Basilar-type migraine (BM) and hemiplegic migraine are clinically distinct subtypes of migraine with aura, however they do share clinical features and it is possible they may share genetic bases. In recent years, ATP1A2 and other gene mutations have been discovered in familial and sporadic hemiplegic migraine. More recently, an ATP1A2 mutation has been identified in an Italian family with BM. In this study we document the absence of ATP1A2 mutations in two Italian sisters with menstrual BM, suggesting that other genes are involved in the condition.
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http://dx.doi.org/10.1007/s10072-008-0870-0 | DOI Listing |
Genes Brain Behav
February 2025
Laboratory of Addiction Genetics, Department of Pharmaceutical Sciences and Center for Drug Discovery, Northeastern University, Boston, Massachusetts, USA.
Opioid use disorder is heritable, yet its genetic etiology is largely unknown. C57BL/6J and C57BL/6NJ mouse substrains exhibit phenotypic diversity in the context of limited genetic diversity which together can facilitate genetic discovery. Here, we found C57BL/6NJ mice were less sensitive to oxycodone (OXY)-induced locomotor activation versus C57BL/6J mice in a conditioned place preference paradigm.
View Article and Find Full Text PDFCephalalgia
January 2025
Department of Biomedicine, Health Aarhus University, Aarhus, Denmark.
Background: Familial hemiplegic migraine (FHM) types 1-3 are associated with protein-altering genetic variants in , and , respectively. These genes have also been linked to epilepsy. Previous studies primarily focused on phenotypes, examining genetic variants in individuals with characteristic FHM symptoms.
View Article and Find Full Text PDFBrain Commun
December 2024
Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Familial hemiplegic migraine type 2 results from pathogenic variants in the gene, which encodes for a catalytic subunit of sodium/potassium ATPase. This extremely rare autosomal dominant disorder manifests with a spectrum of symptoms, most commonly pure hemiplegic phenotype, epilepsy, and/or intellectual disability. In this study, we detail the clinical features and genetic analysis of nine patients from a large family spanning four generations, with all carrying a previously unreported likely pathogenic variant, p.
View Article and Find Full Text PDFCell Mol Biol (Noisy-le-grand)
November 2024
Department of Photo Healing and Regeneration, Medical Laser Research Center, Yara Institute, Academic Center for Education, Culture, and Research(ACECR), Tehran, Iran.
Breast cancer (BC) is a global health concern with a growing prevalence. Since BC is a heterogeneous cancer, transcriptome analyzes were carried out on breast tumor tissues relative to their corresponding normal tissues in order to identify gene expression signatures and perform meta-analysis. Five expression profiling by array data sets from breast tumor tissues and non-tumor neighboring tissues were retrieved following a search in the GEO database (GSE70947, GSE70905, GSE10780, GSE29044, and GSE42568).
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Unité Organisation Nucléaire et Oncogenèse, INSERM U993, Institut Pasteur, Université Paris Cité, 75015 Paris, France.
Hepatoblastoma is the most common primary liver malignancy in children, with metabolic reprogramming playing a critical role in its progression due to the liver's intrinsic metabolic functions. Enhanced glycolysis, glutaminolysis, and fatty acid synthesis have been implicated in hepatoblastoma cell proliferation and survival. In this study, we screened for altered overexpression of metabolic enzymes in hepatoblastoma tumors at tissue and single-cell levels, establishing and validating a hepatoblastoma tumor expression metabolic score using machine learning.
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