Now showing items 1-20 of 17922

    • Postmortem neuropathology in early Huntington disease 

      Hedreen, John; Berretta, Sabina; White, Charles III (Oxford University Press (OUP), 2024-03-29)
      Two aspects of the neuropathology of early Huntington disease (HD) are examined. Neurons of the neostriatum are counted to determine relative loss in striosomes versus matrix at early stages, including for the first time ...
    • mRNA splicing targets HIV integration into PAF-1-regulated genes. 

      Singh, Parmit; Annamalai, Arun; Kvaratkshelia, Mamuka; Engelman, Alan (2024-03-01)
      Pre-mRNA co-transcriptional splicing is coupled with promoter-proximal Pol II pausing and alternative polyadenylation (APA)1,2. Splicing inhibitors increase pausing and the use of upstream or proximal polyadenylation sites ...
    • LanTERN: A Fluorescent Sensor That Specifically Responds to Lanthanides 

      Jones, Ethan; Su, Yang; Sander, Chris; Justman, Quincey A.; Springer, Michael; Silver, Pamela A; Silver, Pamela (American Chemical Society (ACS), 2024-02-20)
      Lanthanides, a series of 15 f-block elements, are crucial in modern technology, and their purification by conventional chemical means comes at a significant environmental cost. Synthetic biology offers promising solutions. ...
    • Genomic data in the All of Us Research Program 

      Bick, Alexander G.; Metcalf, Ginger A.; Mayo, Kelsey R.; Lichtenstein, Lee; Rura, Shimon; Carroll, Robert J.; Musick, Anjene; Linder, Jodell E.; Jordan, I. King; Nagar, Shashwat Deepali; Sharma, Shivam; Meller, Robert; Basford, Melissa; Boerwinkle, Eric; Cicek, Mine S.; Doheny, Kimberly F.; Eichler, Evan E.; Gabriel, Stacey; Gibbs, Richard A.; Glazer, David; Harris, Paul A.; Jarvik, Gail P.; Philippakis, Anthony; Rehm, Heidi L.; Roden, Dan M.; Thibodeau, Stephen N.; Topper, Scott; Blegen, Ashley L.; Wirkus, Samantha J.; Wagner, Victoria A.; Meyer, Jeffrey G.; Cicek, Mine S.; Muzny, Donna M.; Venner, Eric; Mawhinney, Michelle Z.; Griffith, Sean M. L.; Hsu, Elvin; Ling, Hua; Adams, Marcia K.; Walker, Kimberly; Hu, Jianhong; Doddapaneni, Harsha; Kovar, Christie L.; Murugan, Mullai; Dugan, Shannon; Khan, Ziad; Boerwinkle, Eric; Lennon, Niall J.; Austin-Tse, Christina; Banks, Eric; Gatzen, Michael; Gupta, Namrata; Henricks, Emma; Larsson, Katie; McDonough, Sheli; Harrison, Steven M.; Kachulis, Christopher; Lebo, Matthew S.; Neben, Cynthia L.; Steeves, Marcie; Zhou, Alicia Y.; Smith, Joshua D.; Frazar, Christian D.; Davis, Colleen P.; Patterson, Karynne E.; Wheeler, Marsha M.; McGee, Sean; Lockwood, Christina M.; Shirts, Brian H.; Pritchard, Colin C.; Murray, Mitzi L.; Vasta, Valeria; Leistritz, Dru; Richardson, Matthew A.; Buchan, Jillian G.; Radhakrishnan, Aparna; Krumm, Niklas; Ehmen, Brenna W.; Schwartz, Sophie; Aster, M. Morgan T.; Cibulskis, Kristian; Haessly, Andrea; Asch, Rebecca; Cremer, Aurora; Degatano, Kylee; Shergill, Akum; Gauthier, Laura D.; Lee, Samuel K.; Hatcher, Aaron; Grant, George B.; Brandt, Genevieve R.; Covarrubias, Miguel; Banks, Eric; Able, Ashley; Green, Ashley E.; Carroll, Robert J.; Zhang, Jennifer; Condon, Henry R.; Wang, Yuanyuan; Dillon, Moira K.; Albach, C. H.; Baalawi, Wail; Choi, Seung Hoan; Wang, Xin; Rosenthal, Elisabeth A.; Ramirez, Andrea H.; Lim, Sokny; Nambiar, Siddhartha; Ozenberger, Bradley; Wise, Anastasia L.; Lunt, Chris; Ginsburg, Geoffrey S.; Denny, Joshua C. (Springer Science and Business Media LLC, 2024-02-19)
      Comprehensively mapping the genetic basis of human disease across diverse individuals is a longstanding goal for the field of human genetics.1-4 The All of Us Research Program is a longitudinal cohort aiming to enroll a ...
    • Dynamic computational phenotyping of human cognition 

