Results 171 to 180 of about 103,802 (248)

Three‐dimensional observation of the muscle–tendon integration process in mouse embryos

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Muscle–tendon integration is a crucial step in the morphogenesis of the vertebrate locomotion system. As the limb muscle and tendon progenitor cells derive from distinct embryonic origin, their integration requires precise mutual positioning.
Ramu Sagasaki   +10 more
wiley   +1 more source

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

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi   +10 more
wiley   +1 more source

Analyzing Genome Rearrangements in Saccharomyces cerevisiae. [PDF]

open access: yesMethods Mol Biol, 2018
Srivatsan A, Putnam CD, Kolodner RD.
europepmc   +1 more source

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

open access: yesHealth 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   +6 more
wiley   +1 more source

Genome rearrangements and selection in multi-chromosome bacteria Burkholderia spp. [PDF]

open access: yesBMC Genomics, 2018
Bochkareva OO   +3 more
europepmc   +1 more source

Genome rearrangements in bacterial genomes

open access: yes11-ая Международная конференция по биоинформатике регуляции и структуры геномов и системной биологии, 2018
openaire   +1 more source

Sizing and concentration analysis of cfDNA using Biabooster technology: Results from a prospective plasma‐based collection of 77 patients with locally advanced unresectable esophageal cancer

open access: yesInternational Journal of Cancer, EarlyView.
What's New? This study introduces a novel approach for detecting locally advanced esophageal carcinoma using cell‐free DNA (cfDNA) analysis through a highly sensitive fragmentome assay. Unlike traditional sequencing‐based methods that are limited by the absence of specific mutations in esophageal tumors, our method offers an alternative by quantifying ...
Anouchka Modesto   +21 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer   +11 more
wiley   +1 more source

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