers., Man Wu, Pok Man Hau, Linxian Li, Chi Man Tsang, Yike Yang, Aziz Taghbalout, Grace Tin-Yun Chung, Shin Yee Hui, Wing Chung Tang, Nathaniel L. Jillette, Jacqueline Jufen Zhu, Horace Hok Yeung Lee, Ee Ling Kong, Melissa Sue Ann Chan, Jason Ying Kuen Chan, Brigette Buig Yue Ma, Mei-Ru Chen, Charles Lee, Ka Fai To, Albert Cheng, and Kwok-Wai Lo
Adducin Regulates Sarcomere Disassembly During Cardiomyocyte Mitosis., Feng Xiao, Ngoc Uyen Nhi Nguyen, Ping Wang, Shujuan Li, Ching-Cheng Hsu, Suwannee Thet, Wataru Kimura, Xiang Luo, Nicholas T Lam, Ivan Menendez-Montes, Waleed M Elhelaly, Alisson Campos Cardoso, Ana Helena Macedo Pereira, Rohit Singh, Sakthivel Sadayappan, Mohammed Kanchwala, Chao Xing, Feria A Ladha, J Travis Hinson, Roger J Hajjar, Joseph A Hill, and Hesham A Sadek
Association of Neonatal and Maternal Nasal Microbiome Among Neonates in the Intensive Care Unit., Shaoming Xiao, Wei Zhou, Ryan Caldwell, Slade Decker, Julia Oh, and Aaron M Milstone
Multicenter integrated analysis of noncoding CRISPRi screens., David Yao, Josh Tycko, Jin Woo Oh, Lexi R Bounds, Sager J Gosai, Lazaros Lataniotis, Ava Mackay-Smith, Benjamin R Doughty, Idan Gabdank, Henri Schmidt, Tania Guerrero-Altamirano, Keith Siklenka, Katherine Guo, Alexander D White, Ingrid Youngworth, Kalina Andreeva, Xingjie Ren, Alejandro Barrera, Yunhai Luo, Galip Gürkan Yardımcı, Ryan Tewhey, Anshul Kundaje, William J Greenleaf, Pardis C Sabeti, Christina Leslie, Yuri Pritykin, Jill E Moore, Michael A Beer, Charles A Gersbach, Timothy E Reddy, Yin Shen, Jesse M Engreitz, Michael C Bassik, and Steven K Reilly
Mucosal-associated invariant T cells in cancer: dual roles, complex interactions and therapeutic potential., Mesut Yigit, Omer Faruk Basoglu, and Derya Unutmaz
Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation., Feyza Yilmaz, Charikleia Karageorgiou, Kwondo Kim, Petar Pajic, Kendra Scheer, Human Genome Structural Variation Consortium, Christine R Beck, Ann-Marie Torregrossa, Charles Lee, Omer Gokcumen, Peter A Audano, Olanrewaju Austine-Orimoloye, Christine R Beck, Evan E Eichler, Pille Hallast, William T Harvey, Alex R Hastie, Kendra Hoekzema, Sarah Hunt, Jan O Korbel, Jennifer Kordosky, Charles Lee, Alexandra P Lewis, Tobias Marschall, Katherine M Munson, Andy Pang, and Feyza Yilmaz
A cochlear progenitor pool influences patterning of the mammalian sensory epithelium via MYBL2., Caryl A Young, Emily Burt, and Vidhya Munnamalai
Variation in mesenchymal KITL/SCF and IGF1 expression in middle age underlies steady-state hematopoietic stem cell aging., Kira Young, Maria Telpoukhovskaia, Johanna Hofmann, Jayna J Mistry, Konstantinos D Kokkaliaris, and Jennifer J. Trowbridge
Engraftment of adult hematopoietic stem and progenitor cells in a novel model of humanized mice., Chun I. Yu, Richard S. Maser, Florentina Marches, Jacques Banchereau, and Karolina Palucka
Protocol to construct humanized mice with adult CD34, Chun I. Yu, Richard S. Maser, Florentina Marches, Jacques Banchereau, and Karolina Palucka
Active Molecular Network Discovery Links Lifestyle Variables to Breast Cancer in the Long Island Breast Cancer Study Project., Miao Yu, Qian Li, Georgia Dolios, Peijun Tu, Susan Teitelbaum, Jia Chen, and Lauren Petrick
Metabolic fitness of IgA(+) plasma cells in the gut requires DOCK8, Biyan Zhang, Shuting Chen, Xiangyun Yin, Caleb D McBride, Jake A Gertie, Marina Yurieva, Agata A Bielecka, Brian Hoffmann, J Travis Hinson, Jessica D S Grassmann, Lan Xu, Emily R Siniscalco, Arielle Soldatenko, Laura Hoyt, Julie Joseph, Elizabeth B Norton, Gowthaman Uthaman, Noah W Palm, Elise Liu, Stephanie C Eisenbarth, and Adam Williams