      Schurr, Roey; Reznik, Daniel; Hillman, Hanna; Bhui, Rahul; Gershman, Samuel J. (Springer Science and Business Media LLC, 2024-02-08)
      Computational phenotyping has emerged as a powerful tool for characterizing individual variability across a variety of cognitive domains. An individual's computational phenotype is defined as a set of mechanistically ...
    • Transforming a head direction signal into a goal-oriented steering command 

      Westeinde, Elena; Kellogg, Emily; Dawson, Paul; Lu, Jenny; Hamburg, Lydia; Midler, Benjamin; Druckmann, Shaul; Wilson, Rachel I. (Springer Science and Business Media LLC, 2024-02-07)
      <jats:title>Abstract</jats:title><jats:p>To navigate, we must continuously estimate the direction we are headed in, and we must use this information to guide our path toward our goal<jats:sup>1</jats:sup>. Direction ...
    • Convergence of coronary artery disease genes onto endothelial cell programs 

      Schnitzler, Gavin R.; Kang, Helen; Fang, Shi; Angom, Ramcharan S.; Lee-Kim, Vivian S.; Ma, X. Rosa; Zhou, Ronghao; Zeng, Tony; Guo, Katherine; Taylor, Martin S.; Vellarikkal, Shamsudheen K.; Barry, Aurelie E.; Sias-Garcia, Oscar; Bloemendal, Alex; Munson, Glen; Guckelberger, Philine; Nguyen, Tung H.; Bergman, Drew T.; Hinshaw, Stephen; Cheng, Nathan; Cleary, Brian; Aragam, Krishna; Lander, Eric S.; Finucane, Hilary K.; Mukhopadhyay, Debabrata; Gupta, Rajat; Engreitz, Jesse M. (Springer Science and Business Media LLC, 2024-02-07)
      Linking variants from genome-wide association studies (GWAS) to underlying mechanisms of disease remains a challenge1,4,6. For some diseases, a successful strategy has been to look for cases where multiple GWAS loci contain ...
    • Single-neuronal elements of speech production in humans 

      Khanna, Arjun R.; Munoz Miranda, William; Kim, Young J.; Kfir, Yoav; Paulk, Angelique C.; Jamali, Mohsen; Cai, Jing; Mustroph, Martina; Caprara, Irene; Hardstone, Richard; Meszena, Domokos; Zuckerman, Abigail; Schweitzer, Jeffrey; Cash, Sydney; Williams, Ziv M. (Springer Science and Business Media LLC, 2024-01-31)
      Humans are capable of generating extraordinarily diverse articulatory movement combinations in order to produce meaningful speech. This ability to orchestrate specific phonetic sequences, their syllabification and inflection ...
    • Deciphering cell states and genealogies of human hematopoiesis 

      Weng, Chen; Yu, Fulong; Yang, Dian; Poeschla, Michael; Liggett, L. Alexander; Jones, Matthew G.; Qiu, Xiaojie; Wahlster, Lara; Caulier, Alexis; Hussmann, Jeffrey A.; Schnell, Alexandra; Yost, Kathryn E.; Koblan, Luke; Martin-Rufino, Jorge D.; Min, Joseph; Hammond, Alessandro; Ssozi, Daniel; Bueno, Raphael; Mallidi, Hari; Kreso, Antonia; Escabi, Javier; Rideout, William M.; Jacks, Tyler; Hormoz, Sahand; van Galen, Peter; Weissman, Jonathan S.; Sankaran, Vijay G. (Springer Science and Business Media LLC, 2024-01-22)
    • Covalent inhibition of pro-apoptotic BAX 

      Mchenry, Matthew; Shi, Peiwen; Camara, Christina M.; Cohen, Daniel T.; Rettenmaier, T. Justin; Adhikary, Utsarga; Gygi, Micah A.; Yang, Ka; Gygi, Steven P.; Wales, Thomas E.; Engen, John R.; Wells, James A.; Walensky, Loren D. (Springer Science and Business Media LLC, 2024-01-17)
    • Thermal-plex: fluidic-free, rapid sequential multiplexed imaging with DNA-encoded thermal channels 

