Results 151 to 160 of about 41,259 (301)

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Remethylation of Dnmt3a−/− hematopoietic cells is associated with partial correction of gene dysregulation and reduced myeloid skewing [PDF]

open access: yes, 2020
Bangert, Celia V.   +17 more
core   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

open access: yesAdvanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Tumor‐educated platelets in cancer diagnostics and prognostics: A critical appraisal and roadmap for clinical translation

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Tumor‐educated platelets (TEPs) are emerging as a compelling frontier in liquid biopsy, functioning as dynamic, systemic sensors that sequester and process tumor‐derived biomolecules. This interaction imprints an integrated molecular signature of malignancy—spanning the transcriptome, proteome, lipidome, and crucially, the captured genome ...
Whi‐An Kwon   +5 more
wiley   +1 more source

ULK4 and CDKN2A polymorphisms influence the risk of developing monoclonal gammopathy of undetermined significance

open access: yesInternational Journal of Cancer, EarlyView.
What's New? Monoclonal gammopathy of undetermined significance (MGUS) is an asymptomatic precursor to multiple myeloma, sharing substantial genetic features with overt malignancy. Given evidence implicating autophagy in myeloma risk, this study examined whether genetic variations in autophagy‐related genes influence MGUS susceptibility.
José Manuel Sánchez‐Maldonado   +54 more
wiley   +1 more source

Clonal hematopoiesis JAKs up plaque formation

open access: yesThe Journal of Clinical Investigation
Clonal hematopoiesis (CH) is a condition in which hematopoietic stem cells (HSCs) acquire mutations seen in leukemia. While individuals with CH generally do not show signs of hematologic disease, the condition becomes more common with age and correlates ...
Koral Campbell, Qing Li
doaj   +1 more source

The Growth Supporting Role of ZDHHC11 Is Linked to the MEF2B–BCL6 Regulatory Circuit in Burkitt Lymphoma

open access: yesInternational Journal of Cancer, EarlyView.
MEF2B and BCL6 have established functions in germinal center B‐cell biology and lymphomagenesis. The mechanism of MEF2B deregulation and its significance for cell survival in Burkitt lymphoma however remain unclear. This study highlights MEF2B as a crucial transcription factor in Burkitt lymphoma and suggests ZDHHC11 as an upstream regulator of MEF2B ...
Lotteke J. Y. M. Ziel‐Swier   +12 more
wiley   +1 more source

Clinical and Radiometabolic Correlatives of ddPCR Liquid Biopsy for BRAF V600 Mutated Melanoma

open access: yesInternational Journal of Cancer, EarlyView.
Commercial circulating tumor DNA (ctDNA) liquid biopsy tests are increasingly used for disease monitoring and surveillance in melanoma. However, data regarding the possible correlations between ctDNA and baseline clinical and radiometabolic parameters such as metastatic locations, tumor volume, and tumor glycolysis in patients with BRAF‐mutated ...
Ronen Stoff   +8 more
wiley   +1 more source

DP016 | PREDICTING MYELOID NEOPLASMS IN CLONAL HEMATOPOIESIS: VALIDATION OF THE CHRS SCORE IN A POPULATION-BASED COHORT

open access: yesHaematologica
The identification of premalignant conditions and their progression risks is a major focus in hematology. Clonal hematopoiesis (CH), including clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of undetermined significance (CCUS)
A. Buizza   +21 more
doaj  

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