Affinage

RTEL1

Regulator of telomere elongation helicase 1 · UniProt Q9NZ71

Length
1219 aa
Mass
133.7 kDa
Annotated
2026-06-10
100 papers in source corpus 21 papers cited in narrative 21 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RTEL1 is an essential ATP-dependent DNA helicase that safeguards genome and telomere integrity by remodeling secondary nucleic-acid structures encountered during replication, recombination, and at chromosome ends (PMID:15210109, PMID:18957201). It suppresses homologous recombination by disassembling D-loop intermediates in an ATP-hydrolysis-dependent reaction, functionally analogous to yeast Srs2, and unwinds triplet-repeat hairpins to prevent CTG·CAG expansions (PMID:18957201, PMID:24561255). At telomeres, RTEL1 carries out two genetically separable activities: TRF2-dependent recruitment in S phase enables T-loop disassembly to prevent catastrophic excision by the SLX4 nuclease complex, while a distinct activity resolves telomeric G-quadruplex DNA to suppress telomere fragility (PMID:22579284, PMID:25620558). RTEL1 preserves the telomeric 3' G-overhang and POT1 association, an activity required for telomerase-dependent elongation of long telomeres, and a single residue in RTEL1 sets the species-specific telomere length set point in vivo (PMID:29522136, PMID:32542379, PMID:37872177). RTEL1 couples to the replisome through a direct PCNA (PIP-box) interaction that sustains fork progression, restrains origin firing, and prevents telomere fragility (PMID:24115439). It acts at replication–transcription intersections together with SLX4 and the Polδ subunit Poldip3 to resolve G4/R-loop structures and avert transcription-replication conflicts, with RNaseH1 overexpression rescuing the replication defects of RTEL1-deficient cells (PMID:32398829, PMID:33357438, PMID:32561545). RTEL1 helicase activity is also required for mitotic DNA synthesis at G4/R-loop-prone loci, where it recruits RAD52 and POLD3, and its C-terminus binds TERRA G-quadruplexes to regulate telomeric R-loops (PMID:32398827, PMID:34021146). Germline RTEL1 mutations in functional regions cause Hoyeraal-Hreidarsson syndrome, with patient phenotypes rescued by wild-type RTEL1 re-expression (PMID:23959892, PMID:25620558, PMID:32542379).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2004 High

    Established RTEL1 as an essential helicase-like gene dominantly controlling telomere length, answering whether a single factor governs the telomere length set point.

    Evidence Mouse knockout, interspecific M. musculus × M. spretus crosses, and telomere FISH

    PMID:15210109

    Open questions at the time
    • Did not define the biochemical activity of RTEL1
    • Mechanism of telomere length control left unresolved
  2. 2008 High

    Defined RTEL1's core enzymatic role as an anti-recombinase that dismantles D-loops, explaining how it suppresses hyperrecombination.

    Evidence In vitro D-loop disassembly with purified RTEL1, C. elegans/human genetics, BLM/sgs1 epistasis

    PMID:18957201

    Open questions at the time
    • Did not address telomere-specific substrates
    • Recruitment to recombination sites not defined
  3. 2010 High

    Extended RTEL1's anti-recombinase function to meiosis, showing it enforces crossover interference by channeling repair toward non-crossover synthesis-dependent strand annealing.

    Evidence C. elegans rtel-1 mutant meiotic crossover and interference analysis

    PMID:20203049

    Open questions at the time
    • Human meiotic relevance not tested
    • Molecular substrate at crossover sites not isolated
  4. 2012 High

    Separated RTEL1's two telomeric activities — T-loop disassembly versus G4 resolution — resolving how it both prevents telomere loss and fragility.

    Evidence RTEL1-/- mouse cells, SLX4/BLM depletion, G4 ligands, telomere FISH and circle assays

    PMID:22579284 PMID:22593209

    Open questions at the time
    • Did not identify the recruitment factor for telomere localization
    • Direct G4-unwinding biochemistry at telomeres not shown
  5. 2013 High

    Connected RTEL1 to the replisome via PCNA, distinguishing PCNA-dependent genome-wide fork support from PCNA-independent T-loop functions.

