Submissions from 2025
Marmosets as model systems for the study of Alzheimer's disease and related dementias: Substantiation of physiological tau 3R and 4R isoform expression and phosphorylation., Hasi Huhe, Sarah M Shapley, Duc M Duong, Fang Wu, Seung-Kwon Ha, Sang-Ho Choi, Julia Kofler, Yongshan Mou, Thais Rafael Guimaraes, Amantha Thathiah, Caroline M Watson, Lauren K H Schaeffer, Gregory W. Carter, Nicholas T Seyfried, Afonso C Silva, and Stacey J Sukoff Rizzo
Interindividual Genetic Differences Drive Discordance Between Serum Calcidiol and Calcitriol Concentrations in Females., Elizabeth K Hutchins, Changran Niu, Jing Xue, Debin Wan, Carolina V Campos, Molly Warren, Megan M Knuth, Michael B Whalen, Venkata S Voruganti, Rafiou Agoro, James C Fleet, Bruce D Hammock, and Folami Ideraabdullah
Oxygen Sensing in Osteocytes: From Physiology to Age-related Osteoporosis., Kathryn Janeczko and Rafiou Agoro
Structural polymorphism and diversity of human segmental duplications., Hyeonsoo Jeong, Philip C Dishuck, DongAhn Yoo, William T Harvey, Katherine M Munson, Alexandra P Lewis, Jennifer Kordosky, Gage H Garcia, Human Genome Structural Variation Consortium (HGSVC), Feyza Yilmaz, Pille Hallast, Charles Lee, Tomi Pastinen, and Evan E Eichler
Ischemic Conditioning Promotes Transneuronal Survival and Stroke Recovery via CD36-Mediated Efferocytosis., Hyunwoo Ju, Il-Doo Kim, Ina Pavlova, Shang Mu, Keun Woo Park, Joseph Minkler, Ahmed Madkoor, Wei Wang, Xiaoman Wang, Zhuhao Wu, Jiwon Yang, Maria Febbraio, John W Cave, and Sunghee Cho
A Survey Study of Roadblocks in Translational Science., Fasiha Kanwal, Christopher I Amos, Katherine H Sippel, Claudia Neuhauser, Ariel Harrison, Mary E Dickinson, Charles Minard, and Bettina M Beech
Clonal dynamics and somatic evolution of haematopoiesis in mouse., Chiraag D Kapadia, Nicholas Williams, Kevin J Dawson, Caroline Watson, Matthew J Yousefzadeh, Duy Le, Kudzai Nyamondo, Sreeya Kodavali, Alex Cagan, Sarah Waldvogel, Xiaoyan Zhang, Josephine De La Fuente, Daniel Leongamornlert, Emily Mitchell, Marcus A Florez, Krzysztof Sosnowski, Rogelio Aguilar, Alejandra Martell, Anna Guzman, David E Harrison, Laura J Niedernhofer, Katherine Y King, Peter J Campbell, Jamie Blundell, Margaret A Goodell, and Jyoti Nangalia
Modifications in media composition and antioxidant support influences in vitro produced bovine blastocyst inner cell mass and trophectoderm numbers., Jessica A Keane, Lydia K Wooldridge, Mary A Oliver, Savannah L Speckhart, Kayla J Alward, Jada L Nix, Fernando H Biase, and Alan D Ealy
Melanocortin 4 Receptor-Dependent Mechanism of ACTH in Preventing Anxiety-Like Behaviors and Normalizing Astrocyte Proteins after Early Life Seizures., Mohamed R Khalife, Colin Villarin, Juan Manuel Ruiz, Sam A McClelland, Khalil Abed Rabbo, J Matthew Mahoney, Rod C Scott, and Amanda E Hernan
Automating candidate gene prioritization with large language models: from naive scoring to literature-grounded validation., Taushif Khan, Mohammed Toufiq, Marina Yurieva, Nitaya Indrawattana, Akanitt Jittmittraphap, Nathamon Kosoltanapiwat, Pornpan Pumirat, Passanesh Sukphopetch, Muthita Vanaporn, Karolina Palucka, Basirudeen Syed Ahamed Kabeer, Darawan Rinchai, and Damien Chaussabel
Non-neutralizing antibodies to influenza A matrix-protein-2-ectodomain are broadly effective therapeutics and resistant to viral escape mutations., Teha Kim, Lynn Bimler, Sydney L Ronzulli, Amber Y Song, Scott K Johnson, Cheryl A Jones, S Mark Tompkins, and Silke Paust
Mis-splicing-derived neoantigens and cognate TCRs in splicing factor mutant leukemias., Won Jun Kim, Edie I Crosse, Emma De Neef, Inaki Etxeberria, Erich Y Sabio, Eric Wang, Jan Philipp Bewersdorf, Kuan-Ting Lin, Sydney X Lu, Andrea Belleville, Nina Fox, Cynthia Castro, Pu Zhang, Takeshi Fujino, Jennifer Lewis, Jahan Rahman, Beatrice Zhang, Jacob H Winick, Alexander M Lewis, Robert F Stanley, Susan DeWolf, Brigita Meškauskaitė Urben, Meril Takizawa, Tobias Krause, Henrik Molina, Ronan Chaligne, Priya Koppikar, Jeffrey Molldrem, Mathieu Gigoux, Taha Merghoub, Anthony Daniyan, Smita S Chandran, Benjamin D Greenbaum, Christopher A Klebanoff, Robert K Bradley, and Omar Abdel-Wahab