Transcription factor AP-2 gamma affects porcine early embryo development by regulating epigenetic modification., Daoyu Zhang, Di Wu, Sheng Zhang, Meng Zhang, Yongfeng Zhou, Xinglan An, Qi Li, and Ziyi Li
Schizophrenia-Like Deficits and Impaired Glutamate/Gamma-aminobutyric acid Homeostasis in Zfp804a Conditional Knockout Mice., Qiao-Xia Zhang, Shan-Shan Wu, Peng-Jie Wang, Rui Zhang, Robert K Valenzuela, Shan-Shan Shang, Ting Wan, and Jie Ma
Quantifying interpretation reproducibility in Vision Transformer models with TAVAC., Yue Zhao, Dylan Agyemang, Yang Liu, J Matthew Mahoney, and Sheng Li
Per- and polyfluoroalkyl substances (PFAS) and cancer: Detection methodologies, epidemiological insights, potential carcinogenic mechanisms, and future perspectives., Jie Zheng, Sheng Liu, Junjie Yang, Shujian Zheng, and Boshi Sun
Longitudinal profiling of the microbiome at four body sites reveals core stability and individualized dynamics during health and disease., Xin Zhou, Xiaotao Shen, Jethro Johnson, Daniel Spakowicz, Melissa Agnello, Wenyu Zhou, Monica Avina, Alexander Honkala, Faye Chleilat, Shirley Jingyi Chen, Kexin Cha, Shana Leopold, Chenchen Zhu, Lei Chen, Lin Lyu, Daniel Hornburg, Si Wu, Xinyue Zhang, Chao Jiang, Liuyiqi Jiang, Lihua Jiang, Ruiqi Jian, Andrew W Brooks, Meng Wang, Kévin Contrepois, Peng Gao, Sophia Miryam Schüssler-Fiorenza Rose, Thi Dong Binh Tran, Hoan Nguyen, Alessandra Celli, Bo-Young Hong, Eddy J Bautista, Yair Dorsett, Paula B Kavathas, Yanjiao Zhou, Erica Sodergren Weinstock, George M. Weinstock, and Michael P Snyder
TRPM2 enhances ischemic excitotoxicity by associating with PKCγ., Pengyu Zong, Jianlin Feng, Nicholas Legere, Yunfeng Li, Zhichao Yue, Cindy X Li, Yasuo Mori, Barbara Miller, Bing Hao, and Lixia Yue
Submissions from 2023
Lipophilic analogues of D-cysteine prevent and reverse physical dependence to fentanyl in male rats., James N Bates, Paulina M Getsy, Gregory A Coffee, Santhosh M Baby, Peter M MacFarlane, Yee-Hsee Hsieh, Zackery T Knauss, Jason A. Bubier, Devin Mueller, and Stephen J Lewis
Levetiracetam modulates brain metabolic networks and transcriptomic signatures in the 5XFAD mouse model of Alzheimer's disease., Charles P Burton, Evgeny J Chumin, Alyssa Y Collins, Scott A Persohn, Kristen D. Onos, Ravi S Pandey, Sara K Quinney, and Paul R Territo
Hematopoietic Stem Cells and Metabolic Deterioration in Alström Syndrome, a Rare Genetic Model of the Metabolic Syndrome., Francesca Dassie, Mattia Albiero, Silvia Bettini, Roberta Cappellari, Gabriella Milan, Stefano Ciciliot, Juergen K. Naggert, Angelo Avogaro, Roberto Vettor, Pietro Maffei, and Gian Paolo Fadini
Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall., William T Harvey, Peter Ebert, Jana Ebler, Peter A Audano, Katherine M Munson, Kendra Hoekzema, David Porubsky, Christine R Beck, Tobias Marschall, Kiran Garimella, and Evan E Eichler
3D bioengineered neural tissue generated from patient-derived iPSCs mimics time-dependent phenotypes and transcriptional features of Alzheimer's disease., Selene Lomoio, Ravi S Pandey, Nicolas Rouleau, Beatrice Menicacci, WonHee Kim, William L Cantley, Philip G Haydon, David A Bennett, Tracy L Young-Pearse, Gregory W. Carter, David L Kaplan, and Giuseppina Tesco