    Evidence PIP-box knockin mouse, DNA fiber/origin assays, telomere FISH, p53-/- tumor incidence

    PMID:24115439

    Open questions at the time
    • Substrate at stalled forks not biochemically defined
    • Link between fork instability and tumorigenesis mechanism incomplete
  6. 2013 Medium

    Linked RTEL1 to shelterin (TRF1) and established causality for Hoyeraal-Hreidarsson syndrome through patient mutations and rescue.

    Evidence Exome sequencing, patient lymphoblastoid cells, Co-IP with TRF1, WT rescue

    PMID:23959892

    Open questions at the time
    • Single Co-IP for TRF1 without reciprocal mapping
    • Functional consequence of TRF1 binding not dissected
  7. 2013 Low

    Identified a C-terminal harmonin-N-like protein-interaction hub harboring HHS mutations, framing the structural basis of RTEL1's partner interactions.

    Evidence Computational structural domain prediction

    PMID:24130156

    Open questions at the time
    • No experimental validation of the predicted domains or interactions
    • Binding partners of the hub not identified
  8. 2014 High

    Showed RTEL1 unwinds triplet-repeat hairpins to block CTG·CAG expansions, generalizing its Srs2-like activity to repeat instability.

    Evidence In vitro hairpin unwinding with purified RTEL1, human knockdown, yeast srs2 complementation

    PMID:24561255

    Open questions at the time
    • Mechanism of Rad18/HLTF dependence not detailed
    • In vivo repeat-expansion relevance in human disease not tested
  9. 2015 High

    Defined the molecular basis of telomeric recruitment: TRF2 binds RTEL1 via a C4C4 motif, an interaction whose disruption (R1264H) drives HHS pathology.

    Evidence Co-IP, reciprocal mutagenesis on TRF2 and RTEL1, S-phase ChIP, telomere circle/FISH phenocopy

    PMID:25620558

    Open questions at the time
    • Does not explain non-telomeric recruitment
    • Structural details of the C4C4–TRFH interface not resolved
  10. 2015 Medium

    Revealed an unexpected cytoplasmic role for RTEL1 in pre-U2 snRNA trafficking and RNP recycling, broadening its functions beyond DNA metabolism.

    Evidence HHS patient cells, fractionation, immunofluorescence, splicing assays, cytoplasmic RTEL1 rescue

    PMID:25628358

    Open questions at the time
    • Mechanism linking helicase activity to snRNA export unclear
    • Single lab; relationship to nuclear genome roles unresolved
  11. 2018 Medium

    Established that RTEL1's primary role in telomerase-dependent elongation is preserving the G-overhang and POT1 loading, not directly extending telomeres.

    Evidence siRNA depletion, G-overhang quantification, POT1 ChIP, POT1 overexpression rescue

    PMID:29522136

    Open questions at the time
    • Biochemical mechanism of overhang preservation not shown
    • Single lab
  12. 2020 High

    Defined RTEL1's role at replication-transcription intersections, showing it cooperates with SLX4, Poldip3, RAD52/POLD3 to resolve G4/R-loops, drive MiDAS, and prevent collisions.

    Evidence RTEL1/PIP mouse cells, helicase-dead mutants, iPOND, BioID/AP-MS, interaction-defective mutants, R-loop detection, RNaseH1 rescue

    PMID:32398827 PMID:32398829 PMID:32561545 PMID:33357438

    Open questions at the time
    • Order of recruitment among SLX4, Poldip3, RTEL1 not fully resolved
    • Direct R-loop unwinding by RTEL1 in vitro not demonstrated
  13. 2020 Medium

    Mapped the telomerase-elongation requirement to the RTEL1 C-terminus and confirmed rescue of HHS fibroblast phenotypes.

    Evidence Inducible WT/C-terminal mutant expression in HHS fibroblasts, telomere length and telomerase assays

    PMID:32542379

    Open questions at the time
    • C-terminal binding partner mediating this function not identified
    • Single lab
  14. 2021 High

    Identified a helicase-independent C-terminal G4-binding activity toward TERRA, linking RTEL1 to telomeric R-loop and TERRA regulation essential for viability.

