Telomere dysfunction in ageing and age-related diseases

F Rossiello, D Jurk, JF Passos… - Nature cell …, 2022 - nature.com
Ageing organisms accumulate senescent cells that are thought to contribute to body
dysfunction. Telomere shortening and damage are recognized causes of cellular …

[HTML][HTML] Telomeres: history, health, and hallmarks of aging

D Chakravarti, KA LaBella, RA DePinho - Cell, 2021 - cell.com
The escalating social and economic burden of an aging world population has placed aging
research at center stage. The hallmarks of aging comprise diverse molecular mechanisms …

The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia

AS Sperling, CJ Gibson, BL Ebert - Nature Reviews Cancer, 2017 - nature.com
Myelodysplastic syndrome (MDS) is a clonal disease that arises from the expansion of
mutated haematopoietic stem cells. In a spectrum of myeloid disorders ranging from clonal …

Clonal hematopoiesis: Mutation-specific adaptation to environmental change

MA Florez, BT Tran, TK Wathan, J DeGregori… - Cell Stem Cell, 2022 - cell.com
Clonal hematopoiesis of indeterminate potential (CHIP) describes a widespread expansion
of genetically variant hematopoietic cells that increases exponentially with age and is …

The augmented R-loop is a unifying mechanism for myelodysplastic syndromes induced by high-risk splicing factor mutations

L Chen, JY Chen, YJ Huang, Y Gu, J Qiu, H Qian… - Molecular cell, 2018 - cell.com
Mutations in several general pre-mRNA splicing factors have been linked to myelodysplastic
syndromes (MDSs) and solid tumors. These mutations have generally been assumed to …

Stem cell architecture drives myelodysplastic syndrome progression and predicts response to venetoclax-based therapy

I Ganan-Gomez, H Yang, F Ma, G Montalban-Bravo… - Nature medicine, 2022 - nature.com
Myelodysplastic syndromes (MDS) are heterogeneous neoplastic disorders of
hematopoietic stem cells (HSCs). The current standard of care for patients with MDS is …

Defective control of pre–messenger RNA splicing in human disease

B Chabot, L Shkreta - Journal of Cell Biology, 2016 - rupress.org
Examples of associations between human disease and defects in pre–messenger RNA
splicing/alternative splicing are accumulating. Although many alterations are caused by …

The emerging role of alternative splicing in senescence and aging

M Deschenes, B Chabot - Aging cell, 2017 - Wiley Online Library
Deregulation of precursor mRNA splicing is associated with many illnesses and has been
linked to age‐related chronic diseases. Here we review recent progress documenting how …

TRF2-mediated telomere protection is dispensable in pluripotent stem cells

M Markiewicz-Potoczny, A Lobanova, AM Loeb… - Nature, 2021 - nature.com
In mammals, telomere protection is mediated by the essential protein TRF2, which binds
chromosome ends and ensures genome integrity,. TRF2 depletion results in end-to-end …

ILF2 is a regulator of RNA splicing and DNA damage response in 1q21-amplified multiple myeloma

M Marchesini, Y Ogoti, E Fiorini, AA Samur, L Nezi… - Cancer cell, 2017 - cell.com
Amplification of 1q21 occurs in approximately 30% of de novo and 70% of relapsed multiple
myeloma (MM) and is correlated with disease progression and drug resistance. Here, we …