Results 81 to 90 of about 5,077 (218)

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy [PDF]

, 2022
Facioscapulohumeral dystrophy (FSHD) is a skeletal muscle disease caused by the aberrant expression of the DUX4 gene in the muscle tissue. To date, different therapeutic approaches have been proposed, targeting DUX4 at the DNA, RNA or protein levels. The
Dumonceaux, Julie, Mariot, Virginie
core   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

DUX4 expression activates JNK and p38 MAP kinases in myoblasts

Disease Models & Mechanisms, 2022
ABSTRACT Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of the DUX4 transcription factor in skeletal muscle that results in transcriptional alterations, abnormal phenotypes and cell death. To gain insight into the kinetics of DUX4-induced stresses, we activated DUX4 expression in myoblasts and performed ...
Christopher M. Brennan, Abby S. Hill, Michael St. Andre, Xianfeng Li, Vijaya Madeti, Susanne Breitkopf, Seth Garren, Liang Xue, Tamara Gilbert, Angela Hadjipanayis, Mara Monetti, Charles P. Emerson, Robert Moccia, Jane Owens, Nicolas Christoforou   +14 more
openaire   +4 more sources

Nuclear DUX4 immunohistochemistry is a highly sensitive and specific marker for the presence of CIC::DUX4 fusion in CIC-rearranged sarcomas: a study of 48 molecularly confirmed cases. [PDF]

Histopathology
Macedo RT, Baranovska-Andrigo V, Pancsa T, Klubíčková N, Rubin BP, Kilpatrick SE, Goldblum JR, Fritchie KJ, Billings SD, Michal M, Švajdler M, Kinkor Z, Michal M, Dermawan JK.   +13 more
europepmc   +2 more sources

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
core   +2 more sources

RanBALL: An Ensemble Machine Learning Framework for Accurate Subtype Identification of Pediatric B‐Cell Acute Lymphoblastic Leukemia

Advanced Intelligent Systems, EarlyView.
Here, we present RanBALL, an ensemble random projection‐based model for accurate and cost‐effective identification of B‐cell acute lymphoblastic leukemia subtypes is presented. By preserving patient‐to‐patient distance after dimension reduction by random projection and ensemble learning, RanBALL can facilitate the discovery of B‐ALL subtype‐specific ...
Lusheng Li, Hanyu Xiao, Xinchao Wu, Zhenya Tang, Joseph D. Khoury, Jieqiong Wang, Shibiao Wan   +6 more
wiley   +1 more source

Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models

Disease Models & Mechanisms, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of DUX4 in skeletal myocytes. As DUX4 is the key therapeutic target in FSHD, surrogate biomarkers of DUX4 expression in skeletal muscle are critically needed for clinical trials ...
Andreia M. Nunes, Monique Ramirez, Takako I. Jones, Peter L. Jones   +3 more
doaj   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype [PDF]

, 2017
Fusion genes involving ZNF384 have recently been identified in B-cell precursor acute lymphoblastic leukemia, and 7 fusion partners have been reported. We further characterized this type of fusion gene by whole transcriptome sequencing and/or polymerase ...
Fujimura Junya, Fukushima Takashi, Hata Kenichiro, Hino Moeko, Hirabayashi Shinsuke, Ichikawa Hitoshi, Kajiwara Ryosuke, Kakuda Harumi, Kato Keisuke, Kato Motohiro, Kinoshita Akitoshi, Kiyokawa Nobutaka, Koh Katsuyoshi, Kubo Michiaki, Kurosawa Hidemitsu, Manabe Atsushi, Matsubara Yoichi, Matsuda Koich, Matsumoto Kenji, Momozawa Yukihide, Morimoto Tsuyoshi, Moriwaki Koichi, Nakabayashi Kazuhiko, Nakamura Kozue, Noguchi Yasushi, Ogata-Kawata Hiroko, Ohara Akira, Ohki Kentaro, Okamura Kohji, Osumi Tomoo, Saito Yuya, Sakamoto Hiromi, Sakashita Kazuo, Takita Junko, Terada Kazuki, Yaguchi Akinori, Yoshida Teruhiko, Yoshimi Ai, Yuza Yuki, 福島 敬   +39 more
core   +1 more source

A characteristic gene expression profile regulated by ACIN1::NUTM1 fusion in a newly identified infant leukaemic cell line and an ACIN1::NUTM1‐inducible model

British Journal of Haematology, EarlyView.
An ACIN1::NUTM1‐positive ALL cell line, KOPN32, which was previously established from a relapsed infant‐ALL case, was newly identified. Comparison using 94 BCP‐ALL cell lines, an ACIN1::NUTM1‐inducible ALL model and clinical sample data revealed upregulation of HOXA9, HOXA10, SKIDA1 and BMI1, indicating direct involvement of ACIN1::NUTM1 fusion in the ...
Minori Tamai, Chiaki Komatsu, Keiko Kagami, Shin Kasai, Atsushi Watanabe, Koshi Akahane, Kumiko Goi, Chihiro Tomoyasu, Toshihiko Imamura, Satoshi Oguri, Sumio Iwasaki, Takanori Teshima, Yasushi Yatabe, Takeshi Inukai   +13 more
wiley   +1 more source