    Evidence siRNA depletion, TERRA quantification, R-loop detection, in vitro G4-binding with C-terminal fragments, RNaseH1 rescue

    PMID:34021146

    Open questions at the time
    • How TERRA binding integrates with helicase activity unclear
    • Structural basis of C-terminal G4 recognition not resolved
  15. 2023 High

    Demonstrated RTEL1 cooperates with MCM10 to drive fork convergence during replication termination under topological stress.

    Evidence Xenopus egg extract replication, chromatin proteomics, immunodepletion, replication barrier assays

    PMID:36807139

    Open questions at the time
    • Whether RTEL1-MCM10 act in human termination not shown
    • Substrate at converging forks not defined
  16. 2023 High

    Proved a single RTEL1 residue is sufficient to reset the germline telomere length set point in vivo, cementing its dominant role in length control.

    Evidence CRISPR knock-in Telomouse model, multigenerational telomere measurement, phenotype analysis

    PMID:37872177

    Open questions at the time
    • Biochemical effect of the variant on helicase activity not defined
    • How one residue shifts the set point mechanistically unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • How RTEL1 selects among its many substrates (T-loops, G4-DNA, D-loops, R-loops, TERRA) and integrates its helicase and helicase-independent C-terminal activities in different genomic contexts remains unresolved.
  • No structure of full-length RTEL1 with substrate
  • Rules governing context-specific partner selection unknown
  • Mechanistic basis of cytoplasmic snRNA role unintegrated with nuclear functions

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140657 ATP-dependent activity 4 GO:0003677 DNA binding 3 GO:0140097 catalytic activity, acting on DNA 3 GO:0003723 RNA binding 2 GO:0016787 hydrolase activity 2
Localization
GO:0000228 nuclear chromosome 3 GO:0005634 nucleus 3 GO:0005829 cytosol 1
Pathway
R-HSA-1643685 Disease 3 R-HSA-69306 DNA Replication 3 R-HSA-1640170 Cell Cycle 2 R-HSA-73894 DNA Repair 2
Partners
MCM10PCNAPOLDIP3POT1RAD52SLX4TRF1TRF2
Complex memberships
RTEL1-Poldip3 complexreplisome (via PCNA)shelterin (via TRF1/TRF2)

