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Medical Research

  • Whole genome sequencing of drug resistance <em>Mycobacterium tuberculosis</em> from extra-pulmonary sites
    Open Access
    Whole genome sequencing of drug resistance Mycobacterium tuberculosis from extra-pulmonary sites

    Tao Shi, Fenyong Shou, Ying He, Kan Zhou, Wenwan Gao, Xiaoping Nie, Mei Han, Chuanyu Liao, Tongxin Li

    Tao Shi ... Tongxin Li

    Published 17 August 2023

    The article summarizes the characteristics of patients with drug resistance extra-pulmonary tuberculosis (DR-EPTB) and gene mutations of drug resistant Mycobacterium tuberculosis (DR-TB) from the patients with EPTB in a municipality of southwest China.

  • <em>SF3B1</em> mutation–mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia
    Open Access
    SF3B1 mutation–mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia

    Irene López-Oreja, André Gohr, Heribert Playa-Albinyana, Ariadna Giró, Fabian Arenas, Morihiro Higashi, Rupal Tripathi, Mònica López-Guerra, Manuel Irimia, Marta Aymerich, Juan Valcárcel, Sophie Bonnal, Dolors Colomer

    Irene López-Oreja ... Dolors Colomer

    Published 10 August 2023

    Understanding the pathogenic mechanisms of SF3B1 mutation can help unravel their contribution in patients’ worse prognosis. The cytotoxic effects and delayed leukemic infiltration induced by H3B-8800 support the potential use of SF3B1 inhibitors as a novel therapy in CLL.

  • Skewed X-inactivation is associated with retinal dystrophy in female carriers of <em>RPGR</em> mutations
    Open Access
    Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations

    Muhammad Usman, Christoph Jüschke, Fei Song, Dennis Kastrati, Marta Owczarek-Lipska, Jannis Eilers, Laurenz Pauleikhoff, Clemens Lange, John Neidhardt

    Muhammad Usman ... John Neidhardt

    Published 4 August 2023

    This study shows that skewed X-inactivation modulates the occurrence of Retinitis Pigmentosa in female carriers of RPGR mutations. The findings have implications towards therapeutic interventions.

  • Inhibition of protein arginine deiminase 4 prevents inflammation-mediated heart failure in arthritis
    Open Access
    Inhibition of protein arginine deiminase 4 prevents inflammation-mediated heart failure in arthritis

    Lukas A Heger, Nicolas Schommer, Shoichi Fukui, Stijn Van Bruggen, Casey E Sheehy, Long Chu, Sridharan Rajagopal, Dhanalakshmi Sivanandhan, Bruce Ewenstein, Denisa D Wagner

    Lukas A Heger ... Denisa D Wagner

    Published 27 July 2023

    Inhibition of protein arginine deiminase 4 (PAD4), with an orally available inhibitor (JBI-589), prevents the development of hypertrophic cardiomyopathy and diastolic heart failure in murine inflammatory arthritis with reduced neutrophil infiltration, NET deposition, and biomarkers of thromboinflammation in the myocardium.

  • Reciprocal regulation between the molecular clock and kidney injury
    Open Access
    Reciprocal regulation between the molecular clock and kidney injury

    Carlos Rey-Serra, Jessica Tituaña, Terry Lin, J Ignacio Herrero, Verónica Miguel, Coral Barbas, Anna Meseguer, Ricardo Ramos, Amandine Chaix, Satchidananda Panda, Santiago Lamas

    Carlos Rey-Serra ... Santiago Lamas

    Published 24 July 2023

    The work describes the crosstalk between the circadian rhythm and kidney damage in several mouse genetic models defining that the molecular clock component Cry is important to regulate inflammation, metabolism, and fibrosis.

