Results 81 to 90 of about 5,232 (224)

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

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

Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]

, 2019
We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C, Fernandez, Karen S, Hardee, Steven, Horvai, Andrew, Shah, Avanthi Tayi, Sweet-Cordero, E Alejandro, Turski, Michelle L   +6 more
core  

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 feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

eLife, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy caused by inefficient epigenetic repression of the D4Z4 macrosatellite array and somatic expression of the DUX4 retrogene.
Qing Feng, Lauren Snider, Sujatha Jagannathan, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott, Robert K Bradley   +6 more
doaj   +1 more source

Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. [PDF]

PLoS ONE, 2015
The DUX4 gene, encoded within D4Z4 repeats on human chromosome 4q35, has recently emerged as a key factor in the pathogenic mechanisms underlying Facioscapulohumeral muscular dystrophy (FSHD).
Eugénie Ansseau, Jacqueline S Domire, Lindsay M Wallace, Jocelyn O Eidahl, Susan M Guckes, Carlee R Giesige, Nettie K Pyne, Alexandra Belayew, Scott Q Harper   +8 more
doaj   +1 more source

Joint single-cell DNA accessibility and protein epitope profiling reveals environmental regulation of epigenomic heterogeneity. [PDF]

, 2018
Here we introduce Protein-indexed Assay of Transposase Accessible Chromatin with sequencing (Pi-ATAC) that combines single-cell chromatin and proteomic profiling. In conjunction with DNA transposition, the levels of multiple cell surface or intracellular
Chang, Howard Y, Chen, Xingqi, Choudhry, Hani, Giaccia, Amato J, Greenleaf, William J, LaGory, Edward L, Litzenburger, Ulrike M, Schep, Alicia N, Wei, Yuning   +8 more
core   +2 more sources

Comparative Analysis of a Dual DNA–RNA Panel and a DNA‐Only Panel for Sarcoma: Real‐World Data From a Nationwide Genomic Database

Cancer Science, Volume 117, Issue 1, Page 156-168, January 2026.
Dual DNA–RNA panel with matched tumor–normal testing may improve diagnostic accuracy and inform treatment decisions in the routine clinical management of sarcoma. ABSTRACT Next‐generation sequencing‐based comprehensive cancer genomic profiling is promising in cancer management; however, most studies rely on tumor‐only DNA panels from single ...
Eiji Nakata, Kiichiro Ninomiya, Tatsunori Osone, Daisuke Ennishi, Shuta Tomida, Tomohiro Fujiwara, Toshiyuki Kunisada, Mashu Futagawa, Akira Hirasawa, Shinichi Toyooka, Toshifumi Ozaki   +10 more
wiley   +1 more source

Co‐Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature

European Journal of Neurology, Volume 33, Issue 1, January 2026.
ABSTRACT Background Facioscapulohumeral dystrophy (FSHD) and Myasthenia Gravis (MG) are well‐known rare neuromuscular diseases of respectively genetic and acquired origin. Among muscular dystrophies, the co‐occurrence of MG with FSHD is the most common, representing a non‐negligible “double trouble”.
Giulia Tammam, Luisa Villa, Richard J. L. F. Lemmers, Jonathan Pini, Abderhmane Slioui, Laura Bouchareychas, Yann David, Mihai‐Bogdan Ioncea, Leonardo Salviati, Michele Cavalli, Andra Ezaru, Angela Puma, Jan J. Verschuuren, Silvère M. van der Maarel, Sabrina Sacconi   +14 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