Associated Papers
Genetic predisposition to porto-sinusoidal vascular disorder.
Ciriaci N et al.
Hepatology (baltimore, Md.), 2026
Clinical and genomic features of Iranian patients with very early onset IBD.
Haghipanah M et al.
Pediatric Research, 2026
A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report.
Wen R et al.
Medicine, 2026
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
Immune cells display an abnormal maturation and a proinflammatory profile in telomere biology disorders.
Gomes WR et al.
Blood Advances, 2025
Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.
Kwon YD et al.
Annals of Hematology, 2025
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Inducible pluripotent stem cell models to study bone marrow failure and MDS predisposition syndromes.
Sahoo SS et al.
Experimental Hematology, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
[Next generation sequencing in pediatric bone marrow failure: a valuable tool for accurate diagnosis].
Pacheco-Orozco RA et al.
Andes Pediatrica : Revista Chilena De Pediatria, 2024
RecQ helicase expression in patients with telomeropathies.
Silva JPL et al.
Molecular Biology Reports, 2024
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Da Costa L et al.
Blood Cells, Molecules & Diseases, 2024
The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.
Qin J et al.
Human Molecular Genetics, 2024
Telomeric repeat-containing RNA is dysregulated in acute myeloid leukemia.
Catto LFB et al.
Blood Advances, 2023
CRISPR screen identifies CEBPB as contributor to dyskeratosis congenita fibroblast senescence via augmented inflammatory gene response.
Westin ER et al.
G3 (bethesda, Md.), 2023
Thymidine nucleotide metabolism controls human telomere length.
Mannherz W et al.
Nature Genetics, 2023
Patient-Induced Pluripotent Stem Cell-Derived Hepatostellate Organoids Establish a Basis for Liver Pathologies in Telomeropathies.
Choi YJ et al.
Cellular and Molecular Gastroenterology and Hepatology, 2023
Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans.
Tokunaga M et al.
Frontiers in Cell and Developmental Biology, 2023
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Chu CM et al.
Npj Genomic Medicine, 2022
Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.
Nagpal N et al.
Nucleic Acids Research, 2022
The biology and management of dyskeratosis congenita and related disorders of telomeres.
Tummala H et al.
Expert Review of Hematology, 2022
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 2022
Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.
Guo Q et al.
Molecular Genetics & Genomic Medicine, 2022
Defective hematopoietic differentiation of immune aplastic anemia patient-derived iPSCs.
Tellechea MF et al.
Cell Death & Disease, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.
Wang L et al.
Frontiers in Pediatrics, 2022
A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita.
Yuan C et al.
Clinical, Cosmetic and Investigational Dermatology, 2022
Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes.
Walne AJ et al.
Blood Advances, 2021
Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance.
Garus A et al.
Rna (new York, N.y.), 2021
Reduced-intensity conditioning-based hematopoietic cell transplantation for dyskeratosis congenita: Single-center experience and literature review.
Bhoopalan SV et al.
Pediatric Blood & Cancer, 2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Telomere Dysfunction Activates p53 and Represses HNF4α Expression Leading to Impaired Human Hepatocyte Development and Function.
Munroe M et al.
Hepatology (baltimore, Md.), 2020
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Ziv A et al.
Journal of Clinical Immunology, 2020
Telomerase RNA processing: Implications for human health and disease.
Nagpal N et al.
Stem Cells (dayton, Ohio), 2020
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.
Shukla S et al.
Blood Advances, 2020
Cancer spectrum and outcomes in the Mendelian short telomere syndromes.
Schratz KE et al.
Blood, 2020
Dyskerin Mutations Present in Dyskeratosis Congenita Patients Increase Oxidative Stress and DNA Damage Signalling in Dictyostelium Discoideum.
Rodriguez-Centeno J et al.
Cells, 2019
Telomere dynamics and hematopoietic differentiation of human DKC1-mutant induced pluripotent stem cells.
Donaires FS et al.
Stem Cell Research, 2019
Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation.
Chen RL et al.
International Journal of Molecular Sciences, 2019
Uncovering the assembly pathway of human ribosomes and its emerging links to disease.
Bohnsack KE et al.
The Embo Journal, 2019
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
N-terminal residues of human dyskerin are required for interactions with telomerase RNA that prevent RNA degradation.
MacNeil DE et al.
Nucleic Acids Research, 2019