      Hong, Fan; Kishi, Jocelyn; Delgado, Ryan; Jeong, Jiyoun; Saka Kirli, Sinem; Su, Hanquan; Cepko, Constance; Yin, Peng (Springer Science and Business Media LLC, 2023-12-27)
      Multiplexed fluorescence imaging is typically limited to three- to five-plex on standard setups. Sequential imaging methods based on iterative labeling and imaging enable practical higher multiplexing, but generally require ...
    • Automated neuron tracking inside moving and deforming C. elegans using deep learning and targeted augmentation 

      Park, Core Francisco; Barzegar-Keshteli, Mahsa; Korchagina, Kseniia; Delrocq, Ariane; Susoy, Vladislav; Jones, Corrine; Samuel, Aravinthan DT; Rahi, Sahand J (Springer Science and Business Media LLC, 2023-12-05)
      Recent advances allow sustained rapid 3D functional imaging of large numbers of neurons inside behaving animals. To decode neural activity, individual neurons must be segmented and tracked. This can be challenging inside ...
    • Dynamic regulatory elements in single-cell multimodal data implicate key immune cell states enriched for autoimmune disease heritability 

      Gupta, Anika; Weinand, Kathryn; Nathan, Aparna; Sakaue, Saori; Donlin, Laura; Wei, Kevin; Price, Alkes L; Amariuta, Tiffany; Raychaudhuri, Soumya (Springer Science and Business Media LLC, 2023-11-30)
      In autoimmune diseases such as rheumatoid arthritis (RA), the immune system attacks host tissues1-3. Developing a precise understanding of the fine-grained cell states that mediate the genetics of autoimmunity is critical ...
    • Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution 

      Kang, Joyce B.; Shen, Amber Z.; Gurajala, Saisriram; Nathan, Aparna; Rumker, Laurie; Aguiar, Vitor R. C.; Valencia, Cristian; Lagattuta, Kaitlyn A.; Zhang, Fan; Jonsson, Anna Helena; Yazar, Seyhan; Alquicira-Hernandez, Jose; Khalili, Hamed; Ananthakrishnan, Ashwin N.; Jagadeesh, Karthik; Dey, Kushal; Albrecht, Jennifer; Apruzzese, William; Banda, Nirmal; Barnas, Jennifer L.; Bathon, Joan M.; Ben-Artzi, Ami; Boyce, Brendan F.; Boyle, David L.; Bridges, S. Louis; Bykerk, Vivian P.; Campbell, Debbie; Carr, Hayley L.; Ceponis, Arnold; Chicoine, Adam; Cordle, Andrew; Curtis, Michelle; Deane, Kevin D.; DiCarlo, Edward; Dunn, Patrick; Filer, Andrew; Firestein, Gary S.; Forbess, Lindsy; Geraldino-Pardilla, Laura; Goodman, Susan M.; Gravallese, Ellen M.; Gregersen, Peter K.; Guthridge, Joel M.; Holers, V. Michael; Horowitz, Diane; Hughes, Laura B.; Ishigaki, Kazuyoshi; Ivashkiv, Lionel B.; James, Judith A.; Keras, Gregory; Korsunsky, Ilya; Lakhanpal, Amit; Lederer, James A.; Lewis, Myles; Li, Zhihan J.; Li, Yuhong; Liao, Katherine P.; Mandelin, Arthur M.; Mantel, Ian; Marks, Kathryne E.; Maybury, Mark; McDavid, Andrew; McGeachy, Mandy J.; Mears, Joseph; Meednu, Nida; Millard, Nghia; Moreland, Larry W.; Nayar, Saba; Nerviani, Alessandra; Orange, Dana E.; Perlman, Harris; Pitzalis, Costantino; Rangel-Moreno, Javier; Raza, Karim; Reshef, Yakir; Ritchlin, Christopher; Rivellese, Felice; Robinson, William H.; Sahbudin, Ilfita; Singaraju, Anvita; Seifert, Jennifer A.; Slowikowski, Kamil; Smith, Melanie H.; Tabechian, Darren; Scheel-Toellner, Dagmar; Utz, Paul J.; Watts, Gerald F. M.; Wei, Kevin; Weinand, Kathryn; Weisenfeld, Dana; Weisman, Michael H.; Wyse, Aaron; Xiao, Qian; Zhu, Zhu; Daly, Mark J.; Xavier, Ramnik J.; Donlin, Laura T.; Anolik, Jennifer H.; Powell, Joseph E.; Rao, Deepak A.; Brenner, Michael B.; Gutierrez-Arcelus, Maria; Luo, Yang; Sakaue, Saori; Raychaudhuri, Soumya (Springer Science and Business Media LLC, 2023-11-30)
      The human leukocyte antigen (HLA) locus plays a critical role in complex traits spanning autoimmune and infectious diseases, transplantation, and cancer. While coding variation in HLA genes has been extensively documented, ...
    • Genetic continuity and change among the Indigenous peoples of California 

