Low incidence of EPOR mutations in idiopathic erythrocytosis.
...Published in Haematologica
IGH rearrangement in myeloid neoplasms.
Published in Haematologica
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Exper...
Published in Haematologica
The broad use of next-generation sequencing and microarray platforms in the research and clinical laboratories has led to an increasing appreciation for the role of germline mutations in genes involved in hematopoiesis and lineage differentiation in contributing to myeloid neoplasms. Despite implementation of the American College of Medical Genetic...
The variable manifestations of disease in pyruvate kinase deficiency and their management.
...Published in Haematologica
Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary nonspherocytic hemolytic anemia and results in a broad spectrum of disease. Diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests that may not always be informative, including PK enzyme assay and genetic analysis of the PKLR gene. A s...
P2X7 promotes the progression of MLL-AF9 induced acute myeloid leukemia by upregulation of Pbx3.
...Published in Haematologica
Nucleotides mediate intercellular communication by activating purinergic receptors and take part in various physiological and pathological processes. Abnormal purinergic signaling plays important roles in malignant progression. P2X7, which belongs to the P2X family of purinergic receptors, is abnormally expressed in various types of malignancies in...
The HDAC and PI3K dual inhibitor CUDC-907 synergistically enhances the antileukemic activity of venetoclax in preclinica...
...Published in Haematologica
Venetoclax is a promising agent in the treatment of acute myeloid leukemia, though its antileukemic activity is limited to combination therapies. Mcl-1 downregulation, Bim upregulation, and DNA damage have been identified as potential ways to enhance venetoclax activity. In this study, we combine venetoclax with the dual PI3K and histone deacetylas...
CD4+ T-cell alloreactivity after haploidentical hematopoietic stem cell transplantation.
Published in Haematologica
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction...
Published in Haematologica
Despite the exhaustive screening of F7 gene exons and exon-intron boundaries and promoter region, a significant proportion of mutated alleles remains unidentified in patients with coagulation factor VII deficiency. Here, we applied next-generation sequencing to 13 FVII-deficient patients displaying genotype-phenotype discrepancies upon conventional...
CDCA7 finely tunes cytoskeleton dynamics to promote lymphoma migration and invasion.
Published in Haematologica
Metastases, the major cause of death from cancer, require cells' acquisition of the ability to migrate and involve multiple steps, including local tumor cell invasion and basement membrane penetration. Certain lymphoid tumors are highly metastatic, but the mechanisms of invasion by lymphoma cells are poorly understood. We recently showed that CDCA7...
Phenotype-based drug screening reveals association between venetoclax response and differentiation stage in acute myeloi...
...Published in Haematologica