Evidence

Reading pass · 21 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 Rtel1 is an essential helicase-like gene required for telomere length regulation; Rtel1-/- mice die embryonically with telomere loss, chromosome breaks and fusions, and crosses with M. spretus showed that Rtel1 from M. musculus is required for telomere elongation of M. spretus chromosomes in F1 cells. Gene knockout in mice, embryonic stem cell differentiation, interspecific crosses, telomere FISH Cell High 15210109
2008 C. elegans RTEL-1 and human RTEL1 suppress homologous recombination (HR) by promoting disassembly of D-loop recombination intermediates in an ATP hydrolysis-dependent reaction in vitro; loss of RTEL1 causes hyperrecombination, DNA damage sensitivity, and synthetic lethality with BLM/sgs1 deletion, functionally analogous to yeast Srs2. C. elegans genetics, human cell depletion (siRNA), in vitro D-loop disassembly assay with purified RTEL1, epistasis with BLM/sgs1 Cell High 18957201
2010 C. elegans RTEL-1 enforces meiotic crossover interference and homeostasis by promoting synthesis-dependent strand annealing (non-crossover pathway); loss of rtel-1 increases two classes of meiotic crossovers and compromises crossover interference. C. elegans genetics, meiotic crossover analysis in rtel-1 mutants Science High 20203049
2012 RTEL1 performs two distinct functions at telomeres: (1) it disassembles T loops to prevent their inappropriate resolution by the SLX4 nuclease complex (which generates telomere circles and telomere loss), and (2) it counteracts telomeric G-quadruplex (G4) DNA structures to suppress telomere fragility; these two activities are genetically separable. RTEL1-/- mouse cells, SLX4 depletion, BLM depletion, DNA replication block, G4-stabilizing ligands, telomere FISH, telomere circle assays Cell High 22579284
2012 mRtel1 localizes transiently at telomeres, is required for efficient telomere replication, promotes extension by telomerase, and its loss increases sister chromatid exchange and suppresses gene replacement, demonstrating involvement in homologous recombination. mRtel1-deficient mouse embryonic stem cells, live imaging/immunofluorescence for localization, SCE assay, gene targeting, DNA damage sensitivity Molecular biology of the cell Medium 22593209
2013 RTEL1 associates with the replisome through a direct interaction with PCNA (via a PIP box); disrupting the RTEL1-PCNA interaction (PIP mutant mouse cells) causes accelerated senescence, replication fork instability, reduced fork extension rates, increased origin usage, telomere fragility (but not T-loop disassembly defects), and accelerates tumorigenesis in p53-deficient mice. PIP-box knockin mouse model, DNA fiber assay, origin firing analysis, telomere FISH, tumor incidence in p53-/- background Science High 24115439
2013 Human RTEL1 interacts with the shelterin protein TRF1, and compound heterozygous RTEL1 mutations in HHS patients cause telomere shortening, fragility, fusions, and growth defects; wild-type RTEL1 re-expression rescues these phenotypes. Whole-genome exome sequencing, patient-derived lymphoblastoid cell lines, Co-immunoprecipitation of RTEL1 with TRF1, ectopic expression rescue experiments Proceedings of the National Academy of Sciences of the United States of America Medium 23959892
2013 The C-terminal extension of RTEL1 (downstream of the helicase domain) contains a tandem of harmonin-N-like domains predicted to serve as a hub for protein-protein interactions; several HHS-associated mutations map to this region. Computational domain analysis using structural prediction software Proteins Low 24130156
2015 TRF2 recruits RTEL1 to telomeres in S phase via a direct interaction mediated by a metal-coordinating C4C4 motif in RTEL1 and the TRFH domain of TRF2; this interaction is required for T-loop disassembly and to prevent catastrophic T-loop excision by structure-specific nucleases. The HHS mutation RTEL1(R1264H) disrupts this interaction; a TRF2(I124D) substitution eliminates RTEL1 binding and phenocopies RTEL1(R1264H). Co-immunoprecipitation, TRF2 and RTEL1 mutant cell lines, telomere circle and FISH assays, S-phase ChIP Molecular cell High 25620558
2014 RTEL1 blocks trinucleotide repeat (CTG·CAG) expansions by unwinding triplet-repeat hairpins in vitro; this activity requires Rad18 and HLTF, and RTEL1 can functionally substitute for yeast Srs2 in suppressing expansions and fragility. siRNA knockdown in human cells, in vitro hairpin-unwinding assay with purified RTEL1, yeast complementation with human RTEL1 in srs2 mutants Cell reports High 24561255
2015 RTEL1 is required for the nuclear export and correct cytoplasmic trafficking of pre-U2 snRNA; RTEL1-deficient HHS cells show abnormal subcellular partitioning of pre-U2, defects in cytoplasmic RNP recycling, and splicing defects; a cytoplasmic form of RTEL1 rescues RNP mislocalization. RTEL1-HHS patient cells, subcellular fractionation, immunofluorescence, splicing assays, ectopic expression of WT and mutant RTEL1 isoforms Nucleic acids research Medium 25628358