Not a hair out of place: Polarizing and orienting sensory hair cells., Katie S Kindt and Basile Tarchini
FYN regulates aqueous humor outflow and IOP through the phosphorylation of VE-CADHERIN., Krishnakumar Kizhatil, Graham Clark, Daniel K Sunderland, Aakriti Bhandari, Logan J Horbal, Revathi Balasubramanian, and Simon W M John
Workshop Report-Heterogeneity and Successful Aging Part I: Heterogeneity in Aging-Challenges and Opportunities., George A Kuchel, Andrea L Hevener, J Graham Ruby, Paola Sebastiani, and Vivek Kumar
Workshop Report-Heterogeneity and Successful Aging Part II: Approaches to Investigate Heterogeneity in Aging Research., Vivek Kumar, Andrea L Hevener, J Graham Ruby, Paola Sebastiani, George A Kuchel, and Participants of the NIA Heterogeneity and Successful Aging Workshop
Resistin-like molecule γ attacks cardiomyocyte membranes and promotes ventricular tachycardia., Nina Kumowski, Steffen Pabel, Jana Grune, Noor Momin, Van K Ninh, Laura Stengel, Kyle I Mentkowski, Yoshiko Iwamoto, Yi Zheng, I-Hsiu Lee, Jessica Matthias, Jan O Wirth, Fadi E Pulous, Hana Seung, Alexandre Paccalet, Charlotte G Muse, Kenneth K Y Ting, Paul Delgado, Andrew J M Lewis, Vaishali Kaushal, Antonia Kreso, Dennis Brown, Sikander Hayat, Rafael Kramann, Filip K Swirski, Kamila Naxerova, Daniel C Propheter, Lora V Hooper, Michael A Moskowitz, Kevin R King, Nadia Rosenthal, Maarten Hulsmans, and Matthias Nahrendorf
From Human to Mouse and Back Again: Genetic and Genomic Ta(i)les of Islet Dysfunction in Type 2 Diabetes., Romy Kursawe, Khushdeep Bandesh, Sai Nivedita Krishnan, Kevin S Liu, Redwan M Bhuiyan, and Michael L. Stitzel
Extracellular peroxiredoxin 5 exacerbates atherosclerosis via the TLR4/MyD88 pathway., Hyae Yon Kweon, Eun Ju Song, Se-Jin Jeong, SoonHo Lee, Seong-Keun Sonn, Seungwoon Seo, Jing Jin, Sinai Kim, Tae Kyeong Kim, Shin Hye Moon, Doyeon Kim, Young Mi Park, Hyun Ae Woo, and Goo Taeg Oh
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses., Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Anna K Sommer, German Demidov, Kornelia Ellwanger, Ida Paramonov, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F Chinnery, Jill Clayton-Smith, Enzo Cohen, Daniel Danis, Jean-Madeleine de Sainte Agathe, Anne-Sophie Denommé-Pichon, Jordi Diaz-Manera, Stephanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia-Pelaez, Lena Guillot-Noel, Tobias B Haack, Mike Hanna, Holger Hengel, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Hanns Lochmüller, Estrella López-Martín, Alfons Macaya, Anna Marcé-Grau, Aleš Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Catarina Olimpio, Carla Oliveira, Jaroslava Paulasová Schwabová, Martje G Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukas Ryba, Karolis Šablauskas, Marco Savarese, Ludger Schöls, Leon Schütz, Verena Steinke-Lange, Giovanni Stevanin, Volker Straub, Marc Sturm, Morris A Swertz, Marco Tartaglia, Iris B A W Te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcova, Antonio Vitobello, Janet Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldiz, Luca Zalatnai, Birte Zurek, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RND, Solve-RD consortium, Anthony J Brookes, Teresinha Evangelista, Christian Gilissen, Holm Graessner, Nicoline Hoogerbrugge, Stephan Ossowski, Olaf Riess, Rebecca Schüle, Matthis Synofzik, Alain Verloes, Leslie Matalonga, Han G Brunner, Katja Lohmann, Richarda M de Voer, Ana Töpf, Lisenka E L M Vissers, Sergi Beltran, and Alexander Hoischen
Antisense oligonucleotide-mediated TRA2β poison exon inclusion induces the expression of a lncRNA with anti-tumor effects., Nathan Leclair, Mattia Brugiolo, SungHee Park, Maeva Devoucoux, Laura M Urbanski, Brittany Lynn Angarola, Marina Yurieva, and Olga Anczuków
LONP1 regulation of mitochondrial protein folding provides insight into beta cell failure in type 2 diabetes., Jin Li, Yamei Deng, Marie Gasser, Jie Zhu, Emily M Walker, Vaibhav Sidarala, Emma C Reck, Dre L Hubers, Mabelle B Pasmooij, Chun-Shik Shin, Khushdeep Bandesh, Efthymios Motakis, Siddhi Nargund, Romy Kursawe, Venkatesha Basrur, Alexey I Nesvizhskii, Michael L. Stitzel, David C Chan, Guy A Rutter, and Scott A Soleimanpour
