Alternatively Spliced CSF3R in Human Health and Disease

BA Wang - 2022 - scholarscompass.vcu.edu
Elevated alternative colony stimulating factor 3 receptor (CSF3R) isoforms are observed in
myelodysplastic syndromes (MDS) and other myeloid neoplasms, but their role in driving …

Alternatively spliced CSF3R isoforms in SRSF2 P95H mutated myeloid neoplasms

BA Wang, HM Mehta, SR Penumutchu, BS Tolbert… - Leukemia, 2022 - nature.com
Alternatively spliced colony stimulating factor 3 receptor (CSF3R) isoforms Class III and
Class IV are observed in myelodysplastic syndromes (MDS), but their roles in disease …

[HTML][HTML] MDS-Associated Splicing Factor Mutations Promote Alternative Splicing of a Differentiation-Impaired CSF3R Isoform

B Wang, HM Mehta, SJ Corey - Blood, 2021 - Elsevier
Background. Myelodysplastic syndromes (MDS) constitute the most common group of bone
marrow failure disorders, characterized by ineffective hematopoiesis and a significant risk of …

SRSF2 Mutations Impair Hematopoietic Differentiation By Altering Exonic Splicing Enhancer Preference

E Kim, JO Ilagan, S Lee, A Ramakrishnan, YR Chung… - 2014 - ashpublications.org
Spliceosomal mutations account for the most frequent class of mutations in patients with
MDS and CMML, yet the mechanism by which these mutations perform their driver function …

SRSF2 is essential for hematopoiesis, and its myelodysplastic syndrome-related mutations dysregulate alternative pre-mRNA splicing

Y Komeno, YJ Huang, J Qiu, L Lin, YJ Xu… - … and cellular biology, 2015 - Taylor & Francis
Myelodysplastic syndromes (MDS) are a group of neoplasms characterized by ineffective
myeloid hematopoiesis and various risks for leukemia. SRSF2, a member of the …

Physiological Srsf2 P95H expression causes impaired hematopoietic stem cell functions and aberrant RNA splicing in mice

A Kon, S Yamazaki, Y Nannya… - Blood, The Journal …, 2018 - ashpublications.org
Splicing factor mutations are characteristic of myelodysplastic syndromes (MDS) and related
myeloid neoplasms and implicated in their pathogenesis, but their roles in the development …

[HTML][HTML] CSF3R Splicing Regulates Granulopoiesis Via Splice Variant Specific Responses to G-CSF

A Lance, R Mani, SL Seegers, BR Avalos, LJ Druhan - Blood, 2021 - Elsevier
The granulocyte colony stimulating factor receptor (CSF3R) is a critical regulator of
neutrophil production with multiple alternatively spliced variants. The truncated CSF3R-V4 …

[HTML][HTML] Myelodysplastic syndrome-associated SRSF2 mutations cause splicing changes by altering binding motif sequences

S Masaki, S Ikeda, A Hata, Y Shiozawa, A Kon… - Frontiers in …, 2019 - frontiersin.org
Serine/arginine-rich splicing factor 2 (SRSF2) is a member of the SR protein family that is
involved in both constitutive and alternative mRNA splicing. Mutations in SRSF2 gene are …

Altered expression of CSF3R splice variants impacts signal response and is associated with SRSF2 mutations

A Lance, LJ Druhan, CG Vestal, NM Steuerwald… - Leukemia, 2020 - nature.com
Abstract Three annotated CSF3R mRNA splice variants have been described. CSF3R-V1 is
the wild-type receptor, while CSF3R-V4 is a truncated form increased in some patients with …

SRSF2 mutations drive oncogenesis by activating a global program of aberrant alternative splicing in hematopoietic cells

Y Liang, T Tebaldi, K Rejeski, P Joshi, G Stefani… - Leukemia, 2018 - nature.com
Recurrent mutations in the splicing factor SRSF2 are associated with poor clinical outcomes
in myelodysplastic syndromes (MDS). Their high frequency suggests these mutations drive …