      Nakatsuka, Nathan; Holguin, Brian; Sedig, Jakob; Langenwalter, Paul E.; Carpenter, John; Culleton, Brendan J.; García-Moreno, Cristina; Harper, Thomas K.; Martin, Debra; Martínez-Ramírez, Júpiter; Porcayo-Michelini, Antonio; Tiesler, Vera; Villapando-Canchola, M. Elisa; Valdes Herrera, Alejandro; Callan, Kim; Curtis, Elizabeth; Kearns, Aisling; Iliev, Lora; Lawson, Ann Marie; Mah, Matthew; Mallick, Swapan; Micco, Adam; Michel, Megan; Workman, J. Noah; Oppenheimer, Jonas; Qiu, Lijun; Zalzala, Fatma; Rohland, Nadin; Punzo Diaz, Jose Luis; Johnson, John R.; Reich, David (Springer Science and Business Media LLC, 2023-11-22)
      Prior to colonialism, California harbored more language variation than all of Europe, and linguistic and archaeological analysis have led to many hypotheses to explain this diversity 1. We report genome-wide data from 80 ...
    • Structural basis of Gabija anti-phage defence and viral immune evasion 

      Antine, Sadie; Johnson, Alex G.; Mooney, Sarah E.; Leavitt, Azita; Mayer, Megan L.; Yirmiya, Erez; Amitai, Gil; Sorek, Rotem; Kranzusch, Philip J. (Springer Science and Business Media LLC, 2023-11-22)
      Bacteria encode hundreds of diverse defense systems that protect from viral infection and inhibit phage propagation1–5. Gabija is one of the most prevalent anti-phage defense systems, occurring in >15% of all sequenced ...
    • Targeting ROS production through inhibition of NADPH oxidases 

      Costa Reis, Joana Alexandra; Gorgulla, Christoph; Massari, Marta; Marchese, Sara; Valente, Sergio; Noce, Beatrice; Basiles, Lorenzo; Törner, Ricarda; Cox III, Huel; Viennet, Thibault; Yang, Moon Hee; Ronan, Melissa M.; Rees, Matthew G.; Roth, Jennifer A.; Capasso, Lucia; Nebbioso, Angela; Altucci, Lucia; Mai, Antonello; Arthanari, Haribabu; Mattevi, Andrea (Springer Science and Business Media LLC, 2023-10-26)
    • Association of probable post-traumatic stress disorder with dietary pattern and gut microbiome in a cohort of women 

      Ke, Shanlin; Wang, Xu-Wen; Ratanatharathorn, Andrew; Huang, Tianyi; Roberts, Andrea L.; Grodstein, Francine; Kubzansky, Laura D.; Koenen, Karestan C.; Liu, Yang-Yu (Springer Science and Business Media LLC, 2023-10-19)
      Post-Traumatic Stress Disorder (PTSD) is a psychiatric condition that may occur in people who have experienced or witnessed traumatic or horrifying events. PTSD has been linked to an increased risk of various chronic ...
    • Targeting PGLYRP1 promotes antitumor immunity while inhibiting autoimmune neuroinflammation 

      Schnell, Alexandra; Huang, Linglin; Regan, Brianna; Vonficht, Dominik; Bollhagen, Alina; Wang, Mona; Hou, Yu; Bod, Lloyd; Chihara, Norio; Madi, Asaf; Anderson, Ana; Kuchroo, Vijay (Springer Science and Business Media LLC, 2023-10-12)
      Co-inhibitory and checkpoint molecules suppress T-cell function in the tumor microenvironment, thereby rendering T cells dysfunctional. While immune checkpoint blockade (ICB) has emerged as a successful treatment option ...
    • Learning from prepandemic data to forecast viral escape 

      Thadani, Nicole; Gurev, Sarah; Notin, Pascal; Youssef, Noor; Rollins, Nathan; Ritter, Daniel; Sander, Chris; Gal, Yarin; Marks, Debora (Springer Science and Business Media LLC, 2023-10-11)
      <jats:title>Summary</jats:title><jats:p>Effective pandemic preparedness relies on anticipating viral mutations that are able to evade host immune responses in order to facilitate vaccine and therapeutic design. However, ...