Associated Papers
Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.
Cabral PL et al.
Jco Precision Oncology, 2025
40768677 (PubMed )
Supplement: DS_PO-24-00760.pdf
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.
Bergstrand S et al.
Cell Death & Disease, 2020
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
30552426 (PubMed )
Supplement: 41431_2018_299_MOESM1_ESM.docx
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
The scaffold protein WRAP53β orchestrates the ubiquitin response critical for DNA double-strand break repair.
Henriksson S et al.
Genes & Development, 2014
25512560 (PubMed )
Supplement: supp_28.24.2726_Supplemental_Figures.pdf
Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1.
Freund A et al.
Cell, 2014
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
Batista LF et al.
Nature, 2011
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
Zhong F et al.
Genes & Development, 2011
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