#somatic-mutations
#somatic-mutations

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Polyclonal selection of immune checkpoint mutations in thyroid autoimmunity

Somatic mutations in immune-regulatory genes may allow self-reactive lymphocytes to bypass tolerance checkpoints, contributing to autoimmune disease.

Medicine

fromThe New Yorker

1 week ago

We Are All Constantly Mutating-and That's a Good Thing

Genetic research reveals that our DNA is not a fixed blueprint, as mutations occur throughout our lives.

Science

fromNature

4 months ago

We are all mosaics: vast genetic diversity found between cells in a single person

Single individuals can harbour extensive mosaic genetic variation, including chromosome arm gains or losses, Y-chromosome loss, and diverse DNA deletions or duplications across cells.

fromNature

7 months ago

Single-cell transcriptomic and genomic changes in the ageing human brain - Nature

Bulk RNA-sequencing studies of ageing have revealed disruptions to essential cellular processes such as transcription, translation and growth-factor signalling3, with processes involved in mitochondrial function, neuronal activity and DNA damage being dysregulated in the ageing brain2,4. Cell-type-specific changes during ageing are obscured in bulk analyses and are poorly understood. This represents a major knowledge gap in the human brain, in which molecularly distinct cell types perform specific functions throughout life.