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Genomics yields biological and phenotypic insights into bipolar disorder.
Nature
January 2025
Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.
View Article and Find Full Text PDFDNA methylation analysis from oral brushing reveals a field cancerization effect in proliferative verrucous leukoplakia.
Pathologica
December 2024
Functional and Molecular Neuroimaging Unit, Bellaria Hospital, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Objectives: The aim of the present study was to analyze the methylation status in patients who presented with an Oral Squamous Cell Carcinoma (OSCC) concomitantly with multifocal Proliferative Verrucous Leukoplakia (PVL)(PVL-OSCC).
Methods: Nine patients with OSCC and concomitant PVL lesions were selected. Two brushing samples were collected simultaneously from OSCC and PVL lesions in contralateral mucosa from each patient.
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
Neurogenetics
December 2024
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism.
View Article and Find Full Text PDFPrognostic factors and impact of management strategies for status epilepticus: The STEPPER study in the Emilia-Romagna region, Italy.
Epilepsia
December 2024
IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of the European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.
Objective: The STEPPER (Status Epilepticus in Emilia-Romagna) study aimed to investigate the clinical characteristics, prognostic factors, and treatment approaches of status epilepticus (SE) in adults of the Emilia-Romagna region (ERR), Northern Italy.
Methods: STEPPER, an observational, prospective, multicentric cohort study, was conducted across neurology units, emergency departments, and intensive care units of the ERR over 24 months (October 2019-October 2021), encompassing incident cases of SE. Patients were followed up for 30 days.
Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.
Biomolecules
November 2024
Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Article Synopsis
- Collagen VI, made of three chains encoded by specific genes, is crucial for the extracellular matrix and its defects are linked to muscular diseases like Ullrich congenital muscular dystrophy (UCMD).
- A CRISPR genome editing strategy was developed to specifically target a harmful deletion in the collagen VI gene, achieving 32% editing efficiency and restoring the protein's secretion in patient fibroblasts.
- The edited fibroblasts not only improved collagen VI levels but also positively impacted cell interactions, suggesting that CRISPR can effectively address genetic mutations in UCMD.
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