  • B-cell targeting with anti-CD38 daratumumab: implications for differentiation and memory responses
    Open Access
    B-cell targeting with anti-CD38 daratumumab: implications for differentiation and memory responses

    Dorit Verhoeven, Lucas Grinwis, Casper Marsman, Machiel H Jansen, T2B Consortium, Ester MM Van Leeuwen, Taco W Kuijpers

    Dorit Verhoeven ... Taco W Kuijpers

    Published 7 July 2023

    Daratumumab is an anti-CD38–targeting antibody that depletes plasma cells. This study shows that daratumumab also disturbs humoral immune responses beyond depletion only and may be used as therapeutic in B cell–mediated autoimmune diseases.

  • Differential roles of FOXC2 in the trabecular meshwork and Schlemm’s canal in glaucomatous pathology
    Open Access
    Differential roles of FOXC2 in the trabecular meshwork and Schlemm’s canal in glaucomatous pathology

    Naoto Ujiie, Pieter R Norden, Raymond Fang, Lisa Beckmann, Zhen Cai, Junghun Kweon, Ting Liu, Can Tan, Megan S Kuhn, W Daniel Stamer, Kazushi Aoto, Susan E Quaggin, Hao F Zhang, Tsutomu Kume

    Naoto Ujiie ... Tsutomu Kume

    Published 6 July 2023

    FOXC2 is required in the Schlemm’s canal endothelium and neural crest-derived trabecular meshwork cells for the morphogenesis and maintenance of Schlemm’s canal.

  • Inhibition of microRNA-33b in humanized mice ameliorates nonalcoholic steatohepatitis
    Open Access
    Inhibition of microRNA-33b in humanized mice ameliorates nonalcoholic steatohepatitis

    Sawa Miyagawa, Takahiro Horie, Tomohiro Nishino, Satoshi Koyama, Toshimitsu Watanabe, Osamu Baba, Tomohiro Yamasaki, Naoya Sowa, Chiharu Otani, Kazuki Matsushita, Hidenori Kojima, Masahiro Kimura, Yasuhiro Nakashima, Satoshi Obika, Yuuya Kasahara, Jun Kotera, Kozo Oka, Ryo Fujita, Takashi Sasaki, Akihiro Takemiya, Koji Hasegawa, Takeshi Kimura, Koh Ono

    Sawa Miyagawa ... Koh Ono

    Published 1 June 2023

    Experiments using humanized mice created by knocking in microRNA (miR)-33b into an intron of Srebf1 show that suppression of miR-33b by nucleic acid drugs is useful for the treatment of NASH.

  • Intranasal soluble ACE2 improves survival and prevents brain SARS-CoV-2 infection
    Open Access
    Intranasal soluble ACE2 improves survival and prevents brain SARS-CoV-2 infection

    Luise Hassler, Jan Wysocki, Jared T Ahrendsen, Minghao Ye, Ian Gelarden, Vlad Nicolaescu, Anastasia Tomatsidou, Haley Gula, Cosimo Cianfarini, Peter Forster, Nigar Khurram, Benjamin D Singer, Glenn Randall, Dominique Missiakas, Jack Henkin, Daniel Batlle

    Luise Hassler ... Daniel Batlle

    Published 11 April 2023

    A soluble ACE2 protein bioengineered to have extended duration of action and enhanced affinity for SARS-CoV-2 provides markedly improved survival and organ protection when administered intranasally. Reducing brain SARS-CoV-2 titers is an important determinant of therapeutic efficacy.

  • Cell death and barrier disruption by clinically used iodine concentrations
    Open Access
    Cell death and barrier disruption by clinically used iodine concentrations

    Anne Steins, Christina Carroll, Fui Jiun Choong, Amee J George, Jin-Shu He, Kate M Parsons, Shouya Feng, Si Ming Man, Cathelijne Kam, Lex M van Loon, Perlita Poh, Rita Ferreira, Graham J Mann, Russell L Gruen, Katherine M Hannan, Ross D Hannan, Klaus-Martin Schulte

    Anne Steins ... Klaus-Martin Schulte

    Published 21 March 2023

    Clinically used concentrations of povidone-iodine (PVP-I) are toxic to eukaryotic cells by attacking the lipid bilayer and tight junctions with fast kinetics and urge the reappraisal of PVP-I use.

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