Advancing biological understanding of cellular senescence with computational multiomics., Sheng Li, Paula A Agudelo Garcia, Constantin Aliferis, Michael J Becich, Jazmin Calyeca, Benjamin D Cosgrove, Jennifer Elisseeff, Negin Farzad, Elana J Fertig, Carolyn Glass, Liangcai Gu, Qianjiang Hu, Zhicheng Ji, Melanie Königshoff, Nathan K LeBrasseur, Dongmei Li, Anjun Ma, Qin Ma, Vilas Menon, Jacob T Mitchell, Ana L Mora, Sushma Nagaraj, Andrew C Nelson, Laura J Niedernhofer, Mauricio Rojas, Hash Brown Taha, Jinhua Wang, Siyuan Wang, Pei-Hsun Wu, Jichun Xie, Ming Xu, Miao Yu, Xu Zhang, Yue Zhao, Peter D Adams, Cristina Aguayo-Mazzucato, Darren J Baker, Christopher Benz, David A Bernlohr, Marta Bueno, Jin Chen, Bennett G Childs, Jeffrey Chuang, Dongjun Chung, Mythili Dileepan, Li Ding, Mingze Dong, Francesca Duncan, Archibald Enninful, William F Flynn, Ana Catarina Franco, David Furman, Vesna Garovic, Stephanie Halene, Allison B Herman, Ann V Hertzel, Kanako Iwasaki, Hyeongseon Jeon, Jeon Woong Kang, Shilpita Karmakar, James L Kirkland, Ron Korstanje, Erich Kummerfeld, Jun Hee Lee, Yang Liu, Yao Lu, Jose Lugo-Martinez, Helene Martini, Simon Melov, Nicolas Musi, João F Passos, Samuel T Peters, Irfan Rahman, Ramalakshmi Ramasamy, Alexandra N Rindone, Paul D Robbins, Paul Robson, Jhonny Rodriguez-Lopez, Lorena Rosas, Nadia Rosenthal, Marissa J Schafer, Birgit Schilling, Elizabeth L Schmidt, Kevin Schneider, Kaustav Sengupta, Jian Shu, Peter T C So, Li Sun, Tamar Tchkonia, Marcos G Teneche, Natalia Vanegas, Julia Wang, Juan Xie, Shanshan Yin, Ke Zhang, Quan Zhu, Rong Fan, and SenNet Consortium
Gut metagenomes reveal interactions between dietary restriction, ageing and the microbiome in genetically diverse mice., Lev Litichevskiy, Maya Considine, Jasleen Gill, Vasuprada Shandar, Timothy O Cox, Hélène C Descamps, Kevin M Wright, Kevin R Amses, Lenka Dohnalová, Megan J Liou, Monika Tetlak, Mario R Galindo-Fiallos, Andrea C Wong, Patrick Lundgren, Junwon Kim, Giulia T Uhr, Ryan J Rahman, Sydney Mason, Carter Merenstein, Frederic D Bushman, Anil Raj, Fiona Harding, Zhenghao Chen, G V Prateek, Martin Mullis, Andrew Deighan, Laura Robinson, Ceylan Tanes, Kyle Bittinger, Meenakshi Chakraborty, Ami S Bhatt, Hongzhe Li, Ian Barnett, Emily R Davenport, Karl W Broman, Maayan Levy, Robert L Cohen, David Botstein, Adam Freund, Andrea Di Francesco, Gary Churchill, Mingyao Li, and Christoph A Thaiss
Under the lens: Taking a close look at the NIH and FDA declarations on animal-based research., Edison Liu
HAND1, partially mediated through ape-specific LTR binding, is essential for human extra-embryonic mesenchyme derivation from iPSCs., Zukai Liu, Yuliana Tan, William F Flynn, Lili Sun, Ponthip Pratumkaew, Juliana Alcoforado Diniz, Nélio A J Oliveira, Justin A McDonough, William C Skarnes, and Paul Robson
Complex genetic variation in nearly complete human genomes., Glennis A Logsdon, Peter Ebert, Peter A Audano, Mark Loftus, David Porubsky, Jana Ebler, Feyza Yilmaz, Pille Hallast, Timofey Prodanov, DongAhn Yoo, Carolyn Paisie, William T Harvey, Xuefang Zhao, Gianni V Martino, Mir Henglin, Katherine M Munson, Keon Rabbani, Chen-Shan Chin, Bida Gu, Hufsah Ashraf, Stephan Scholz, Olanrewaju Austine-Orimoloye, Parithi Balachandran, Marc Jan Bonder, Haoyu Cheng, Zechen Chong, Jonathan Crabtree, Mark Gerstein, Lisbeth A Guethlein, Patrick Hasenfeld, Glenn Hickey, Kendra Hoekzema, Sarah E Hunt, Matthew Jensen, Yunzhe Jiang, Sergey Koren, Youngjun Kwon, Chong Li, Heng Li, Jiaqi Li, Paul J Norman, Keisuke K Oshima, Benedict Paten, Adam M Phillippy, Nicholas R Pollock, Tobias Rausch, Mikko Rautiainen, Yuwei Song, Arda Söylev, Arvis Sulovari, Likhitha Surapaneni, Vasiliki Tsapalou, Weichen Zhou, Ying Zhou, Qihui Zhu, Michael C Zody, Ryan E Mills, Scott E Devine, Xinghua Shi, Michael E Talkowski, Mark J P Chaisson, Alexander T Dilthey, Miriam K Konkel, Jan O Korbel, Charles Lee, Christine R Beck, Evan E Eichler, and Tobias Marschall
Predicting the impact of rare variants on RNA splicing in CAGI6., Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, Andrew G L Douglas, David J Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Danis, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Yuchen Chang, Richard D Bagnall, Stephen M Mount, Brynja Matthiasardottir, Chiaofeng Lin, Thomas van Overeem Hansen, Raphael Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac, and Diana Baralle
