Associated Papers
The c.2031-2A>C MPO gene variant and the predisposition to myeloid neoplasms.
Crocioni M et al.
Annals of Hematology, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
The many faces of the helicase RTEL1 at telomeres and beyond.
Hourvitz N et al.
Trends in Cell Biology, 2024
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants.
Tobai H et al.
Pediatric Blood & Cancer, 2023
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.
He M et al.
The Turkish Journal of Pediatrics, 2023
Resonance assignment and secondary structure of the tandem harmonin homology domains of human RTEL1.
Kumar N et al.
Biomolecular Nmr Assignments, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Relation between sex hormones and leucocyte telomere length in men with idiopathic pulmonary fibrosis.
Fang C et al.
Respirology (carlton, Vic.), 2020
SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations.
Takedachi A et al.
Nature Structural & Molecular Biology, 2020
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 2019
Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.
Borie R et al.
The European Respiratory Journal, 2019
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
van Doormaal PTC et al.
Human Mutation, 2017
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C et al.
Frontiers in Immunology, 2017
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Fedick AM et al.
Clinical Genetics, 2015
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Glousker G et al.
British Journal of Haematology, 2015
The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.
Faure G et al.
Proteins, 2014
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.
Brastianos PK et al.
Nature Genetics, 2014
[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].
Le Guen T et al.
Medecine Sciences : M/s, 2013
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne AJ et al.
American Journal of Human Genetics, 2013