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 …

Molecular mechanisms of telomere biology disorders

S Grill, J Nandakumar - Journal of Biological Chemistry, 2021 - ASBMB
Genetic mutations that affect telomerase function or telomere maintenance result in a variety
of diseases collectively called telomeropathies. This wide spectrum of disorders, which …

Structure of active human telomerase with telomere shelterin protein TPP1

B Liu, Y He, Y Wang, H Song, ZH Zhou, J Feigon - Nature, 2022 - nature.com
Human telomerase is a RNA–protein complex that extends the 3′ end of linear
chromosomes by synthesizing multiple copies of the telomeric repeat TTAGGG. Its activity is …

The biology and management of dyskeratosis congenita and related disorders of telomeres

H Tummala, A Walne, I Dokal - Expert review of hematology, 2022 - Taylor & Francis
Background Dyskeratosis congenita (DC) is a multisystem syndrome characterized by
mucocutaneous abnormalities, bone marrow failure, and predisposition to cancer. Studies …

Dyskeratosis congenita: a literature review

MM AlSabbagh - JDDG: Journal der Deutschen …, 2020 - Wiley Online Library
Dyskeratosis congenita is a rare hereditary disease that occurs predominantly in males and
manifests clinically as the classic triad of reticulate hyperpigmentation, nail dystrophy and …

Multifunctionality of the telomere-capping shelterin complex explained by variations in its protein composition

C Ghilain, E Gilson, MJ Giraud-Panis - Cells, 2021 - mdpi.com
Protecting telomere from the DNA damage response is essential to avoid the entry into
cellular senescence and organismal aging. The progressive telomere DNA shortening in …

[HTML][HTML] Telomeres: dysfunction, maintenance, aging and cancer

P Liao, B Yan, C Wang, P Lei - Aging and Disease, 2023 - pmc.ncbi.nlm.nih.gov
Aging has emerged at the forefront of scientific research due to the growing social and
economic costs associated with the growing aging global population. The defining features …

Conformational plasticity and allosteric communication networks explain Shelterin protein TPP1 binding to human telomerase

S Aureli, VB Cardenas, S Raniolo… - Communications …, 2023 - nature.com
The Shelterin complex protein TPP1 interacts with human telomerase (TERT) by means of
the TEL-patch region, controlling telomere homeostasis. Aberrations in the TPP1-TERT …

Inherited reticulate pigmentary disorders

MH Lin, PC Chou, IC Lee, SF Yang, HS Yu, S Yu - Genes, 2023 - mdpi.com
Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin
conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited …

Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders

A Bertrand, I Ba, L Kermasson… - Human Molecular …, 2024 - academic.oup.com
Telomeres are nucleoprotein structures that protect the chromosome ends from degradation
and fusion. Telomerase is a ribonucleoprotein complex essential to maintain the length of …