2018 RTEL1 depletion leads to loss of telomeric G-overhang content and decreased POT1 association with telomeres, causing telomere shortening in a telomerase-dependent manner; overexpression of POT1 restores telomere length but not the overhang, demonstrating that G-overhang preservation is the primary function of RTEL1 in facilitating telomerase-dependent elongation of long telomeres. siRNA depletion, telomere length assays, G-overhang quantification, ChIP for POT1, POT1 overexpression rescue Nucleic acids research Medium 29522136
2020 RTEL1 is required for mitotic DNA synthesis (MiDAS) at genome-wide loci prone to form G4-associated R-loops; this function depends on RTEL1 helicase activity; SLX4 is required for timely RTEL1 recruitment to affected loci, and RTEL1 in turn facilitates recruitment of RAD52 and POLD3 for MiDAS. RTEL1-depleted human cells, EdU incorporation during mitosis, RTEL1 ChIP, RAD52/POLD3 localization, SLX4 depletion epistasis, helicase-dead RTEL1 mutant Nature structural & molecular biology High 32398827
2020 SLX4 directly interacts with RTEL1 (an interaction abrogated by cancer- and HHS-associated mutations in each protein); both proteins co-localize at nascent DNA and active RNA Pol II sites; disrupting the SLX4-RTEL1 interaction causes DNA replication defects that are rescued by transcription inhibition, demonstrating that SLX4-RTEL1 cooperate to prevent replication-transcription conflicts. Co-immunoprecipitation, proximity ligation assay, iPOND (nascent DNA proteomics), transcription inhibition rescue, SLX4/RTEL1 interaction-defective mutants Nature structural & molecular biology High 32398829
2020 Loss of RTEL1 causes accumulation of R-loops at sites of active replication, elevates transcription-replication collisions (TRCs), and deregulates transcription of genes whose promoters contain G4-forming sequences; RNaseH1 overexpression suppresses TRCs and rescues global replication defects in Rtel1-/- and Rtel1-PIP mutant cells, supporting a model where RTEL1 unwinds G4-DNA/R-loops to avert TRCs. Rtel1-/- and PIP-box knockin mouse cells, R-loop detection (S9.6 immunofluorescence), RNA-seq, replication fork assays, RNaseH1 overexpression rescue Cell reports High 33357438
2020 RTEL1 forms a complex with the Polδ subunit Poldip3; both proteins are mutually dependent for chromatin binding after replication stress; loss of either causes R-loop accumulation confined to active replication sites and genomic instability in an epistatic manner, indicating they operate in a shared pathway for R-loop suppression at replication-transcription intersections. Proteomics (BioID/AP-MS), Co-immunoprecipitation, chromatin fractionation, R-loop detection (S9.6), DNA fiber assay, siRNA knockdown epistasis Genes & development High 32561545
2020 Full-length RTEL1 (specifically its C-terminus) is required for telomerase-dependent telomere elongation at the 3' overhang; inducible expression of WT RTEL1 in HHS patient fibroblasts rescues telomerase-dependent telomere elongation and suppresses abnormal cellular phenotypes, while silencing causes progressive shortening. Inducible ectopic expression of WT RTEL1 and C-terminal mutants in HHS patient fibroblasts, telomere length assays, telomerase activity assays Nucleic acids research Medium 32542379
2021 RTEL1 helicase influences the abundance and localization of TERRA RNA; RTEL1 depletion increases TERRA levels while reducing TERRA-containing R-loops at telomeres; in vitro, the C-terminal region of RTEL1 (independent of the helicase domain) binds G-quadruplex structures formed in TERRA; TERRA regulation by RTEL1 is essential for cell viability. RTEL1 siRNA depletion, TERRA quantification (slot blot/FISH), R-loop detection, in vitro G4-binding assay with RTEL1 C-terminal fragments, RNaseH1 overexpression, cell viability assays Nature communications High 34021146
2023 RTEL1 and MCM10 cooperate to promote fork convergence during replication termination under topological stress; both proteins are enriched on chromatin during fork convergence (by proteomics in Xenopus egg extracts) and their depletion impairs fork convergence and progression through a replication barrier, independent of topoisomerase activity. Xenopus egg extract replication system, iPOND-like chromatin proteomics during fork convergence, immunodepletion of RTEL1 and MCM10, DNA replication assays with topological stress Cell reports High 36807139
2023 A single amino acid variation in RTEL1 (naturally occurring in M. spretus) introduced into M. musculus is sufficient to reduce the telomere length set point in the germline to human-length telomeres, demonstrating a dominant role for this residue in RTEL1-mediated telomere length regulation. CRISPR knock-in mouse model (Telomouse), telomere length measurement by FISH/qPCR across generations, fertility and tissue phenotype analysis Nature communications High 37872177
2012 Transgenic mice ubiquitously overexpressing Rtel1 develop liver tumors (>70%) recapitulating hepatocellular carcinoma features, providing genetic evidence that RTEL1 amplification is tumorigenic. Conditional transgenic mouse model with Cre-excision-dependent Rtel1 overexpression, tumor incidence and pathology analysis Transgenic research Medium 22238064

