Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

CPEB and translational control by cytoplasmic polyadenylation: Impact on synaptic plasticity, learning, and memory

YS Huang, R Mendez, M Fernandez, JD Richter - Molecular psychiatry, 2023 - nature.com
The late 1990s were banner years in molecular neuroscience; seminal studies
demonstrated that local protein synthesis, at or near synapses, was necessary for synaptic …

Mesenchymal stem cell treatment improves outcome of COVID-19 patients via multiple immunomodulatory mechanisms

R Zhu, T Yan, Y Feng, Y Liu, H Cao, G Peng, Y Yang… - Cell research, 2021 - nature.com
The infusion of coronavirus disease 2019 (COVID-19) patients with mesenchymal stem cells
(MSCs) potentially improves clinical symptoms, but the underlying mechanism remains …

Human anti-smallpox long-lived memory B cells are defined by dynamic interactions in the splenic niche and long-lasting germinal center imprinting

P Chappert, F Huetz, MA Espinasse, F Chatonnet… - Immunity, 2022 - cell.com
Memory B cells (MBCs) can persist for a lifetime, but the mechanisms that allow their long-
term survival remain poorly understood. Here, we isolated and analyzed human splenic …

[HTML][HTML] Short telomeres increase the risk of severe COVID-19

A Froidure, M Mahieu, D Hoton, PF Laterre… - Aging (Albany …, 2020 - ncbi.nlm.nih.gov
Telomeres are non-coding DNA sequences that protect chromosome ends and shorten with
age. Short telomere length (TL) is associated with chronic diseases and …

A new frontier in Fanconi anemia: From DNA repair to ribosome biogenesis

A Gueiderikh, F Maczkowiak-Chartois, F Rosselli - Blood reviews, 2022 - Elsevier
Abstract Described by Guido Fanconi almost 100 years ago, Fanconi anemia (FA) is a rare
genetic disease characterized by developmental abnormalities, bone marrow failure (BMF) …

Cross-talk between PARN and EGFR–STAT3 Signaling Facilitates Self-Renewal and Proliferation of Glioblastoma Stem Cells

J Yin, Y Seo, J Rhim, X Jin, TH Kim, SS Kim, JH Hong… - Cancer Research, 2023 - AACR
Glioblastoma is the most common type of malignant primary brain tumor and displays highly
aggressive and heterogeneous phenotypes. The transcription factor STAT3 has been …

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome

M Benyelles, MF O'donohue… - Human Molecular …, 2020 - academic.oup.com
Telomeres are nucleoprotein structures at the end of chromosomes. The telomerase
complex, constituted of the catalytic subunit TERT, the RNA matrix h TR and several …

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

L Kermasson, D Churikov, A Awad… - Blood, The Journal …, 2022 - ashpublications.org
Learning objectives Inherited bone marrow failure syndromes (IBMFSs) are a group of
disorders typified by impaired production of 1 or several blood cell types. The telomere …

How genetic defects in piRNA trimming contribute to male infertility

JM Mann, C Wei, C Chen - Andrology, 2023 - Wiley Online Library
In germ cells, small non‐coding PIWI‐interacting RNAs (piRNAs) work to silence harmful
transposons to maintain genomic stability and regulate gene expression to ensure fertility …