Results 131 to 140 of about 111,170 (357)

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy

open access: yesMovement Disorders, EarlyView.
Abstract Background Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA/TTTCA repeat expansion in seven distinct genes. TTTTA‐only expansions are benign, whereas those containing TTTCA insertions are pathogenic.
Theresa Kühnel   +12 more
wiley   +1 more source

Neuroprotective Potential of the Flavonoids Quercetin and Epicatechin in a C. elegans Tauopathy Model

open access: yesMolecular Nutrition &Food Research, EarlyView.
Epicatechin and quercetin enhanced healthspan in the C. elegans BR5270 tauopathy model, associated with the upregulation of autophagy‐related and α‐tubulin synthesis genes, and the downregulation of genes involved in the unfolded protein response. ABSTRACT The prevalence of cognitive disorders such as Alzheimer's disease (AD) is increasing due to the ...
Lidia Garzón‐García   +4 more
wiley   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin   +11 more
wiley   +1 more source

Regulation of the MLH1–MLH3 endonuclease in meiosis

open access: yesNature, 2020
E. Cannavó   +13 more
semanticscholar   +1 more source

Atomic Force Microscopy Reveals Differences In Mechanical Properties Linked To Cortical Structure In Mouse And Human Oocytes

open access: yesSmall, EarlyView.
Using Atomic Force Microscopy, the link between oocyte mechanical properties and actin cortex organization is investigated. In mouse oocytes, a thin actin cortex results in stiffer oocytes, while a thicker cortex leads to softer ones. Maternal age affects oocyte mechanics by altering cortex structure.
Rose Bulteau   +9 more
wiley   +1 more source

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