Results 41 to 50 of about 3,991 (155)

Gene-Function-Based Clusters Explore Intricate Networks of Gene Expression of Circulating Tumor Cells in Patients with Colorectal Cancer

open access: yesBiomedicines, 2023
Colorectal cancer (CRC) is a complex disease characterized by dynamically deregulated gene expression and crosstalk between signaling pathways. In this study, a new approach based on gene-function-based clusters was introduced to explore the CRC ...
Chi-Shuan Huang   +2 more
doaj   +1 more source

Detecting Hidden Data in Ext2/Ext3 File Systems [PDF]

open access: yes, 2006
The use of digital forensic tools by law enforcement agencies has made it difficult for malicious individuals to hide potentially incriminating evidence. To combat this situation, the hacker community has developed anti-forensic tools that remove or hide electronic evidence for the specific purpose of undermining forensic investigations.
S. Piper, M. Davis, G. Manes, S. Shenoi
openaire   +1 more source

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

open access: yesClinical Case Reports, 2019
Key Clinical Message We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2
Aditi Gupta   +6 more
doaj   +1 more source

An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

open access: yesFrontiers in Endocrinology, 2022
BackgroundDespite the new next-generation sequencing (NGS) molecular approaches implemented the genetic testing in clinical diagnosis, copy number variation (CNV) detection from NGS data remains difficult mainly in the absence of bioinformatics personnel
Serena Corsini   +5 more
doaj   +1 more source

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

open access: yesScientific Reports, 2013
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of ...
P. Sarrión   +14 more
openaire   +9 more sources

La unión de Candida albicans y Malassezia spp. a células de piel promueve cambios de expresión en los genes responsables de la síntesis de las cadenas de heparán y condroitín sulfato

open access: yesActas Dermo-Sifiliográficas, 2022
Resumen: Las micosis superficiales son patologías prevalentes en dermatología, causadas frecuentemente por hongos oportunistas de los géneros Candida y Malassezia.
H. Ordiales   +6 more
doaj   +1 more source

[Translated article] Adherence of Candida albicans and Malassezia Species to Skin Cells Induces Changes in the Expression of Genes Responsible for Heparan and Chondroitin Sulfate Chain Synthesis

open access: yesActas Dermo-Sifiliográficas, 2022
Superficial fungal infections are common in dermatology and are often caused by opportunistic species in the Candida and Malassezia genera. The aim of this study was to analyze changes in the expression of genes coding for enzymes involved in the ...
H. Ordiales   +6 more
doaj   +1 more source

Integrative Genomic Profiling of Pediatric Solid Tumors Reveals Clinically Relevant Variants and Chromosomal Arm Aneuploidies Signatures

open access: yesCancer Medicine, Volume 15, Issue 3, March 2026.
ABSTRACT Background Pediatric malignancies have emerged as the leading cause of disease‐related mortality in children, exhibiting distinct etiological and molecular characteristics compared to adult cancers. Despite advances in genomic profiling, the molecular landscape of pediatric solid tumors, particularly in Chinese populations, remains ...
Bingxiao Yan   +22 more
wiley   +1 more source

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2) [PDF]

open access: yesEuropean Journal of Medical Genetics, 2019
We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole exome sequencing performed in one of the boys revealed the presence of a novel homozygous missense variant in the EXT2 gene: c.11C > T (p.Ser4Leu ...
El-Bazzal, Lara   +5 more
openaire   +3 more sources

The Tap‐to‐Safety Task: A Novel fMRI Paradigm Assessing Repetitive Threat‐Neutralization

open access: yesHuman Brain Mapping, Volume 47, Issue 3, 15 February 2026.
In this study, we present a novel task to model repetitive threat‐neutralization behavior during neuroimaging. Results suggest that the dorsal anterior cingulate cortex (dACC), anterior insula, and dorsal striatum interact to drive neutralization behavior in the face of perceived threats.
Hannah Berg   +9 more
wiley   +1 more source

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