Journal ArticleDOI
Genetics of human telomere biology disorders
TLDR
The TBD-causing genes identified so far are reviewed and their main functions associated with telomere biology are described, including genetic anticipation, phenocopy, incomplete penetrance and somatic genetic rescue, which underlie the complexity of these diseases.About:
This article is published in Nature Reviews Genetics.The article was published on 2022-09-23. It has received 20 citations till now. The article focuses on the topics: Medicine & Telomere.read more
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Resveratrol and SIRT1: Antiaging Cornerstones for Oocytes?
TL;DR: In this paper , the authors discuss the latest findings related to resveratrol, Sirtuin 1, and their crosstalk and influence on the mammalian oocyte to elucidate the question of whether these factors can delay or slow down reproductive aging.
Journal ArticleDOI
Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
Spyros Papiris,Caroline Kannengiesser,Raphael Borie,Lykourgos Kolilekas,Maria Kallieri,Vasiliki Apollonatou,Ibrahima Ba,Nadia Nathan,Andrew Bush,Matthias Griese,Philippe Dieudé,Bruno Crestani,Effrosyni D. Manali +12 more
TL;DR: In this article , the authors overview the clinical significance of genetics in pulmonary fibrosis and provide evidence for unsuspected characteristics such as immunodeficiency, impaired mucus, and surfactant and telomere maintenance that very often co-exist through the interaction of common and rare genetic variants in the same patient.
Journal ArticleDOI
Thymidine nucleotide metabolism controls human telomere length
William Mannherz,Suneet Agarwal +1 more
Journal ArticleDOI
Inherited bone marrow failure syndromes: a review of current practices and potential future research directions
Joseph Deng,Lisa J. McReynolds +1 more
TL;DR: A review of the current state of diagnosis and treatment modalities of the major inherited bone marrow failure syndromes (IBMFS) seen in paediatrics is presented in this article .
Journal ArticleDOI
Telomere biology and ribosome biogenesis: structural and functional interconnections.
TL;DR: In this article , the authors provide a brief summary of eukaryotic telomere and rDNA loci structures, highlight several universal features of rRNA and telomerase biogenesis, evaluate intriguing interconnections between telomeres biology and ribosome assembly, and conclude with an assessment of overlapping features of human diseases of telomeropathies and Ribosomopathies.
References
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The pilot study.
TL;DR: A randomized controlled experiment is designed to test whether access to affordable day care (in the form of subsidies, for example) would incentivize Saudi mothers to search actively for employment and to remain employed once they are hired.
Journal ArticleDOI
Extension of life-span by introduction of telomerase into normal human cells
Andrea G. Bodnar,Michel M. Ouellette,Maria Frolkis,Shawn E. Holt,Choy-Pik Chiu,Gregg B. Morin,Calvin B. Harley,Jerry W. Shay,Serge Lichtsteiner,Woodring E. Wright +9 more
TL;DR: In this article, two telomerase-negative normal human cell types, retinal pigment epithelial cells and foreskin fibroblasts, were transfected with vectors encoding the human telomere catalytic subunit.
Journal ArticleDOI
hEST2, the Putative Human Telomerase Catalytic Subunit Gene, Is Up-Regulated in Tumor Cells and during Immortalization
Matthew Meyerson,Christopher M. Counter,Elinor Ng Eaton,Leif W. Ellisen,Philipp Steiner,Stephanie Dickinson Caddle,Liuda Ziaugra,Roderick L. Beijersbergen,Michael J. Davidoff,Qingyun Liu,Silvia Bacchetti,Daniel A. Haber,Robert A. Weinberg +12 more
TL;DR: The cloning of a human gene, hEST2, that shares significant sequence similarity with the telomerase catalytic subunit genes of lower eukaryotes is reported, suggesting that the induction of hEST 2 mRNA expression is required for the telomersase activation that occurs during cellular immortalization and tumor progression.
Journal ArticleDOI
Highly Recurrent TERT Promoter Mutations in Human Melanoma
Franklin W. Huang,Franklin W. Huang,Eran Hodis,Eran Hodis,Eran Hodis,Mary Jue Xu,Mary Jue Xu,Mary Jue Xu,Gregory V. Kryukov,Lynda Chin,Levi A. Garraway,Levi A. Garraway +11 more
TL;DR: Two independent mutations within the core promoter of telomerase reverse transcriptase (TERT) are described, which collectively occur in 50 of 70 melanomas examined, suggesting somatic mutations in regulatory regions of the genome may represent an important tumorigenic mechanism.
Journal ArticleDOI
TERT Promoter Mutations in Familial and Sporadic Melanoma
Susanne Horn,Adina Figl,P. Sivaramakrishna Rachakonda,Christine Fischer,Antje Sucker,Andreas Gast,Stephanie Kadel,Iris Moll,Eduardo Nagore,Kari Hemminki,Kari Hemminki,Dirk Schadendorf,Rajesh Kumar +12 more
TL;DR: A melanoma-prone family through linkage analysis and high-throughput sequencing was investigated and a disease-segregating germline mutation in the promoter of the telomerase reverse transcriptase (TERT) gene, which encodes the catalytic subunit of telomersase, caused up to twofold increase in transcription.