Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice

C Ustun, M Arock, HC Kluin-Nelemans… - …, 2016 - hal.sorbonne-universite.fr
Systemic mastocytosis is a heterogeneous disease characterized by the accumulation of
neoplastic mast cells in the bone marrow and other organ organs/tissues. Mutations in KIT …

Molecular defects in mastocytosis: KIT and beyond KIT

S Bibi, F Langenfeld… - Immunology and …, 2014 - immunology.theclinics.com
Mast cells (MCs) are multifunctional immune cells derived from hematopoietic stem cell
(HSC) in the bone marrow (BM). Committed BM MC progenitors (MCPs) are released into …

Nanopores discriminate among five C5-cytosine variants in DNA

ZL Wescoe, J Schreiber, M Akeson - Journal of the American …, 2014 - ACS Publications
Individual DNA molecules can be read at single nucleotide precision using nanopores
coupled to processive enzymes. Discrimination among the four canonical bases has been …

TET2 plays an essential role in erythropoiesis by regulating lineage-specific genes via DNA oxidative demethylation in a zebrafish model

L Ge, R Zhang, F Wan, D Guo, P Wang… - … and cellular biology, 2014 - Am Soc Microbiol
Although epigenetic modulation is critical for a variety of cellular activities, its role in
erythropoiesis remains poorly understood. Ten-eleven translocation (TET) molecules …

5-Hydroxymethylcytosine and disease

J Wang, J Tang, M Lai, H Zhang - Mutation Research/Reviews in Mutation …, 2014 - Elsevier
Epigenetics is the study of inherited changes in phenotype or gene expression that do not
alter DNA sequence. Recently, scientists have focused their attention on 5 …

Comprehensive analysis of acquired genetic variants and their prognostic impact in systemic mastocytosis

O González-López, JI Muñoz-González, A Orfao… - Cancers, 2022 - mdpi.com
Simple Summary Systemic mastocytosis (SM) is a clonal haematopoietic stem cell disease
typically characterized by the expansion and accumulation of neoplastic mast cells carrying …

Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer

UM Schick, A McDavid, PK Crane, N Weston… - PLoS …, 2013 - journals.plos.org
Chromosomal abnormalities provide clinical utility in the diagnosis and treatment of
hematologic malignancies, and may be predictive of malignant transformation in individuals …

Piecing together the puzzle: nanopore technology in detection and quantification of cancer biomarkers

T Vu, SL Davidson, J Borgesi, M Maksudul, TJ Jeon… - RSC …, 2017 - pubs.rsc.org
Cancer is the result of a multistep process, including various genetic and epigenetic
alterations, such as structural variants, transcriptional factors, telomere length, DNA …

Loss of Tet2 affects platelet function but not coagulation in mice

B Wang, M Xia, T Chen, M Li, D Shi, X Wang, A Pang… - Blood Science, 2020 - mednexus.org
Ten-eleven translocation 2 (TET2) functions as a methylcytosine dioxygenase that catalyzes
the iterative oxidation of 5-methylcytosine to 5-hydroxymethylcytosine, 5-formylcytosine and …

Altering chromatin methylation patterns and the transcriptional network involved in regulation of hematopoietic stem cell fate

M Shokouhian, M Bagheri, B Poopak… - Journal of Cellular …, 2020 - Wiley Online Library
Hematopoietic stem cells (HSCs) are quiescent cells with self‐renewal capacity and
potential multilineage development. Various molecular regulatory mechanisms such as …