Occurrence, functionality and abundance of the TERT promoter mutations

S Rachakonda, JD Hoheisel… - International Journal of …, 2021 - Wiley Online Library
Telomere shortening at chromosomal ends due to the constraints of the DNA replication
process acts as a tumor suppressor by restricting the replicative potential in primary cells …

[HTML][HTML] Transition from animal-based to human induced pluripotent stem cells (iPSCs)-based models of neurodevelopmental disorders: Opportunities and challenges

S Guerreiro, P Maciel - Cells, 2023 - mdpi.com
Neurodevelopmental disorders (NDDs) arise from the disruption of highly coordinated
mechanisms underlying brain development, which results in impaired sensory, motor and/or …

[HTML][HTML] A non-genetic switch triggers alternative telomere lengthening and cellular immortalization in ATRX deficient cells

TK Turkalo, A Maffia, JJ Schabort, SG Regalado… - Nature …, 2023 - nature.com
Abstract Alternative Lengthening of Telomeres (ALT) is an aberrant DNA recombination
pathway which grants replicative immortality to approximately 10% of all cancers. Despite …

TPP1 promoter mutations cooperate with TERT promoter mutations to lengthen telomeres in melanoma

P Chun-On, AM Hinchie, HC Beale, AA Gil Silva… - Science, 2022 - science.org
Overcoming replicative senescence is an essential step during oncogenesis, and the
reactivation of TERT through promoter mutations is a common mechanism. TERT promoter …

Cancer‐associated POT1 mutations lead to telomere elongation without induction of a DNA damage response

WT Kim, K Hennick, J Johnson, B Finnerty… - The EMBO …, 2021 - embopress.org
Mutations in the shelterin protein POT1 are associated with chronic lymphocytic leukemia
(CLL), Hodgkin lymphoma, angiosarcoma, melanoma, and other cancers. These cancer …

Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita

S Choo, FK Lorbeer, SG Regalado… - Blood, The Journal …, 2022 - ashpublications.org
Mutations in the TINF2 gene, encoding the shelterin protein TIN2, cause telomere
shortening and the inherited bone marrow (BM) failure syndrome dyskeratosis congenita …

[HTML][HTML] Polymerized laminin-521: A feasible substrate for expanding induced pluripotent stem cells at a low protein concentration

FCP Mesquita, ES Leite, J Morrissey, C Freitas… - Cells, 2022 - mdpi.com
Laminins (LNs) play a central role in the self-assembly and maintenance of basement
membranes and are involved in critical interactions between cells and other extracellular …

[HTML][HTML] Telomouse—a mouse model with human-length telomeres generated by a single amino acid change in RTEL1

R Smoom, CL May, V Ortiz, M Tigue, HM Kolev… - Nature …, 2023 - nature.com
Telomeres, the ends of eukaryotic chromosomes, protect genome integrity and enable cell
proliferation. Maintaining optimal telomere length in the germline and throughout life limits …

[PDF][PDF] 不同物种端粒结合蛋白和端粒酶的研究进展

石桂英, 黄艺滢, 雷雪裴, 李欣悦, 白琳 - 中国比较医学杂志, 2022 - zgbjyx.cnjournals.com
端粒位于真核生物染色体末端, 在复制过程中保护染色体的完整性. 端粒随着细胞的有丝分裂而
缩短, 端粒酶在胚胎干细胞等细胞中起到了延长端粒的作用. 端粒结合蛋白包括shelterin …

[PDF][PDF] Characterization of the telomere binding protein ZNF524

H Braun - 2022 - openscience.ub.uni-mainz.de
The work presented in this thesis was conducted by me and other members of the laboratory
and the study was supported by a research collaboration. I was involved in the …