The impact of co-housing on murine aging studies., Alison Luciano and Gary Churchill
The impact of co-housing on murine aging studies., Alison Luciano and Gary Churchill
The 2023 medical genetics workforce in the United States., Megan Lyon, Deborah Maiese, Miriam G Blitzer, Rhonda West, Vivian Pan, Cinthya Zepeda Mendoza, Laurie M Connors, Beth Ogata, Erin MacLeod, Nguyen Park, Marci K Sontag, Molly Caisse, Mathew J Edick, Sylvia Mann, Kunal Sanghavi, Joann Bodurtha, and Workgroup NCCMGW
Necrosis drives susceptibility to Mycobacterium tuberculosis in Polg(D257A) mutator mice, C J Mabry, C G Weindel, L W Stranahan, Jordyn J VanPortfliet, J R Davis, E L Martinez, A Phillip West, K L Patrick, and R O Watson
Advancing the science of genomic learning healthcare systems., Teri A Manolio, Renee Rider, Carol J Bult, Rex L Chisholm, Patricia A Deverka, Geoffrey S Ginsburg, Eric D Green, Gail P Jarvik, George A Mensah, Jahnavi Narula, Erin M Ramos, Mary V Relling, Dan M Roden, Robb Rowley, Noura S Abul-Husn, Adam H Buchanan, Christopher G Chute, Guilherme Del Fiol, Gai Elhanan, Susanne B Haga, Rizwan Hamid, Carol R Horowitz, Peter J Hulick, Cynthia A James, Janina M Jeff, Bruce Korf, Latrice Landry, Deven McGraw, Howard L McLeod, Nancy J Mendelsohn, Travis Osterman, Casey Overby Taylor, Daryl Pritchard, Heidi L Rehm, Krystal S Tsosie, Jason L Vassy, Karriem Watson, Ken Wiley, and Marc S Williams
Genetic context modulates aging and degeneration in the murine retina., Olivia J Marola, Michael MacLean, Travis L Cossette, Cory A Diemler, Amanda A Hewes, Alaina M Reagan, Jonathan Nyandu Kanyinda, Daniel A Skelly, and Gareth R Howell
Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons., Mayra Martinez-Sanchez, William C Skarnes, Ashish Jain, Sampath Vemula, Liang Sun, Shira Rockowitz, and Mary C Whitman
The Unified Phenotype Ontology : a framework for cross-species integrative phenomics., Nicolas Matentzoglu, Susan M. Bello, Ray Stefancsik, Sarah M Alghamdi, Anna V Anagnostopoulos, James P Balhoff, Meghan A Balk, Yvonne M Bradford, Yasemin Bridges, Tiffany J Callahan, Harry Caufield, Alayne Cuzick, Leigh Carmody, Anita R Caron, Vinicius de Souza, Stacia R Engel, Petra Fey, Malcolm Fisher, Sarah Gehrke, Christian Grove, Peter Hansen, Nomi L Harris, Midori A Harris, Laura Harris, Arwa Ibrahim, Julius O B Jacobsen, Sebastian Köhler, Julie A McMurry, Violeta Munoz-Fuentes, Monica C Munoz-Torres, Helen Parkinson, Zoë M Pendlington, Clare Pilgrim, Sofia M C Robb, Peter N Robinson, James Seager, Erik Segerdell, Damian Smedley, Elliot Sollis, Sabrina Toro, Nicole Vasilevsky, Valerie Wood, Melissa A Haendel, Christopher J Mungall, James A McLaughlin, and David Osumi-Sutherland
Exploring the transformative effects of calorie restriction on the lacrimal gland in adult mice., Olivier Mauduit, Prashant Kumar, Kaitlin K Scholand, Emre Aksan, Laura Schaefer, Anmar Abu-Romman, Vanessa Delcroix, Zhiyuan Yu, Aude I Sindikubwabo, Ron Korstanje, Helen P Makarenkova, and Cintia S de Paiva
Innovative strategies for the discovery of new drugs against androgenetic alopecia., Kevin J McElwee and John P Sundberg
A New Targeted Transgenic Mouse Line for the Study of Protocadherin γC4., Cathy M McLeod, Camille M Hanes, Leah C Fuller, Samjhana Bhandari, Hannah G Lanthier, Robert W. Burgess, Joshua A Weiner, and Andrew M Garrett
Alpha-smooth muscle actin-expressing dermal sheath cells are a major cellular contributor to heterotopic subcutaneous ossifications in a mouse model of Albright hereditary osteodystrophy., Patrick McMullan, Peter Maye, Sierra H Root, Qingfen Yang, Sarah Edie, David Rowe, Ivo Kalajzic, and Emily L Germain-Lee
Increased longevity of circulating human IgG in an NSG Fc gamma receptor-1 deficient humanized mouse model., Hannah R Megathlin, Lisa Burzenski, Michael A Brehm, Dale L Greiner, Sathy Balu-Iyer, and Leonard D. Shultz
