Results 201 to 210 of about 219,883 (262)
Establishment and multifaceted characterization of a graded spinal cord injury model based on graduated impact depth
Animal Models and Experimental Medicine, EarlyView.We established a graded spinal cord injury (SCI) model based on graduated impact depth, which was subsequently characterized across multiple dimensions, including locomotor function, imaging, histology, and transcriptomic profiles. We further identified transcriptomic changes in graded SCI at different time points postinjury and investigated the ...Gang Zhou, Yue Hu, Zhimin Li, Shiyuan Han, Yuejia Li, Yongning Li, Jun Gao +6 morewiley +1 more sourceA comprehensive proteome and phosphoproteome atlas across nine organs of the Chinese hamster
Animal Models and Experimental Medicine, EarlyView.This study presents the first comprehensive proteome and phosphoproteome atlas of the Chinese hamster across nine organs (heart, liver, lung, kidney, spleen, cerebral cortex, skeletal muscle, stomach, and testis or ovary). A total of 14 219 proteins were identified in the proteome, with 11 828 phosphorylated proteins and 47 122 phosphorylation sites ...Luyao Zhang, Tao Ding, Wanjun Peng, Jie Kong, Xiaoyue Tang, Jiyu Xu, Qiaochu Wang, Zhiyi Zhang, Chunmei Shi, Yizhuo Tian, Huilan Yang, Yehong Yang, Yue Wu, Xiaoyan Liu, Jiangfeng Liu, Juntao Yang +15 morewiley +1 more sourceThe Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model
Annals of Neurology, EarlyView.Objective
Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe +104 morewiley +1 more sourceFibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Annals of Neurology, EarlyView.Objective
Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods
We Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech +42 morewiley +1 more sourceTumour-wide RNA splicing aberrations generate actionable public neoantigens. [PDF]
NatureKwok DW, Stevers NO, Etxeberria I, Nejo T, Colton Cove M, Chen LH, Jung J, Okada K, Lakshmanachetty S, Gallus M, Barpanda A, Hong C, Chan GKL, Liu J, Wu SH, Ramos E, Yamamichi A, Watchmaker PB, Ogino H, Saijo A, Du A, Grishanina NR, Woo J, Diaz A, Hervey-Jumper SL, Chang SM, Phillips JJ, Wiita AP, Klebanoff CA, Costello JF, Okada H. +30 moreeuropepmc +1 more sourceCETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing. [PDF]
EMBO Mol MedXu J, Mao X, Liu Z, Jiang N, Wong XE, Liu D, Wang Y, Zhan H, Liu S, Yu J, Yuan R, Bai Q, Bai X, Huang W, Xie R, Krenn V, Kirchhoff F, Wang H, Guo Z, Bian S. +19 moreeuropepmc +1 more source
