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Medical Research

  • A protocol for single nucleus RNA-seq from frozen skeletal muscle
    Open Access
    A protocol for single nucleus RNA-seq from frozen skeletal muscle

    Tyler GB Soule, Carly S Pontifex, Nicole Rosin, Matthew M Joel, Sukyoung Lee, Minh Dang Nguyen, Sameer Chhibber, Gerald Pfeffer

    Tyler GB Soule ... Gerald Pfeffer

    Published 13 March 2023

    The authors detail a method to isolate nuclei for single nucleus RNA sequencing from frozen, biobanked human skeletal muscle samples.

  • Plasma proteome dynamics of COVID-19 severity learnt by a graph convolutional network of multi-scale topology
    Open Access
    Plasma proteome dynamics of COVID-19 severity learnt by a graph convolutional network of multi-scale topology

    Samy Gauthier, Alexy Tran-Dinh, Ian Morilla

    Samy Gauthier ... Ian Morilla

    Published 20 February 2023

    We used a graph convolutional network to model the plasma proteome of 384 COVID-19 patients. The model incorporates clinical data and is able to predict severity. We identified the proteins that shifted most in expression depending on severity.

  • Lung macrophages utilize unique cathepsin K–dependent phagosomal machinery to degrade intracellular collagen
    Open Access
    Lung macrophages utilize unique cathepsin K–dependent phagosomal machinery to degrade intracellular collagen

    Ivo Fabrik, Orsolya Bilkei-Gorzo, Maria Öberg, Daniela Fabrikova, Johannes Fuchs, Carina Sihlbom, Melker Göransson, Anetta Härtlova

    Ivo Fabrik ... Anetta Härtlova

    Published 25 January 2023

    This study provides a comprehensive map of how peritoneal, lung, and brain tissue environment shapes phagosomal composition, revealing cathepsin K as the main peptidase in the intracellular destruction of collagen, which is mainly active in lung macrophages.

  • Disease- and sex-specific differences in patients with heart valve disease: a proteome study
    Open Access
    Disease- and sex-specific differences in patients with heart valve disease: a proteome study

    Sarah Nordmeyer, Milena Kraus, Matthias Ziehm, Marieluise Kirchner, Marie Schafstedde, Marcus Kelm, Sylvia Niquet, Mariet Mathew Stephen, Istvan Baczko, Christoph Knosalla, Matthieu-P Schapranow, Gunnar Dittmar, Michael Gotthardt, Martin Falcke, Vera Regitz-Zagrosek, Titus Kuehne, Philipp Mertins

    Sarah Nordmeyer ... Philipp Mertins

    Published 10 January 2023

    Proteomics provide novel insights into molecular mechanisms and cardiac remodeling in heart failure because of pressure overload in aortic valve stenosis and volume overload in mitral valve regurgitation.

  • Mutation-agnostic RNA interference with engineered replacement rescues <em>Tmc1</em>-related hearing loss
    Open Access
    Mutation-agnostic RNA interference with engineered replacement rescues Tmc1-related hearing loss

    Yoichiro Iwasa, Miles J Klimara, Hidekane Yoshimura, William D Walls, Ryotaro Omichi, Cody A West, Seiji B Shibata, Paul T Ranum, Richard JH Smith

    Yoichiro Iwasa ... Richard JH Smith

    Published 27 December 2022

    Mutation-agnostic RNA interference with concomitant, knockdown-resistant gene replacement, results in robust auditory brainstem response and cochlear hair cell preservation in the murine model of TMC1-related autosomal dominant hearing loss.

  • Kindlin2 enables EphB/ephrinB bi-directional signaling to support vascular development
    Open Access
    Kindlin2 enables EphB/ephrinB bi-directional signaling to support vascular development

    Wenqing Li, Lai Wen, Bhavisha Rathod, Anne-Claude Gingras, Klaus Ley, Ho-Sup Lee

    Wenqing Li ... Ho-Sup Lee

    Published 27 December 2022

    Kindlin2 supports EphB4/ephrinB2 bi-directional signaling functions by associating with a highly conserved NIYY motif in the ephrinB2 cytoplasmic tail to promote ephrinB2 clustering and EphB4 activation, thereby enabling arteriovenous segregation during embryonic development.

  • Transcriptome analyses in infertile men reveal germ cell–specific expression and splicing patterns
    Open Access
    Transcriptome analyses in infertile men reveal germ cell–specific expression and splicing patterns

    Lara M Siebert-Kuss, Henrike Krenz, Tobias Tekath, Marius Wöste, Sara Di Persio, Nicole Terwort, Margot J Wyrwoll, Jann-Frederik Cremers, Joachim Wistuba, Martin Dugas, Sabine Kliesch, Stefan Schlatt, Frank Tüttelmann, Jörg Gromoll, Nina Neuhaus, Sandra Laurentino

    Lara M Siebert-Kuss ... Sandra Laurentino

    Published 29 November 2022

    We uncover extensive germ cell type–dependent transcriptome changes in human spermatogenesis and demonstrate the potential of alternative splicing in the regulation of spermatogenesis.

  • Tanshinone functions as a coenzyme that confers gain of function of NQO1 to suppress ferroptosis
    Open Access
    Tanshinone functions as a coenzyme that confers gain of function of NQO1 to suppress ferroptosis

    Tian-Xiang Wang, Kun-Long Duan, Zi-Xuan Huang, Zi-An Xue, Jun-Yun Liang, Yongjun Dang, Ao Zhang, Yue Xiong, Chunyong Ding, Kun-Liang Guan, Hai-Xin Yuan

    Tian-Xiang Wang ... Hai-Xin Yuan

    Published 1 November 2022

    NQO1 catalyzes the reduction of tanshinones to detoxify lipid peroxyl radicals and inhibit ferroptosis both in vitro and in vivo, providing a molecular mechanism for the therapeutic effects of tanshinones, such as cardiac protection.

  • A prediction model for COVID-19 liver dysfunction in patients with normal hepatic biochemical parameters
    Open Access
    A prediction model for COVID-19 liver dysfunction in patients with normal hepatic biochemical parameters

    Jianfeng Bao, Shourong Liu, Xiao Liang, Congcong Wang, Lili Cao, Zhaoyi Li, Furong Wei, Ai Fu, Yingqiu Shi, Bo Shen, Xiaoli Zhu, Yuge Zhao, Hong Liu, Liangbin Miao, Yi Wang, Shuang Liang, Linyan Wu, Jinsong Huang, Tiannan Guo, Fang Liu

    Jianfeng Bao ... Fang Liu

    Published 19 October 2022

    The composite model of sex and the novel protein marker ANGL3 exhibits great potential in predicting the risk of developing LD in COVID-19 patients with normal hepatic biochemical parameters on admission.

  • Mitochondrial stress-induced GFRAL signaling controls diurnal food intake and anxiety-like behavior
    Open Access
    Mitochondrial stress-induced GFRAL signaling controls diurnal food intake and anxiety-like behavior

    Carla Igual Gil, Bethany M Coull, Wenke Jonas, Rachel N Lippert, Susanne Klaus, Mario Ost

    Carla Igual Gil ... Mario Ost

    Published 6 September 2022

    Muscle mitochondrial stress signals to the brain via hindbrain-specific GFRAL receptor signaling to promote hypothalamic CRH induction, which associates with GFRAL-dependent modulation of systemic energy metabolism, diurnal food intake, and anxiety-like behavior.

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