Introducing "Identification Probability" for Automated and Transferable Assessment of Metabolite Identification Confidence in Metabolomics and Related Studies., Thomas O Metz, Christine H Chang, Vasuk Gautam, Afia Anjum, Siyang Tian, Fei Wang, Sean M Colby, Jamie R Nunez, Madison R Blumer, Arthur S Edison, Oliver Fiehn, Dean P Jones, Shuzhao Li, Edward T Morgan, Gary J Patti, Dylan H Ross, Madelyn R Shapiro, Antony J Williams, and David S Wishart
Rapid Changes in Cholinergic Signaling, Myelination, and Thyroid Signaling Pathway Gene Expression in Amygdala Subnuclei in Response to Social Status Maintenance and Reorganization., Tyler M Milewski, Won Lee, Köll R Rada, and James P Curley
Rapid changes in plasma corticosterone and medial amygdala transcriptome profiles during social status change reveal molecular pathways associated with a major life history transition in mouse dominance hierarchies., Tyler M Milewski, Won Lee, Rebecca L Young, Hans A Hofmann, and James P Curley
Integrating exposomics into biomedicine., Gary W Miller and Banbury Exposomics Consortium
Single-cell and bulk transcriptional profiling of mouse ovaries reveals novel genes and pathways associated with DNA damage response in oocytes., Monique Mills, Chihiro Emori, Parveen Kumar, Zachary Boucher, Joshy George, and Ewelina Bolcun-Filas
The Neuromuscular Junction: A Shared Vulnerability in Aging and Disease., Kathryn R Moss, Fereshteh B Darvishi, Yomna Badawi, Lauren A Fish, Jonathan R Funke, Thomas H Pedersen, Richard Robitaille, William David Arnold, Robert W. Burgess, Stephen D Meriney, Hiroshi Nishimune, and Smita Saxena
A Framework for Strengthening The Quantitative Skills/Reasoning Support Ecosystem at Small Liberal Arts Colleges, Laura J. Muller and Melissa Eblen-Zayas
Analysis of lifespan across diversity outbred mouse studies identifies multiple longevity-associated loci., Martin N Mullis, Kevin M Wright, Anil Raj, Daniel M Gatti, Peter C. Reifsnyder, Kevin Flurkey, Jonathan R Archer, Laura Robinson, Andrea Di Francesco, Karen L. Svenson, Ron Korstanje, David E Harrison, J Graham Ruby, and Gary Churchill
Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease., Kiran Musunuru, Sarah A Grandinette, Xiao Wang, Taylor R Hudson, Kevin Briseno, Anne Marie Berry, Julia L Hacker, Alvin Hsu, Rachel A Silverstein, Logan T Hille, Aysel N Ogul, Nancy A Robinson-Garvin, Juliana C Small, Sarah McCague, Samantha M Burke, Christina M Wright, Sarah Bick, Venkata Indurthi, Shweta Sharma, Michael Jepperson, Christopher A Vakulskas, Michael Collingwood, Katie Keogh, Ashley Jacobi, Morgan Sturgeon, Christian Brommel, Ellen Schmaljohn, Gavin Kurgan, Thomas Osborne, He Zhang, Kyle Kinney, Garrett Rettig, Christopher J Barbosa, Sean C Semple, Ying K Tam, Cathleen Lutz, Lindsey A George, Benjamin P Kleinstiver, David R Liu, Kim Ng, Sadik H Kassim, Petros Giannikopoulos, Mohamad-Gabriel Alameh, Fyodor D Urnov, and Rebecca C Ahrens-Nicklas
An epithelial cell culture model for sturgeon integument responds sensitively to 2,3,7,8-tetrachlorodibenzo-p-dioxin exposure., Sumi Nechat, Melina Shadi, Andrea D Schreier, Nann A Fangue, John P Sundberg, and Robert H Rice
SARS-CoV-2 induced immune perturbations in infants vary with disease severity and differ from adults' responses., Djamel Nehar-Belaid, Asunción Mejías, Zhaohui Xu, Radu Marches, Rushil Yerrabelli, Guo Chen, Sara Mertz, Fang Ye, Pablo J Sánchez, John S Tsang, Teresa Aydillo, Lisa Miorin, Anastasija Cupic, Adolfo García-Sastre, Duygu Ucar, Jacques Banchereau, Virginia Pascual, and Octavio Ramilo
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita., Shahrzad Nematollahi, Reggie C Hamdy, Harold van Bosse, Joyce Li, Daniel Blanshay-Goldberg, Johanna I P de Vries, Klaus Dieterich, Isabel Filges, Tanya Bedard, Melissa Haendel, Monica Munoz Torres, Peter N Robinson, and Noémi Dahan-Oliel
Anapc5 and Anapc7 as genetic modifiers of KIF18A function in fertility and mitotic progression., Carleigh Nesbit, Whitney Martin, Anne M Czechanski, Candice Byers, Narayanan Raghupathy, Ardian Ferraj, Jason Stumpff, and Laura G Reinholdt
Alternative splicing of transposable elements in human breast cancer., Alex V Nesta, Diogo F T Veiga, Jacques Banchereau, Olga Anczuków, and Christine R Beck