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2020 Lisocabtagene maraleucel for patients with relapsed or refractory large B-cell lymphomas (TRANSCEND NHL 001): a multicentre seamless design study. Lancet (London, England) 1961 32888407
2014 Randomized trial of bendamustine-rituximab or R-CHOP/R-CVP in first-line treatment of indolent NHL or MCL: the BRIGHT study. Blood 528 24591201
2012 RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity. Cell 384 22579284
2015 Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nature genetics 383 25848748
2004 Epidemiology of non-Hodgkin's lymphoma (NHL): trends, geographic distribution, and etiology. Annals of hematology 378 15480663
2009 The TRIM-NHL protein TRIM32 activates microRNAs and prevents self-renewal in mouse neural progenitors. Cell 335 19269368
2008 RTEL1 maintains genomic stability by suppressing homologous recombination. Cell 307 18957201
2022 Non-viral, specifically targeted CAR-T cells achieve high safety and efficacy in B-NHL. Nature 291 36045296
2004 Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein. Cell 275 15210109
2013 RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication. Science (New York, N.Y.) 180 24115439
2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia. American journal of respiratory and critical care medicine 156 25607374
2024 Two-year follow-up of lisocabtagene maraleucel in relapsed or refractory large B-cell lymphoma in TRANSCEND NHL 001. Blood 150 37890149
2009 nhl-2 Modulates microRNA activity in Caenorhabditis elegans. Cell 148 19269369
2013 Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Human molecular genetics 144 23591994
2010 RTEL-1 enforces meiotic crossover interference and homeostasis. Science (New York, N.Y.) 143 20203049
2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. Molecular cell 134 25620558
2015 Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis. The European respiratory journal 133 26022962
2024 Epcoritamab monotherapy in patients with relapsed or refractory follicular lymphoma (EPCORE NHL-1): a phase 2 cohort of a single-arm, multicentre study. The Lancet. Haematology 127 38889737
2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. Proceedings of the National Academy of Sciences of the United States of America 123 23959892
2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PLoS genetics 110 24009516
2024 Epcoritamab in relapsed/refractory large B-cell lymphoma: 2-year follow-up from the pivotal EPCORE NHL-1 trial. Leukemia 109 39322711
2014 RTEL1: functions of a disease-associated helicase. Trends in cell biology 105 24582487
2012 The mammalian TRIM-NHL protein TRIM71/LIN-41 is a repressor of mRNA function. Nucleic acids research 104 23125361
2012 RTEL1 contributes to DNA replication and repair and telomere maintenance. Molecular biology of the cell 99 22593209
2010 Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 97 20368557
2010 RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination. Nucleic acids research 88 21097466
2017 Axicabtagene ciloleucel, a first-in-class CAR T cell therapy for aggressive NHL. Leukemia & lymphoma 86 29058502
2005 Rituximab (chimeric anti-CD20) sensitizes B-NHL cell lines to Fas-induced apoptosis. Oncogene 83 16103877
2015 TRIM-NHL proteins in development and disease. Seminars in cell & developmental biology 81 26514622
2023 Lisocabtagene Maraleucel in Relapsed/Refractory Mantle Cell Lymphoma: Primary Analysis of the Mantle Cell Lymphoma Cohort From TRANSCEND NHL 001, a Phase I Multicenter Seamless Design Study. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 79 38072625
2020 RTEL1 suppresses G-quadruplex-associated R-loops at difficult-to-replicate loci in the human genome. Nature structural & molecular biology 75 32398827
2014 The NHL domain of BRAT is an RNA-binding domain that directly contacts the hunchback mRNA for regulation. Genes & development 71 24696456
2009 Ten years of rituximab in NHL. Expert opinion on drug safety 70 19243307
2018 Venetoclax, bendamustine, and rituximab in patients with relapsed or refractory NHL: a phase Ib dose-finding study. Annals of oncology : official journal of the European Society for Medical Oncology 61 30060083
2019 Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes. The European respiratory journal 57 30523160
