Publications by authors named "M G Cooper"
Homozygous MTAP deletion occurs in ~15% of cancers, making them vulnerable to decreases in the concentration of S-adenosylmethionine (SAM). AG-270/S095033 is an oral, potent, reversible inhibitor of methionine adenosyltransferase 2 A (MAT2A), the enzyme primarily responsible for the synthesis of SAM. We report results from the first-in-human, phase 1 trial of AG-270/S095033 as monotherapy in patients with advanced malignancies (ClinicalTrials.
View Article and Find Full Text PDFProtein-based stable isotope probing (protein-SIP) can link microbial taxa to substrate assimilation. Traditionally, protein-SIP requires a sample-specific metagenome-derived database for samples with unknown composition. Here, we describe GroEL-prototyping-based stable isotope probing (GroEL-SIP), that uses GroEL as a taxonomic marker protein to identify bacterial taxa (GroEL-proteotyping) coupled to SIP directly linking identified taxa to substrate consumption.
View Article and Find Full Text PDFTranscription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
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- Inborn errors of immunity (IEIs) are genetic disorders that increase the risk of infections, autoimmunity, and other health issues, and often show incomplete penetrance despite being caused by single gene mutations.
- This study examines how autosomal random monoallelic expression (aRMAE)—where only one allele of a gene is actively expressed—contributes to the variability in disease outcomes among individuals within families with IEIs.
- The findings reveal that specific gene expression patterns related to aRMAE can influence clinical phenotypes, suggesting that understanding both genetic and expression variations is crucial for analyzing the impact of monogenic disorders.
Article Synopsis
- The study highlights the significance of introducing iron-rich solid foods in a breastfed infant's diet, revealing that 65.8% of Canadian mothers adhered to this guideline at around 6 months of age.
- Infant cereal was the most common first solid food introduced (66.1%), with rural mothers showing higher adherence.
- Factors affecting adherence included lower odds among mothers from the Western provinces and specific racial and social demographics, indicating a need for increased education and support for diverse populations.