Exploring the promising potential of induced pluripotent stem cells in cancer research and therapy

M Chehelgerdi, F Behdarvand Dehkordi… - Molecular Cancer, 2023 - Springer
The advent of iPSCs has brought about a significant transformation in stem cell research,
opening up promising avenues for advancing cancer treatment. The formation of cancer is a …

Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome

CA Clough, J Pangallo, M Sarchi… - Blood, The Journal …, 2022 - ashpublications.org
SF3B1 splicing factor mutations are near-universally found in myelodysplastic syndromes
(MDS) with ring sideroblasts (RS), a clonal hematopoietic disorder characterized by …

Causes and pathophysiology of acquired sideroblastic anemia

JJ Rodriguez-Sevilla, X Calvo, L Arenillas - Genes, 2022 - mdpi.com
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders
characterized by anemia and the presence of ring sideroblasts in the bone marrow. Ring …

Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci

JM Mudge, I Jungreis, T Hunt, JM Gonzalez… - Genome …, 2019 - genome.cshlp.org
The most widely appreciated role of DNA is to encode protein, yet the exact portion of the
human genome that is translated remains to be ascertained. We previously developed …

Integrative RNA-omics Discovers GNAS Alternative Splicing as a Phenotypic Driver of Splicing Factor–Mutant Neoplasms

EC Wheeler, S Vora, D Mayer, AG Kotini, M Olszewska… - Cancer discovery, 2022 - AACR
Mutations in splicing factors (SF) are the predominant class of mutations in myelodysplastic
syndrome (MDS), but convergent downstream disease drivers remain elusive. To identify …

Hotspot SF3B1 mutations induce metabolic reprogramming and vulnerability to serine deprivation

WB Dalton, E Helmenstine, N Walsh… - The Journal of …, 2019 - Am Soc Clin Investig
Cancer-associated mutations in the spliceosome gene SF3B1 create a neomorphic protein
that produces aberrant mRNA splicing in hundreds of genes, but the ensuing biologic and …

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome

T Ochi, T Fujiwara, K Ono, C Suzuki, M Nikaido… - Scientific Reports, 2022 - nature.com
Acquired sideroblastic anemia, characterized by bone marrow ring sideroblasts (RS), is
predominantly associated with myelodysplastic syndrome (MDS). Although somatic …

[HTML][HTML] Lamin B1 deletion in myeloid neoplasms causes nuclear anomaly and altered hematopoietic stem cell function

A Reilly, JP Creamer, S Stewart, MC Stolla, Y Wang… - Cell stem cell, 2022 - cell.com
Abnormal nuclear morphology is a hallmark of malignant cells widely used in cancer
diagnosis. Pelger-Huët anomaly (PHA) is a common abnormality of neutrophil nuclear …

RUNX1 mutations mitigate quiescence to promote transformation of hematopoietic progenitors in Fanconi anemia

W Marion, T Koppe, CC Chen, D Wang, K Frenis… - Leukemia, 2023 - nature.com
Many inherited bone marrow failure syndromes (IBMFSs) present a high risk of
transformation to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) …

Patient-derived iPSCs faithfully represent the genetic diversity and cellular architecture of human acute myeloid leukemia

AG Kotini, S Carcamo, N Cruz-Rodriguez… - Blood cancer …, 2023 - AACR
The reprogramming of human acute myeloid leukemia (AML) cells into induced pluripotent
stem cell (iPSC) lines could provide new faithful genetic models of AML, but is currently …