Replacing non-biomedical concepts improves embedding of biomedical concepts., Enock Niyonkuru, Mauricio Soto Gomez, Elena Casarighi, Stephan Antogiovanni, Hannah Blau, Justin T Reese, Giorgio Valentini, and Peter N Robinson
The multilayered transcriptional architecture of glioblastoma ecosystems., Masashi Nomura, Avishay Spitzer, Kevin C Johnson, Luciano Garofano, Djamel Nehar-Belaid, Noam Galili Darnell, Alissa C Greenwald, Lillian Bussema, Young Taek Oh, Frederick S Varn, Fulvio D'Angelo, Simon Gritsch, Kevin J Anderson, Simona Migliozzi, L Nicolas Gonzalez Castro, Tamrin ChowdhFury, Nicolas Robine, Catherine Reeves, Jong Bae Park, Anuja Lipsa, Frank Hertel, Anna Golebiewska, Simone P Niclou, Labeeba Nusrat, Sorcha Kellet, Sunit Das, Hyo Eun Moon, Sun Ha Paek, Franck Bielle, Alice Laurenge, Anna Luisa Di Stefano, Bertrand Mathon, Alberto Picca, Marc Sanson, Shota Tanaka, Nobuhito Saito, David M Ashley, Stephen T Keir, Keith L Ligon, Jason T Huse, W K Alfred Yung, Anna Lasorella, Roel G W Verhaak, Antonio Iavarone, Mario L Suvà, and Itay Tirosh
Emerging AI approaches for cancer spatial omics., Javad Noorbakhsh, Ali Foroughi Pour, and Jeffrey Chuang
Health Professionals' Preferences for Next-Generation Sequencing in the Diagnosis of Suspected Genetic Disorders in the Paediatric Population., Mario Cesare Nurchis, Gerardo Altamura, Gian Marco Raspolini, Enrico Capobianco, Luca Salmasi, and Gianfranco Damiani
The Missing Half: Why Sex Differences Matter in Alzheimer's Disease., Kristen M S O'Connell
Spatiotemporal metabolic mapping of ex-situ preserved hearts subjected to dialysis by integration of bio-SPME sampling with non-targeted metabolipidomic profiling., Mariola Olkowicz, Frank Yu, Juglans Souto Alvarez, Roberto Vanin Pinto Ribeiro, Roizar Rosales, Liming Xin, Miao Yu, Karol Jaroch, Mitchell Brady Adamson, Ved Bissoondath, Filio Billia, Mitesh Vallabh Badiwala, and Janusz Pawliszyn
Muscle-derived myostatin is a major endocrine driver of follicle-stimulating hormone synthesis., Luisina Ongaro, Xiang Zhou, Ying Wang, Hailey Schultz, Ziyue Zhou, Evan R S Buddle, Emilie Brûlé, Yeu-Farn Lin, Gauthier Schang, Adam Hagg, Roselyne Castonguay, Yewei Liu, Gloria H Su, Nabil G Seidah, Kevin C Ray, Seth J Karp, Ulrich Boehm, Frederique Ruf-Zamojski, Stuart C Sealfon, Kelly L Walton, Se-Jin Lee, and Daniel J Bernard
Hippocampal-prefrontal functional neural networks in a rat model of fragile X syndrome are poorly organized with limited resiliency., Mohamed Ouardouz, Patrick Jasinski, Mohamed Khalife, J Matthew Mahoney, Amanda E Hernan, and Rod C Scott
Evaluation of hippocampal DLGAP2 overexpression on cognition, synaptic function, and dendritic spine structure in a translationally relevant AD mouse model., Andrew R Ouellette, Kristen M S O'Connell, and Catherine Kaczorowski
Repeated Measures Latent Dirichlet Allocation for Longitudinal Microbiome Analysis, Namitha Viona Pais, Nalini Ravishanker, Sanguthevar Rajasekaran, and George M. Weinstock
Assessment of Antimicrobial Therapy in Eradicating Chlamydia muridarum in Research Mice: Immune Status and Its Impact on Outcomes., Michael B Palillo, Sebastian E Carrasco, Noah Mishkin, Jack A Palillo, Denise B Lynch, Samira Lawton, Mert Aydin, Anthony J Mourino, Neil S Lipman, and Rodolfo J Ricart Arbona
TET2-Mutant Clonal Hematopoiesis Promotes Heart Failure With Preserved Ejection Fraction., Ambarish Pandey, Toby Thomas, Yuanyuan Ji, Benjamin Kroger, Peter Carlsgaard, Camila I Irion, Fatma Kalkan, Matthew Segar, Vinayak Subramanian, Antoni Bayés-Genís, Albert Son, Kira Young, Jennifer J. Trowbridge, Naveen Premnath, Nan Jiang, Daniel Daou, Wenhuo Hu, Sarah A Ware, Dan Tong, and Stephen S Chung
Genetic variation modulates susceptibility to aberrant DNA hypomethylation and imprint deregulation in naive pluripotent stem cells., C Parikh, R A Glenn, Y Shi, K Chatterjee, K Kasliwal, Emily Swanzey, S Singer, S C Do, Y Zhan, Y Furuta, M Tahiliani, E Apostolou, A Polyzos, R Koche, J G Mezey, T Vierbuchen, and M Stadtfeld
Activin E is a new guardian protecting against hepatic steatosis via inhibiting lipolysis in white adipose tissue., Shi-Young Park, Yoonil Cho, Sae-Mi Son, Jang Ho Hur, Yeongmin Kim, Hyunhee Oh, Hui-Young Lee, Sungwon Jung, Sanghee Park, Il-Young Kim, Se-Jin Lee, and Cheol Soo Choi
