Super-enhancer landscape reveals leukemia stem cell reliance on X-box binding protein 1 as a therapeutic vulnerability

J Zhou, S Wang, D Nie, P Lai, Y Li, Y Li, Y Jin… - Science Translational …, 2021 - science.org
Relapse of patients with chronic myelogenous leukemia (CML) may occur at least partially
because leukemia stem cells (LSCs) lack sensitivity to tyrosine kinase inhibitors (TKIs) such …

Landmarks of human embryonic development inscribed in somatic mutations

S Bizzotto, Y Dou, J Ganz, RN Doan, M Kwon… - Science, 2021 - science.org
Although cell lineage information is fundamental to understanding organismal development,
very little direct information is available for humans. We performed high-depth (250×) whole …

CALR-mutated cells are vulnerable to combined inhibition of the proteasome and the endoplasmic reticulum stress response

JS Jutzi, AE Marneth, MJ Jiménez-Santos, J Hem… - Leukemia, 2023 - nature.com
Cancer is driven by somatic mutations that provide a fitness advantage. While targeted
therapies often focus on the mutated gene or its direct downstream effectors, imbalances …

[HTML][HTML] Single-cell analysis of a mutant library generated using CRISPR-guided deaminase in human melanoma cells

S Jun, H Lim, H Chun, JH Lee, D Bang - Communications biology, 2020 - nature.com
CRISPR-based screening methods using single-cell RNA sequencing (scRNA-seq)
technology enable comprehensive profiling of gene perturbations from knock-out mutations …

[HTML][HTML] Induced human regulatory T cells express the glucagon-like peptide-1 receptor

AKO Rode, TB Buus, V Mraz, FAH Al-Jaberi, DV Lopez… - Cells, 2022 - mdpi.com
The glucagon-like peptide-1 receptor (GLP-1R) plays a key role in metabolism and is an
important therapeutic target in diabetes and obesity. Recent studies in experimental animals …

[HTML][HTML] Nanopore sequencing in blood diseases: a wide range of opportunities

CF Minervini, C Cumbo, P Orsini, L Anelli… - Frontiers in …, 2020 - frontiersin.org
The molecular pathogenesis of hematological diseases is often driven by genetic and
epigenetic alterations. Next-generation sequencing has considerably increased our …

LACE: Inference of cancer evolution models from longitudinal single-cell sequencing data

D Ramazzotti, F Angaroni, D Maspero… - Journal of …, 2022 - Elsevier
The rise of longitudinal single-cell sequencing experiments on patient-derived cell cultures,
xenografts and organoids is opening new opportunities to track cancer evolution, assess the …

[HTML][HTML] Clonal evolution of high-risk chronic lymphocytic leukemia: A contemporary perspective

M Kwok, CJ Wu - Frontiers in oncology, 2021 - frontiersin.org
Clonal evolution represents the natural process through which cancer cells continuously
search for phenotypic advantages that enable them to develop and expand within …

Human embryonic genetic mosaicism and its effects on development and disease

SM Waldvogel, JE Posey, MA Goodell - Nature Reviews Genetics, 2024 - nature.com
Nearly every mammalian cell division is accompanied by a mutational event that becomes
fixed in a daughter cell. When carried forward to additional cell progeny, a clone of variant …

[HTML][HTML] The human brain through the lens of somatic mosaicism

S Bizzotto - Frontiers in Neuroscience, 2023 - frontiersin.org
Every cell in the human brain possesses a unique genome that is the product of the
accumulation of somatic mutations starting from the first postzygotic cell division and …