Results 111 to 120 of about 5,077 (218)

Ex vivo drug responses and molecular profiles of 597 pediatric acute lymphoblastic leukemia patients

HemaSphere, Volume 9, Issue 7, July 2025.
Abstract Ex vivo drug response profiling is emerging as a valuable tool for identifying drug resistance mechanisms and advancing precision medicine in hematological cancers. However, the functional impact of dysregulation of the epigenome and transcriptome in this context remains poorly understood.
Anna Pia Enblad, Olga Krali, Henrik Gezelius, Anders Lundmark, Kristin Blom, Claes Andersson, Josefine Palle, Britt‐Marie Frost, Samppa Ryhänen, Trond Flægstad, Ólafur G. Jónsson, Kjeld Schmiegelow, Mats Heyman, Arja Harila, Peter Nygren, Rolf Larsson, Gudmar Lönnerholm, Jessica Nordlund   +17 more
wiley   +1 more source

Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells. [PDF]

PLoS ONE, 2016
We looked at a disease-associated macrosatellite array D4Z4 and focused on epigenetic factors influencing its chromatin state outside of the disease-context.
Sunny Das, Brian P Chadwick
doaj   +1 more source

Real‐World Data Analysis of Genomic Alterations Detected by a Dual DNA–RNA Comprehensive Genomic Profiling Test

Cancer Science, Volume 116, Issue 7, Page 1984-1995, July 2025.
This study analyzed 1356 cases using GenMineTOP, Japan's first dual DNA–RNA CGP test, and identified oncogenic alterations in 91.5% of cases. The RNA panel detected 105 fusion events, including 11 NTRK fusions. Furthermore, the analysis clarified the independent effects of genomic abnormalities and cancer type on RNA expression, providing valuable ...
Kousuke Watanabe, Miho Ogawa, Aya Shinozaki‐Ushiku, Shuichi Tsutsumi, Kenji Tatsuno, Hiroyuki Aburatani, Hidenori Kage, Katsutoshi Oda   +7 more
wiley   +1 more source

Genetic Associations of Clonal Hematopoiesis With Cardioembolic Stroke: Insights From Genome‐Wide Mendelian Randomization, Bulk RNA, Single‐Cell RNA Sequencing

CNS Neuroscience &Therapeutics, Volume 31, Issue 7, July 2025.
Our findings reveal a causal effect of large clone clonal hematopoiesis (CH) on cardioembolic stroke (CES). PARP1 and CD3G were identified as key genes linking CH to CES. Using 113 machine learning algorithm combinations, we pinpointed 14 feature genes that played critical roles in the pathway from CH to CES, a finding further validated by eQTL, pQTL ...
Haozhou Tan, Feng Zhu, Han Yan, Fangfang Li, Yang Yao, Ying Li, Qian Feng   +6 more
wiley   +1 more source

Cellular and animal models for facioscapulohumeral muscular dystrophy

Disease Models & Mechanisms, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound
Alec M. DeSimone, Justin Cohen, Monkol Lek, Angela Lek   +3 more
doaj   +1 more source

High Frequency Hearing Loss and Hyperactivity in DUX4 Transgenic Mice

PLOS ONE, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is caused by mutations leading to ectopic expression of the transcription factor DUX4, and encompasses both muscle-related and non-muscle phenotypes. Mouse models bearing this gene represent valuable tools to investigate which pathologies are due to DUX4 expression, and how DUX4 leads to these pathologies ...
Dandapat A, Perrin BJ, Cabelka C, Razzoli M, Ervasti JM, Bartolomucci A, Lowe DA, Kyba M   +7 more
openaire   +6 more sources

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work‐Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping

American Journal of Hematology, Volume 100, Issue 6, Page 1029-1048, June 2025.
ABSTRACT The latest updates to the classification of hematolymphoid malignancies using the World Health Organization (WHO, 5th ed.) and ICC (International Consensus Classification) criteria highlight the critical need for comprehensive and precise cytogenomic data for diagnosis, prognostication, and treatment.
Rashmi Kanagal‐Shamanna, Anna Puiggros, Isabel Granada, Gordana Raca, Katrina Rack, Mar Mallo, Barbara Dewaele, Adam C. Smith, Yassmine Akkari, Brynn Levy, Robert P. Hasserjian, Adela Cisneros, Marta Salido, Guillermo Garcia‐Manero, Hui Yang, M. Anwar Iqbal, Ravindra Kolhe, Francesc Solé, Blanca Espinet   +18 more
wiley   +1 more source

Fibroblast cell line with inducible cassette exchange system- tool to study gain and loss of gene function [PDF]

, 2012
We generated fibroblast cell line with single copy of targeting Cre/Lox cassette exchange. The cassette is targeted with circular plasmid P2lox/cre caring the gene of interest.
Bosnakovski, Darko
core  

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy

eLife, 2019
DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). DUX4’s transcriptional activity has been extensively characterized, but the DUX4-induced proteome remains undescribed.
Sujatha Jagannathan, Yuko Ogata, Philip R Gafken, Stephen J Tapscott, Robert K Bradley   +4 more
doaj   +1 more source