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 …
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 …
of diseases collectively called telomeropathies. This wide spectrum of disorders, which …
Structure of active human telomerase with telomere shelterin protein TPP1
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 …
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
Background Dyskeratosis congenita (DC) is a multisystem syndrome characterized by
mucocutaneous abnormalities, bone marrow failure, and predisposition to cancer. Studies …
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 …
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 …
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 …
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
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 …
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 …
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 …
and fusion. Telomerase is a ribonucleoprotein complex essential to maintain the length of …