Results 141 to 150 of about 67,701 (309)

AKT, ATR, and Notch Inhibitors Radiosensitize a Preclinical Model of Adenoid Cystic Carcinoma

open access: yesHead &Neck, EarlyView.
ABSTRACT Background Adenoid Cystic Carcinoma (ACC) is a rare and lethal type of head and neck cancer. Standard therapy involves surgery followed by radiation therapy. The majority of ACC has MYB overexpression and MYB‐NFIB gene fusions, while Notch mutations are associated with aggressive behavior.
Shivani Thoidingjam   +10 more
wiley   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

open access: yesInternational Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin   +9 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer   +11 more
wiley   +1 more source

DNA Methylation and Transcriptomic Profiles of Wilms Tumour Reveal New Deregulated Genes and Epigenetic Processes Relevant for Tumour Stratification and Management

open access: yesInternational Journal of Cancer, EarlyView.
ABSTRACT Wilms Tumour (WT), the most common kidney cancer in children, presents features of altered kidney development and frequently exhibits molecular alterations at the 11p15.5 imprinted locus, affecting the IGF2 and H19 genes, which contribute to tumour growth and predisposition.
Abu Saadat   +14 more
wiley   +1 more source

Minimally Invasive Sampling for Molecular Profiling of Lymph Nodes Using a Modified Acupuncture Needle

open access: yesiMetaMed, EarlyView.
Schematic illustration of the preparation of His@PDA@Needle, a modified acupuncture needle designed for minimally invasive sampling of lymph node‐derived DNA for molecular profiling. ABSTRACT Current clinical liquid biopsy approaches predominantly rely on blood‐derived biomarkers, which are often limited in sensitivity.
Baiping Cui   +5 more
wiley   +1 more source

Metabolic feature profiling and metabolic vulnerability in acute lymphoblastic leukemia

open access: yesInterdisciplinary Medicine, EarlyView.
For the first time, our study develops a novel metabolic classification and subtyping program, metabolic reprogramming‐based classifier for acute lymphoblastic leukemia, using internal PDT‐ALL‐2016 and external cohorts, which dissects metabolic profiling, clinical outcome, and therapeutic vulnerability for precision metabolic intervention in ALL ...
Xiaojie Liang   +13 more
wiley   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee   +8 more
wiley   +1 more source

Reference TR-CNV variants for TR-CNV evaluation

open access: yes
The files, sim_TR_DEL.chr1.vcf.gz, sim_TR_INS.chr1.vcf.gz, and sim_non-TR-INS.chr1.vcf.gz contain ~1,000 simulated TR-DEL, TR-INS, and non-TR-INS variants used to evaluate TR-CNV detection tools in our paper, respectively. The variants for each TR-CNV type were introduced into existing TR sites on diploid chromosome 1 of the human GRCh38 reference ...
openaire   +2 more sources

Comparison of Cranial Ultrasound and Amplitude‐Integrated Electroencephalography in Predicting Neurodevelopmental Outcomes in Neonates With Hypoxic–Ischemic Encephalopathy: A Systematic Review and Meta‐Analysis

open access: yesJournal of Clinical Ultrasound, EarlyView.
In neonates with hypoxic–ischemic encephalopathy (HIE), adverse neurodevelopmental outcomes (NDO) remain common. Amplitude‐integrated EEG demonstrates strong prognostic value for early prediction, while cranial ultrasound (cUS) provides complementary but less definitive information.
Meirong Shu   +6 more
wiley   +1 more source

Analysis of the etiology, clinical characteristics and treatment outcomes of choroidal neovascularization in Chinese children and adolescents

open access: yesBMC Ophthalmology
Background This study aimed to investigate the etiology, clinical characteristics and treatment outcomes of choroidal neovascularization (CNV) in Chinese children and adolescents.
Shenshen Yan   +5 more
doaj   +1 more source

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