Clonal haematopoiesis and dysregulation of the immune system
Age-related diseases are frequently linked to pathological immune dysfunction, including
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …
Clonal hematopoiesis of indeterminate potential (CHIP): Linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease
Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of a clonally
expanded hematopoietic stem cell caused by a leukemogenic mutation in individuals …
expanded hematopoietic stem cell caused by a leukemogenic mutation in individuals …
Prediction of risk for myeloid malignancy in clonal hematopoiesis
Background Clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of
undetermined significance (CCUS) are defined by somatic mutations in genes associated …
undetermined significance (CCUS) are defined by somatic mutations in genes associated …
Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution
A Rodriguez-Meira, R Norfo, S Wen, AL Chédeville… - Nature …, 2023 - nature.com
Understanding the genetic and nongenetic determinants of tumor protein 53 (TP53)-
mutation-driven clonal evolution and subsequent transformation is a crucial step toward the …
mutation-driven clonal evolution and subsequent transformation is a crucial step toward the …
Distinction of lymphoid and myeloid clonal hematopoiesis
Clonal hematopoiesis (CH) results from somatic genomic alterations that drive clonal
expansion of blood cells. Somatic gene mutations associated with hematologic …
expansion of blood cells. Somatic gene mutations associated with hematologic …
Multiparameter prediction of myeloid neoplasia risk
M Gu, SC Kovilakam, WG Dunn, L Marando… - Nature …, 2023 - nature.com
The myeloid neoplasms encompass acute myeloid leukemia, myelodysplastic syndromes
and myeloproliferative neoplasms. Most cases arise from the shared ancestor of clonal …
and myeloproliferative neoplasms. Most cases arise from the shared ancestor of clonal …
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
Age is the dominant risk factor for infectious diseases, but the mechanisms linking age to
infectious disease risk are incompletely understood. Age-related mosaic chromosomal …
infectious disease risk are incompletely understood. Age-related mosaic chromosomal …
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
Many human proteins contain domains that vary in size or copy number because of variable
numbers of tandem repeats (VNTRs) in protein-coding exons. However, the relationships of …
numbers of tandem repeats (VNTRs) in protein-coding exons. However, the relationships of …
Fumarate hydratase (FH) and cancer: a paradigm of oncometabolism
L Valcarcel-Jimenez, C Frezza - British Journal of Cancer, 2023 - nature.com
Fumarate hydratase (FH) is an enzyme of the Tricarboxylic Acid (TCA) cycle whose
mutations lead to hereditary and sporadic forms of cancer. Although more than twenty years …
mutations lead to hereditary and sporadic forms of cancer. Although more than twenty years …
Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
R Saiki, Y Momozawa, Y Nannya, MM Nakagawa… - Nature medicine, 2021 - nature.com
Clonal hematopoiesis (CH) in apparently healthy individuals is implicated in the
development of hematological malignancies (HM) and cardiovascular diseases. Previous …
development of hematological malignancies (HM) and cardiovascular diseases. Previous …