Publications by authors named "M A Gines"
Background: The increase in available disease modifying therapies (DMTs) for multiple sclerosis has led to greater emphasis on improving treatment sequencing paradigms. This article summarises the opinions from a panel of 25 experts on treatment switching approaches in relapsing multiple sclerosis (RMS).
Methods: A modified Delphi consensus process was carried out to develop clinically relevant statements for aiding treatment decisions in patients with RMS between the 16 January and the 9 October 2019.
A Robust Protocol for Investigating the Cohesin Complex by ChIP-Sequencing.
Methods Mol Biol
March 2022
The investigation of cohesin binding sites throughout different mammalian genomes by ChIP-sequencing has been fundamental to discover how cohesin and CTCF collaborate to form chromatin loops and to gain insight in the intricate regulation of cohesin. Here we describe a detailed ChIP protocol that has been successfully used for different cohesin subunits and cohesin regulators in various cell lines.
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- - The study focuses on the NIPBL/MAU2 complex, which is crucial for loading cohesin onto chromatin, and how mutations in NIPBL are linked to Cornelia de Lange syndrome (CdLS).
- - A specific MAU2 variant causing CdLS was identified, which disrupts its interaction with NIPBL, yet other findings showed that cell lines can function normally despite having this mutation.
- - The research indicates that cohesin loading can occur without the typical NIPBL/MAU2 interaction, suggesting an alternative mechanism that may help protect against serious genetic mutations and could inform understanding of various genetic disorders.
Seizure control is challenging in the palliative care setting. Subcutaneous (SC) levetiracetam (LEV) is currently an off-label route of administration and effectiveness, tolerability, and pharmacokinetics studies for this route are scarce. This prospective study aimed at evaluating effectiveness and tolerability of SC LEV as well as characterizing its pharmacokinetics.
View Article and Find Full Text PDFBackground: Primary care is the ideal setting for early identification of patients with non-alcoholic fatty liver disease (NAFLD). NAFLD is a potentially progressive disease that may lead to cirrhosis and liver cancer but is frequently underrecognized because subjects at risk are often not evaluated. Controlled attenuation parameter (CAP) is a reliable method for non-invasive quantification of liver fat.
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