Results 101 to 110 of about 5,077 (218)

Mutations in CIC and IDH1 cooperatively regulate 2-hydroxyglutarate levels and cell clonogenicity [PDF]

, 2014
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and mutations of isocitrate dehydrogenase (IDH1-R132H or IDH2-R172K).
Blough, Michael D., Cairncross, J. Gregory, Chan, Jennifer A., Chan, Susanna, Chen, Vincent, Chittaranjan, Suganthi, Firme, Marlo, Go, Nancy E., Gorski, Sharon M., Marra, Marco A., Moradian, Annie, Morin, Gregg B., Song, Jungeun, Yang, Cindy, Yang, Kevin C., Yip, Stephen   +15 more
core   +2 more sources

Cytokeratin and Neuroendocrine Positivity in Cutaneous Small Blue Round Cell Tumor—Is It Always Merkel Cell Carcinoma?

Journal of Cutaneous Pathology, Volume 52, Issue 10, Page 605-610, October 2025.
ABSTRACT We present a case of a 39‐year‐old woman initially diagnosed with Merkel cell carcinoma (MCC), a highly aggressive neuroendocrine carcinoma, due to the presence of cytokeratin and neuroendocrine marker expression. The tumor was dermal based, showing small round blue cells with fine chromatin, scant cytoplasm, and scattered mitotic figures ...
Simon Moubarak, John McAfee, Karen Fritchie, Jennifer S. Ko, Steven D. Billings, Shira Ronen   +5 more
wiley   +1 more source

DUX4 regulates oocyte to embryo transition in human [PDF]

, 2019
In oocyte to embryo transition, the fertilized oocyte undergoes final maturation and the embryo genome is gradually activated during the first three cell divisions. How this transition is coordinated and which factors drive the processes in humans is largely unknown.
Vuoristo, Sanna, Hydén-Granskog, Christel, Yoshihara, Masahito, Bhagat, Shruti, Gawriyski, Lisa, Jouhilahti, Eeva-Mari, Damdimopoulos, Anastassius, Ranga, Vipin, Tamirat, Mahlet, Huhtala, Mikko, Hashimoto, Kosuke, Krjutskov, Kaarel, Recher, Gaëlle, Ezer, Sini, Paluoja, Priit, Paloviita, Pauliina, Takegami, Yujiro, Kanemaru, Ai, Lundin, Karolina, Airenne, Tomi, Otonkoski, Timo, Tapanainen, Juha S, Kawaji, Hideya, Murakawa, Yasuhiro, Bürglin, Thomas R, Varjosalo, Markku, Johnson, Mark S, Tuuri, Timo, Katayama, Shintaro, Kere, Juha   +29 more
openaire   +2 more sources

G-quadruplex ligands mediate downregulation of DUX4 expression

Nucleic Acids Research, 2020
AbstractAbnormal DUX4 expression in skeletal muscles plays a key role in facioscapulohumeral muscular dystrophy (FSHD) pathogenesis, although the molecular mechanisms regulating DUX4 expression are not fully defined. Using bioinformatic analysis of the genomic DUX4 locus, we have identified a number of putative G-quadruplexes (GQs) forming sequences ...
Linda Popplewell, Mark S Searle, George Dickson, Huw E L Williams, Andrew Brennan, Alex Slater, Ngoc Lu-Nguyen, Lukasz Ciszewski   +7 more
openaire   +3 more sources

Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism

Cell Death and Disease, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is among the most common of the muscular dystrophies, affecting nearly 1 in 8000 individuals, and is a cause of profound disability.
Justin Cohen, Shushu Huang, Katherine E. Koczwara, Kristen T. Woods, Vincent Ho, Keryn G. Woodman, Jack L. Arbiser, Katelyn Daman, Monkol Lek, Charles P. Emerson, Alec M. DeSimone   +10 more
doaj   +1 more source

The Good, The Bad, and The Unexpected: Roles of DUX4 in Health and Disease [PDF]

Developmental Cell, 2019
In this issue of Developmental Cell, Chew et al. (2019) show that the pioneer factor DUX4 is misexpressed in tumors, where it suppresses anti-tumor immune activity. Their findings provide a new mechanism for immune evasion in cancer and highlight the pathogenic effects of re-expressing an embryonic program in adult cells.
Peter L. Jones, Charis L. Himeda
openaire   +3 more sources

Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures

Skeletal Muscle, 2017
Background Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle.
Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G. Miller   +3 more
doaj   +1 more source

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity

Skeletal Muscle, 2020
Background All types of facioscapulohumeral muscular dystrophy (FSHD) are caused by the aberrant activation of the somatically silent DUX4 gene, the expression of which initiates a cascade of cellular events ultimately leading to FSHD pathophysiology ...
Takako I. Jones, Guo-Liang Chew, Pamela Barraza-Flores, Spencer Schreier, Monique Ramirez, Ryan D. Wuebbles, Dean J. Burkin, Robert K. Bradley, Peter L. Jones   +8 more
doaj   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1465-1479, July 2025.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA

Cell Reports, 2018
Double homeobox (DUX) transcription factors are unique to eutherian mammals. DUX4 regulates expression of repetitive elements during early embryogenesis, but misexpression of DUX4 causes facioscapulohumeral muscular dystrophy (FSHD) and translocations overexpressing the DUX4 double homeodomain cause B cell leukemia.
John K. Lee, Darko Bosnakovski, Erik A. Toso, Tracy Dinh, Surajit Banerjee, Thomas E. Bohl, Ke Shi, Kayo Orellana, Michael Kyba, Hideki Aihara   +9 more
openaire   +5 more sources