2013 Dual functional BAFF receptor aptamers inhibit ligand-induced proliferation and deliver siRNAs to NHL cells. Nucleic acids research 57 23470998
2015 Associations of non-Hodgkin Lymphoma (NHL) risk with autoimmune conditions according to putative NHL loci. American journal of epidemiology 55 25713336
2008 The NHL-domain protein Wech is crucial for the integrin-cytoskeleton link. Nature cell biology 50 18327251
2022 Impact of CD19 CAR T-cell product type on outcomes in relapsed or refractory aggressive B-NHL. Blood 49 35439295
2020 RTEL1 Regulates G4/R-Loops to Avert Replication-Transcription Collisions. Cell reports 48 33357438
2023 Peri-CAR-T practice patterns and survival predictors for all CAR-T patients and post-CAR-T failure in aggressive B-NHL. Blood advances 47 36094847
2020 Head-to-head comparison of in-house produced CD19 CAR-T cell in ALL and NHL patients. Journal for immunotherapy of cancer 47 32152221
2009 Rituximab-mediated cell signaling and chemo/immuno-sensitization of drug-resistant B-NHL is independent of its Fc functions. Clinical cancer research : an official journal of the American Association for Cancer Research 47 19861448
2025 Epcoritamab plus GemOx in transplant-ineligible relapsed/refractory DLBCL: results from the EPCORE NHL-2 trial. Blood 45 39792928
2021 RTEL1 influences the abundance and localization of TERRA RNA. Nature communications 45 34021146
2017 Clinical and Molecular Heterogeneity of RTEL1 Deficiency. Frontiers in immunology 44 28507545
2020 SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations. Nature structural & molecular biology 42 32398829
2018 Evolutionary plasticity of the NHL domain underlies distinct solutions to RNA recognition. Nature communications 38 29674686
2020 Human RTEL1 associates with Poldip3 to facilitate responses to replication stress and R-loop resolution. Genes & development 37 32561545
2020 Molecular and biological functions of TRIM-NHL RNA-binding proteins. Wiley interdisciplinary reviews. RNA 37 32738036
2019 Mature B-NHL in children, adolescents and young adults: current therapeutic approach and emerging treatment strategies. British journal of haematology 37 30613948
1995 Epstein-Barr virus (EBV) in extranodal T-cell non-Hodgkin's lymphomas (T-NHL). Identification of nasal T-NHL as a distinct clinicopathological entity associated with EBV. Leukemia & lymphoma 36 8580826
2015 CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility. Carcinogenesis 34 26014354
2004 [18F]3'-deoxy-3'-fluorothymidine-PET in NHL patients: whole-body biodistribution and imaging of lymphoma manifestations--a pilot study. Cancer biotherapy & radiopharmaceuticals 34 15453958
2019 Helicases FANCJ, RTEL1 and BLM Act on Guanine Quadruplex DNA in Vivo. Genes 32 31683575
2014 RTEL1 inhibits trinucleotide repeat expansions and fragility. Cell reports 32 24561255
2021 TNB-486 induces potent tumor cell cytotoxicity coupled with low cytokine release in preclinical models of B-NHL. mAbs 31 33818299
2020 Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase. Nucleic acids research 31 32542379
2013 The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains. Proteins 31 24130156
2009 TRIM-NHL proteins take on miRNA regulation. Cell 31 19269362
2013 RTEL1 tagging SNPs and haplotypes were associated with glioma development. Diagnostic pathology 30 23683922
2016 Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma. Journal of neuro-oncology 29 26839018
2020 CD19-directed CAR T-cell therapy in B-cell NHL. Current opinion in oncology 28 32740094
2017 Role of the microenvironment across histological subtypes of NHL. Hematology. American Society of Hematology. Education Program 27 29222311
2011 Pathology, pathogenesis and molecular genetics of follicular NHL. Best practice & research. Clinical haematology 26 21658611
2023 The many faces of the helicase RTEL1 at telomeres and beyond. Trends in cell biology 25 37532653
2019 Roles of RAD51 and RTEL1 in telomere and rDNA stability in Physcomitrella patens. The Plant journal : for cell and molecular biology 25 30834585
2013 Killing of CLL and NHL cells by rituximab and ofatumumab under limited availability of complement. Medical oncology (Northwood, London, England) 25 24198205
