Results 101 to 110 of about 5,232 (224)
Somatic chromosomal translocation between Ewsr1 and Fli1 loci leads to dilated cardiomyopathy in a mouse model [PDF]
A mouse model that recapitulates the human Ewing's sarcoma-specific chromosomal translocation was generated utilizing the Cre/loxP-mediated recombination technique.
Jay, Patrick Y +8 more
core +2 more sources
IGH clonality analysis by RNA sequencing revealed distinct prognostic groups in pediatric BCP‐ALL. Our results demonstrate the value of sequencing‐based IGH profiling to enhance relapse risk assessment and guide precision monitoring strategies. ABSTRACT Introduction Recent advancements in risk stratification have greatly improved outcomes in pediatric ...
Yuta Katai +11 more
wiley +1 more source
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia
Abstract Advancements in the rapidity, cost efficacy, and sensitivity of next‐generation sequencing (NGS) have facilitated molecular risk stratification and precision medicine‐based treatment for pediatric leukemia. The benefit of uniform cytomolecular analyses for clinical trial risk assignment is clear.
Haley Newman +28 more
wiley +1 more source
Functional Myogenic Engraftment from Mouse iPS Cells [PDF]
Direct reprogramming of adult fibroblasts to a pluripotent state has opened new possibilities for the generation of patient- and disease-specific stem cells.
Radbod Darabi +48 more
core +1 more source
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 +13 more
wiley +1 more source
WEE1 kinase is a therapeutic vulnerability in CIC-DUX4 undifferentiated sarcoma
CIC-DUX4 rearrangements define an aggressive and chemotherapy-insensitive subset of undifferentiated sarcomas. The CIC-DUX4 fusion drives oncogenesis through direct transcriptional upregulation of cell cycle and DNA replication genes.
Rovingaile Kriska M. Ponce +4 more
doaj +1 more source
Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells. [PDF]
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
MyomiRs Expression in Limb Girdle Muscular Dystrophy
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri +7 more
wiley +1 more source
Cellular and animal models for facioscapulohumeral muscular dystrophy
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 +3 more
doaj +1 more source
A case report of CIC–DUX4 fusion-positive sarcoma in the pelvic cavity with targeted next-generation sequencing results [PDF]
Qian Wu, Ying He
openalex +1 more source

