Results 161 to 170 of about 923,115 (353)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia 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   +3 more
wiley   +1 more source

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia   +21 more
wiley   +1 more source

ASPM Induces Radiotherapy Resistance by Disrupting Microtubule Stability Leading to Chromosome Malsegregation in Non‐Small Cell Lung Cancer

open access: yesExploration, EarlyView.
Abnormal spindle‐like microcephaly‐associated protein helps radiotherapy resistant cells to evade spindle checkpoint surveillance and complete cell division after irradiation through destruction of microtubule stability, with subsequent increases in chromosome mis‐segregation and deteriorating chromosomal stability during mitosis to promote ...
Tao Zhong   +13 more
wiley   +1 more source

Deregulated enhancer‐promoter communication in cancer through altered nuclear architecture

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Enhancers are critical regulators of gene expression. Structural variations in cancer genomes can lead to enhancer hijacking, where oncogenes are activated by mistargeted enhancer activity. Novel enhancer‐promoter interactions may also arise through chromosomal rearrangements that create extrachromosomal DNA elements.
Isabelle Seufert   +3 more
wiley   +1 more source

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