2024 Impact of race and social determinants of health on outcomes in patients with aggressive B-cell NHL treated with CAR-T therapy. Blood advances 24 38531057
2023 Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1. Nature communications 24 37872177
2012 Generation of a mouse model for studying the role of upregulated RTEL1 activity in tumorigenesis. Transgenic research 24 22238064
2020 An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency. Journal of clinical immunology 23 32710398
2018 Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension. Nucleic acids research 23 29522136
2023 RTEL1 and MCM10 overcome topological stress during vertebrate replication termination. Cell reports 22 36807139
2021 TRIM-NHL as RNA Binding Ubiquitin E3 Ligase (RBUL): Implication in development and disease pathogenesis. Biochimica et biophysica acta. Molecular basis of disease 22 33418035
2018 NHL in adolescents and young adults: A unique population. Pediatric blood & cancer 22 29741220
2016 Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations. Blood advances 22 29296694
2015 Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA. Nucleic acids research 22 25628358
2015 Analysis of difference of association between polymorphisms in the XRCC5, RPA3 and RTEL1 genes and glioma, astrocytoma and glioblastoma. American journal of cancer research 22 26328260
2023 PI3k Inhibitors in NHL and CLL: An Unfulfilled Promise. Blood and lymphatic cancer : targets and therapy 19 36919100
2018 RAD51 and RTEL1 compensate telomere loss in the absence of telomerase. Nucleic acids research 19 29346668
2007 Should adolescents with NHL be treated as old children or young adults? Hematology. American Society of Hematology. Education Program 19 18024643
2002 Intensive chemotherapy with hematopoietic stem-cell support for children with recurrent or refractory NHL. Cytotherapy 19 12194721
2023 CSNK2 suppresses autophagy by activating FLN-NHL-containing TRIM proteins. Autophagy 18 37938186
2022 Herbicide use in farming and other jobs in relation to non-Hodgkin's lymphoma (NHL) risk. Occupational and environmental medicine 17 36207110
2015 Associations between statin use and non-Hodgkin lymphoma (NHL) risk and survival: a meta-analysis. Hematological oncology 17 26482323
2014 Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. Clinical genetics 17 25047097
2023 Simultaneous activation of Tor and suppression of ribosome biogenesis by TRIM-NHL proteins promotes terminal differentiation. Cell reports 16 36870055
2022 Clinical characteristics and outcomes of newly diagnosed patients with HIV-associated aggressive B-cell NHL in China. Journal of cellular and molecular medicine 16 36056692
2020 WD40 protein Wuho controls germline homeostasis via TRIM-NHL tumor suppressor Mei-p26 in Drosophila. Development (Cambridge, England) 16 31941704
2022 The Future of Natural Killer Cell Immunotherapy for B Cell Non-Hodgkin Lymphoma (B Cell NHL). Current treatment options in oncology 15 35258793
2003 The role of nuclear medicine in the treatment of non-Hodgkin's lymphoma (NHL). Leukemia & lymphoma 15 15154740
2015 Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study. Medical science monitor : international medical journal of experimental and clinical research 14 26156397
2013 Relapsed and refractory aggressive NHL: time for a change. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 14 23835116
2003 Radioimmunotherapy for NHL: experience of 90Y-ibritumomab tiuxetan in clinical practice. Leukemia & lymphoma 14 15154741
2002 Autologous and allogeneic transplantation for aggressive NHL. Cytotherapy 14 12194719
2017 Association between regulator of telomere elongation helicase1 (RTEL1) gene and HAPE risk: A case-control study. Medicine 13 28953687
2015 B-cell receptor pathway modulators in NHL. Hematology. American Society of Hematology. Education Program 13 26637705
2024 FNC (4'-azido-2'-deoxy-2'-fluoro(arbino)cytidine) as an Effective Therapeutic Agent for NHL: ROS Generation, Cell Cycle Arrest, and Mitochondrial-Mediated Apoptosis. Cell biochemistry and biophysics 12 38253918
2021 KLF4 inhibition by Kenpaullone induces cytotoxicity and chemo sensitization in B-NHL cell lines via YY1 independent. Leukemia & lymphoma 12 33410342

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