Publications by authors named "Milena Kalmer"
Article Synopsis
- The text discusses the challenge of identifying somatic variants through single-cell RNA sequencing (scRNA-seq) due to issues like low transcript reads and protocol biases, which can miss critical genetic information.
- It introduces SIGURD (SIngle cell level Genotyping Using scRNA Data), an R-based tool designed to analyze scRNA-seq data by combining somatic and mitochondrial variants for more effective clonal analysis.
- SIGURD enables researchers to assess clonal relationships, gene expression changes, and how these variants relate to specific cell populations, as demonstrated through its application on cells from patients with myeloproliferative neoplasms.
Molecular diagnostics moves more into focus as technology advances. In patients with myeloproliferative neoplasms (MPN), identification and monitoring of the driver mutations have become an integral part of diagnosis and monitoring of the disease. In some patients, none of the known driver mutations (JAK2V617F, CALR, MPL) is found, and they are termed "triple negative" (TN).
View Article and Find Full Text PDFUnlabelled: Approximately 20% of patients with myeloproliferative neoplasms (MPN) harbor mutations in the gene calreticulin (CALR), with 80% of those mutations classified as either type I or type II. While type II CALR-mutant proteins retain many of the Ca2+ binding sites present in the wild-type protein, type I CALR-mutant proteins lose these residues. The functional consequences of this differential loss of Ca2+ binding sites remain unexplored.
View Article and Find Full Text PDFCalreticulin (CALR) mutations are driver mutations in myeloproliferative neoplasms (MPNs), leading to activation of the thrombopoietin receptor and causing abnormal megakaryopoiesis. Here, we generated patient-derived CALRins5- or CALRdel52-positive induced pluripotent stem cells (iPSCs) to establish an MPN disease model for molecular and mechanistic studies. We demonstrated myeloperoxidase deficiency in granulocytic cells derived from homozygous CALR mutant iPSCs, rescued by repairing the mutation using CRISPR/Cas9.
View Article and Find Full Text PDFLipocalin 2 (LCN2), a proinflammatory mediator, is involved in the pathogenesis of myeloproliferative neoplasms (MPN). Here, we investigated the molecular mechanisms of LCN2 overexpression in MPN. LCN2 mRNA expression was 20-fold upregulated in peripheral blood (PB) mononuclear cells of chronic myeloid leukemia (CML) and myelofibrosis (MF) patients vs.
View Article and Find Full Text PDFArticle Synopsis
- * CD41hi HSCs produce more megakaryocyte colonies in lab conditions but have poorer long-term ability to regenerate blood cells compared to the CD41lo HSCs during transplants.
- * Increased activity of CD41hi HSCs correlates with changes in gene expression related to cell growth and metabolism, and treatment with interferon-α raises