Results 211 to 220 of about 228,960 (304)

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

GABA_A Receptor Trafficking Disruption in Epilepsy: From Assembly to Synaptic Dysfunction. [PDF]

Synapse
Mohammadpour T, Mohammadzadeh R.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Assessing Surface Binding Events on Golgi Microsomes Isolated from Cancer Cells by Capillary Electrophoresis. [PDF]

Anal Chem
Davoine C, Cobraiville G, Pochet L, Fillet M.   +3 more
europepmc   +1 more source

Engineered molecular diagnostic strategies for hepatocellular carcinoma: Integrating flexible photonic barcodes, liquid biopsies, and AI‐enhanced sensing platforms

FlexMat, EarlyView.
Abstract Early diagnosis of hepatocellular carcinoma (HCC) remains challenging because conventional serum biomarkers, especially alpha‐fetoprotein (AFP), show limited sensitivity for early‐stage disease. Recent progress in engineered molecular diagnostics provides new opportunities to improve HCC detection through integrated material, molecular, and ...
Jingzhi Xue, Wanqi Yang, Xiaoyu Liu, Xuehui Chu, Wei Li, Jinglin Wang   +5 more
wiley   +1 more source

A coordinated transcriptional program controls de novo Golgi biogenesis. [PDF]

EMBO J
Forno F, Abete D, Polishchuk EV, Bujanda Cundin X, Renda F, Crispino R, Salzano J, Petruzzelli R, De Cegli R, Sofia M, Sorrentino NC, Vaccaro L, Cacchiarelli D, Verbakel J, De Boer J, Goud B, Khodjakov A, Perez F, Polishchuk RS.   +18 more
europepmc   +1 more source

Crosstalk Between Parkinson's Disease and Colorectal Cancer: Genetic Mechanisms, Gut Microbiota, and Therapeutic Insights

Health Care Science, EarlyView.
This review elucidates the crosstalk between Parkinson's disease and colorectal cancer, driven by shared genetics (PRKN, PINK1, DJ‐1) involving oxidative stress, cell cycle regulation, and inflammation. It identifies the gut microbiota—via functional amyloids and short‐chain fatty acids (SCFAs)—as a mechanistic bridge, offering insights for dual ...
Jiacheng Ying, Zhengyuan Fang, Cheng Zhang, Xu Liu, Jianzhi Cui, Zezhi Li, Jiayin Tang   +6 more
wiley   +1 more source

A multi-omics approach reveals specific oncogenic and inflammatory potential of viral oncoproteins Tax from neglected HTLV-1b and -1c genotypes. [PDF]

PLoS Pathog
Duchateau T, Bongers A, Abdelmoumen K, Rey C, Dussurgey S, Brocard J, Gerardin D, Béziat ML, Lormières F, Bhat D, Guillon C, Gouet P, Afonso PV, Journo C.   +13 more
europepmc   +1 more source

Distinct roles of COPI proteins attenuated in cell senescence. [PDF]

Sci Adv
Mazan-Mamczarz K, Wind EJ, Pal A, Salamini-Montemurri M, Tsitsipatis D, Kim KM, Munk R, Leng J, Shin CH, Martindale JL, Meng Q, Rossi M, Piao Y, Oksanen M, Buchman S, Daugherty B, Fan J, De S, Herman AB, Gorospe M.   +19 more
europepmc   +1 more source