Results 251 to 260 of about 812,203 (315)

Delayed Numerical Chromosome Aberrations in Human Fibroblasts by Low Dose of Radiation. [PDF]

open access: yesInt J Environ Res Public Health, 2015
Cho YH   +5 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones   +6 more
wiley   +1 more source

A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Leanne de Kock   +8 more
wiley   +1 more source

Molecular Profiling and Tumor Microenvironment in Sinonasal Mucosal Melanoma as Biomarkers for Enhanced Prognostic Stratification

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Sinonasal mucosal melanoma (SNMM) is a rare and aggressive melanoma subtype with a notably poor prognosis. Despite molecular characterization advances, SNMM remains clinically challenging, highlighting the need for detailed molecular profiling.
Manuel Molina‐Garcia   +10 more
wiley   +1 more source

Beyond Structure: Methylation Fine‐Tunes Stability and Folding Kinetics of bcl2Mid G‐Quadruplex

open access: yesAngewandte Chemie, EarlyView.
The introduction of a single 5‐methylcytosine into a G‐rich sequence originating from the B‐cell lymphoma 2 (BCL2) gene promoter affects both the folding kinetics and thermodynamics of the two G4 structures and thus plays a crucial role in regulating G4 folding pathways, which has significant implications for the control of gene expression.
Nataša Medved   +5 more
wiley   +2 more sources

High Performance DNA Probes for Perinatal Detection of Numerical Chromosome Aberrations. [PDF]

open access: yesAdv Tech Biol Med, 2015
Lemke KH   +3 more
europepmc   +1 more source

Comparative analysis of short‐term and long‐term LL‐37‐induced rosacea‐like mouse models: Histopathological features and inflammatory immune responses

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The aim of this study was to improve the long‐term LL‐37 mouse model and compare the disease manifestations and pathophysiology of short‐term and long‐term LL‐37‐induced rosacea‐like models. The results show that the long‐term LL‐37 induced mouse model provides a practical animal model for further study of the pathological mechanism of severe rosacea ...
Yiling Wu   +10 more
wiley   +1 more source

Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features

open access: yesAnnals of Neurology, EarlyView.
Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner   +4 more
wiley   +1 more source

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