CT-derived fat density as a predictor of cause-specific mortality in patients undergoing TAVI: Findings from a large registry subanalysis., Matej Pekař, Piotr Branny, Radim Špaček, Otakar Jiravský, Jan Novák, Jakub Balušík, Daniel Daniš, Jan Hečko, Marek Kantor, Bogna Jiravská Godula, Lubomír Blaha, Radek Neuwirth, and Martin Šimek
Opportunities and considerations for using artificial intelligence in bioinformatics education., Stephen R Piccolo, Aparna Nathan, Michelle D Brazas, Manoj Kandpal, Aida T Miró-Herrans, Adam J Kleinschmit, Susan McClatchy, Pertunia Mutheiwana, Dusanka Nikolic, Luciana I Gallo, Rolanda Sunaye Julius, Marta Lloret-Llinares, Nicola Mulder, Danielle Presgraves, Sonal Shewaramani, Jorge Xool-Tamayo, Frédéric J J Chain, and Silvia Arantza Sanchez Guerrero
STAMP: Single-cell transcriptomics analysis and multimodal profiling through imaging., Emanuele Pitino, Anna Pascual-Reguant, Felipe Segato-Dezem, Kellie Wise, Irepan Salvador-Martinez, Helena Lucia Crowell, Maycon Marção, Max Ruiz, Elise T Courtois, William F Flynn, Santhosh Sivajothi, Emily Soja, Ginevra Caratù, German Atzin Mora-Roldan, B Kate Dredge, Yutian Liu, Hannah Chasteen, Monika Mohenska, Juan C Nieto, Raymond K H Yip, Ruvimbo D Mishi, José M Polo, Mohmed Abdalfttah, Adrienne E Sullivan, Jasmine T Plummer, Holger Heyn, and Luciano G Martelotto
Biological databases in the age of generative artificial intelligence., Mihai Pop, Teresa K Attwood, Judith A. Blake, Philip E Bourne, Ana Conesa, Terry Gaasterland, Lawrence Hunter, Carl Kingsford, Oliver Kohlbacher, Thomas Lengauer, Scott Markel, Yves Moreau, William S Noble, Christine Orengo, B F Francis Ouellette, Laxmi Parida, Natasa Przulj, Teresa M Przytycka, Shoba Ranganathan, Russell Schwartz, Alfonso Valencia, and Tandy Warnow
American Hair Research Society Mentorship Grant Program: Short-Term Training Opportunities with Experts., Christopher S Potter, Victoria Ceh, Valerie D Callender, Dirk Elston, Amy McMichael, Paradi Mirmirani, Curtis Thompson, Koen Van de Wetering, and John P Sundberg
Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency., Samia L Pratt, Mariana Zarate-Mendez, Lidiia Koludarova, Sonja Jansson, Mikko Airavaara, Irena Hlushchuk, David Coleman, Caleb Heffner, Rita Horvath, Brendan J Battersby, and Robert W. Burgess
Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency., Maximiliano Presa, Rachel M Bailey, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J Gray, and Cathleen Lutz
Inflammatory stromal and T cells mediate human bone marrow niche remodeling in clonal hematopoiesis and myelodysplasia., Karin D Prummel, Kevin Woods, Maksim Kholmatov, Eric C Schmitt, Evi P Vlachou, Mayssa Labyadh, Rebekka Wehner, Gereon Poschmann, Kai Stühler, Susann Winter, Uta Oelschlaegel, Manja Wobus, Logan S Schwartz, Pedro L Moura, Eva Hellström-Lindberg, Krishnaraj Rajalingam, Matthias Theobald, Jennifer J. Trowbridge, Clémence Carron, Thierry Jaffredo, Marc Schmitz, Uwe Platzbecker, Judith B Zaugg, and Borhane Guezguez
Direct-in-NOD genetic ablation of Bcl3 leads to complete type 1 diabetes protection., Jeremy Racine, Jennifer R Dwyer, Harold D Chapman, Amy Bell, Raymond F. Robledo, and David V. Serreze
Characterization and automated classification of sentences in the biomedical literature: a case study for biocuration of gene expression and protein kinase activity., Daniela Raciti, Kimberly M Van Auken, Valerio Arnaboldi, Christopher J Tabone, Hans-Michael Muller, and Paul W Sternberg
Comparison of Lysis and Amplification Methodologies for Optimal 16S rRNA Gene Profiling for Human and Mouse Microbiome Studies., Farzaneh Rastegari, Mark Driscoll, Jesse D Riordan, Joseph H Nadeau, Jethro Johnson, and George M. Weinstock
Biological modifications of the immune response to COVID-19 vaccine in patients treated with rituximab and immune checkpoint inhibitors., Francesco Ravera, Martina Dameri, Isabella Lombardo, Mario Stabile, Pamela Becherini, Neri Fallani, Camilla Scarsi, Benedetta Cigolini, Giusy Gentilcore, Alexander Domnich, Lodovica Zullo, Eugenia Cella, Giulia Francia, Eugenia Montanari, Andrea Orsi, Andrea Bellodi, Fabio Ferrando, Darawan Rinchai, Filippo Ballerini, Bianca Bruzzone, Damien Chaussabel, Jean-Charles Grivel, Carlo Genova, Roberto Massimo Lemoli, Davide Bedognetti, Alberto Ballestrero, Lorenzo Ferrando, and Gabriele Zoppoli
