The landscape of somatic mutation in normal colorectal epithelial cells
H Lee-Six, S Olafsson, P Ellis, RJ Osborne… - Nature, 2019 - nature.com
The colorectal adenoma–carcinoma sequence has provided a paradigmatic framework for
understanding the successive somatic genetic changes and consequent clonal expansions …
understanding the successive somatic genetic changes and consequent clonal expansions …
Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a …
A Dressen, AR Abbas, C Cabanski… - The Lancet …, 2018 - thelancet.com
Background Idiopathic pulmonary fibrosis (IPF) risk has a strong genetic component. Studies
have implicated variations at several loci, including TERT, surfactant genes, and a single …
have implicated variations at several loci, including TERT, surfactant genes, and a single …
Genomic landscape of oxidative DNA damage and repair reveals regioselective protection from mutagenesis
Background DNA is subject to constant chemical modification and damage, which
eventually results in variable mutation rates throughout the genome. Although detailed …
eventually results in variable mutation rates throughout the genome. Although detailed …
Genomic footprints of activated telomere maintenance mechanisms in cancer
L Sieverling, C Hong, SD Koser, P Ginsbach… - Nature …, 2020 - nature.com
Cancers require telomere maintenance mechanisms for unlimited replicative potential. They
achieve this through TERT activation or alternative telomere lengthening associated with …
achieve this through TERT activation or alternative telomere lengthening associated with …
Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium
B Popp, M Krumbiegel, J Grosch, A Sommer, S Uebe… - Scientific reports, 2018 - nature.com
Genetic integrity of induced pluripotent stem cells (iPSCs) is essential for their validity as
disease models and for potential therapeutic use. We describe the comprehensive analysis …
disease models and for potential therapeutic use. We describe the comprehensive analysis …
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
JHR Farmery, ML Smith, AG Lynch - Scientific reports, 2018 - nature.com
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to
our understanding of cell replication and vitality. The proliferation of whole genome …
our understanding of cell replication and vitality. The proliferation of whole genome …
A bioinformatics approach to identify telomere sequences
I Somanathan, C Baysdorfer - Biotechniques, 2018 - Taylor & Francis
Conventional approaches to identify a telomere motif in a new genome are laborious and
time-intensive. An efficient new methodology based on next-generation sequencing (NGS) …
time-intensive. An efficient new methodology based on next-generation sequencing (NGS) …
[PDF][PDF] The role of telomere diversity in genome evolution and the role of evolution in shaping telomeres
E Blackburn - Melania Jennifer D'ANGIOLO - theses.hal.science
(Blackburn & Gall, 1978). They are constituted by tandem repeats of a DNA sequence
whose motif and length varies across species. Their essential functions are to stabilize …
whose motif and length varies across species. Their essential functions are to stabilize …
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
JHR Farmery, ML Smith… - bioRxiv, 2017 - biorxiv.org
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to
our understanding of cell replication and vitality. The proliferation of whole genome …
our understanding of cell replication and vitality. The proliferation of whole genome …
[HTML][HTML] The age of heterozygous telomerase mutant parents influences the adult phenotype of their offspring irrespective of genotype in zebrafish
Background: Mutations in proteins involved in telomere maintenance lead to a range of
human diseases, including dyskeratosis congenita, idiopathic pulmonary fibrosis and …
human diseases, including dyskeratosis congenita, idiopathic pulmonary fibrosis and …