Mitochondrial genetics through the lens of single-cell multi-omics

L Nitsch, CA Lareau, LS Ludwig - Nature genetics, 2024 - nature.com
Mitochondria carry their own genetic information encoding for a subset of protein-coding
genes and translational machinery essential for cellular respiration and metabolism. Despite …

Recent advances in targeted therapies in acute myeloid leukemia

RS Bhansali, KW Pratz, C Lai - Journal of Hematology & Oncology, 2023 - Springer
Acute myeloid leukemia (AML) is the most common acute leukemia in adults. While survival
for younger patients over the last several decades has improved nearly sixfold with the …

Familial clonal hematopoiesis in a long telomere syndrome

EA DeBoy, MG Tassia, KE Schratz… - … England Journal of …, 2023 - Mass Medical Soc
Background Telomere shortening is a well-characterized cellular aging mechanism, and
short telomere syndromes cause age-related disease. However, whether long telomere …

Life histories of myeloproliferative neoplasms inferred from phylogenies

N Williams, J Lee, E Mitchell, L Moore, EJ Baxter… - Nature, 2022 - nature.com
Mutations in cancer-associated genes drive tumour outgrowth, but our knowledge of the
timing of driver mutations and subsequent clonal dynamics is limited,–. Here, using whole …

The longitudinal dynamics and natural history of clonal haematopoiesis

MA Fabre, JG de Almeida, E Fiorillo, E Mitchell… - Nature, 2022 - nature.com
Clonal expansions driven by somatic mutations become pervasive across human tissues
with age, including in the haematopoietic system, where the phenomenon is termed clonal …

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

SN Stacey, F Zink, GH Halldorsson, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …

[HTML][HTML] Mapping single-cell transcriptomes in the intra-tumoral and associated territories of kidney cancer

R Li, JR Ferdinand, KW Loudon, GS Bowyer, S Laidlaw… - Cancer Cell, 2022 - cell.com
Tumor behavior is intricately dependent on the oncogenic properties of cancer cells and
their multi-cellular interactions. To understand these dependencies within the wider …

Clonal haematopoiesis and dysregulation of the immune system

R Belizaire, WJ Wong, ML Robinette… - Nature Reviews …, 2023 - nature.com
Age-related diseases are frequently linked to pathological immune dysfunction, including
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …

Rare coding variant analysis for human diseases across biobanks and ancestries

SJ Jurgens, X Wang, SH Choi, LC Weng, S Koyama… - Nature Genetics, 2024 - nature.com
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …

Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging

NA Jakobsen, S Turkalj, AGX Zeng, B Stoilova… - Cell Stem Cell, 2024 - cell.com
Clonal hematopoiesis (CH) arises when hematopoietic stem cells (HSCs) acquire mutations,
most frequently in the DNMT3A and TET2 genes, conferring a competitive advantage …