Chromatin State Maps of Blood Pressure-Relevant Renal Segments Reveal Potential Regulatory Role for SNPs., Atrayee Ray, Chun Yang, Cary Stelloh, Monika Tutaj, Pengyuan Liu, Yong Liu, Qiongzi Qiu, Paul L Auer, Chien-Wei Lin, Michael E Widlansky, Aron M Geurts, Allen W Cowley, Mingyu Liang, Anne E Kwitek, Andrew S Greene, and Sridhar Rao
Retinal vascular dysfunction in the Mthfr(677C>T) mouse model of cerebrovascular disease, Alaina M Reagan, Michael MacLean, Travis L Cossette, and Gareth R Howell
Connecting research and clinical practice: training the next generation of translational scientists., Kate Reed, Laura Ciaccia West, Maggie Deagon, Lindsey Kelley, Therese Ingram, and Leah C. Graham
The rare-to-common disease journey: a winding road to new therapies., Laura G Reinholdt, Elissa J Chesler, Martin Pera, and Nadia Rosenthal
Arginine metabolism is a biomarker of red blood cell and human aging., Julie A Reisz, Eric J Earley, Travis Nemkov, Alicia Key, Daniel Stephenson, Gregory R Keele, Monika Dzieciatkowska, Steven L Spitalnik, Eldad A Hod, Steven Kleinman, Nareg H Roubinian, Mark T Gladwin, Kirk C Hansen, Philip J Norris, Michael P Busch, James C Zimring, Gary Churchill, Grier P Page, and Angelo D'Alessandro
In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome., Tinna Reynisdottir, Kimberley J Anderson, Katrin Möller, Stefán Pétursson, Andrew Brinn, Katheryn P Franklin, Juan Ouyang, Asbjorg O Snorradottir, Cathleen Lutz, Aamir Zuberi, Valerie B DeLeon, and Hans T Bjornsson
SARM1 Inhibition in Three Mouse Models of Charcot-Marie-Tooth Disease., Alaura D Rice, Abby Tadenev, Timothy J Hines, Jonathan R Funke, and Robert W. Burgess
Employee Perspectives on Genetic Testing in the Workplace: Results from a National Survey., J Scott Roberts, Wendy R Uhlmann, Drew Blasco, Anya E R Prince, Sarah McCain, Subhamoy Pal, Kunal Sanghavi, Elizabeth Charnysh, and Charles Lee
A Rare-in-Common Paradigm for Precision Genomic Medicine., Peter N Robinson
Harmonizing mouse anatomy terminology: a common language?, Jesús Ruberte, Paul N Schofield, John P Sundberg, Sergi Olvera-Maneu, and Ana Carretero
Spatiotemporal Profiling Defines Persistence and Resistance Dynamics during Targeted Treatment of Melanoma., Jill C Rubinstein, Sergii Domanskyi, Todd B Sheridan, Brian J Sanderson, SungHee Park, Jessica Kaster, Haiyin Li, Olga Anczuków, Meenhard Herlyn, and Jeffrey Chuang
Exploring the composition of placental microbiome and its potential origin in preterm birth., Marwa Saadaoui, Mohamed Nadhir Djekidel, Selvasankar Murugesan, Manoj Kumar, Duaa Elhag, Parul Singh, Basirudeen Syed Ahamed Kabeer, Alexandra Katharina Marr, Tomoshige Kino, Tobias Brummaier, Rose McGready, François Nosten, Damien Chaussabel, Annalisa Terranegra, and Souhaila Al Khodor
Machine vision-based frailty assessment for genetically diverse mice., Gautam S Sabnis, Gary Churchill, and Vivek Kumar
Machine vision-based frailty assessment for genetically diverse mice., Gautam S Sabnis, Gary Churchill, and Vivek Kumar
Chapter 29 - The informatics of developmental phenotypes, Paul N. Schofield, Robert Hoehndorf, Georgios V. Gkoutos, and Cynthia Smith
Merritt-Putnam Symposium | Developmental and Epileptic Encephalopathies-Current Concepts and Novel Approaches., Rodney C Scott, Jenny Hsieh, Amy McTague, J Matthew Mahoney, and Catherine A Christian-Hinman
Mechanisms of tandem duplication in the cancer genome., Ralph Scully, Dominik Glodzik, Francesca Menghi, Edison Liu, and Cheng-Zhong Zhang
Humanized Mouse Models for Type 1 Diabetes., David V. Serreze, Marissa Tousey-Pfarrer, and Jeremy Racine
CASCADES, a novel SOX2 super-enhancer-associated long noncoding RNA, regulates cancer stem cell specification and differentiation in glioblastoma., Uswa Shahzad, Marina Nikolopoulos, Christopher Li, Michael Johnston, Jenny J Wang, Nesrin Sabha, Frederick S Varn, Alexandra Riemenschneider, Stacey Krumholtz, Pranathi Meda Krishnamurthy, Christian A Smith, Jason Karamchandani, Jonathan K Watts, Roel G W Verhaak, Marco Gallo, James T Rutka, and Sunit Das