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GENE:

RECQL4( RecQ Like Helicase 4)

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Other names: RECQL4, RecQ Like Helicase 4, ATP-Dependent DNA Helicase Q4, RecQ Helicase-Like 4, RecQ Protein-Like 4, RECQ4, DNA Helicase RecQ-Like Type 4, DNA Helicase RecQ-Like Type 4, RecQ4, RTS
12d
Targeted gene sequencing and bioinformatics analysis of a patient with gallbladder adenosquamous carcinoma: a case report. (PubMed, Front Oncol)
Comparative analyses with other gallbladder carcinoma subtypes revealed GBASC to have distinct clinical phenotypes, molecular alterations, functional characteristics, and enriched signaling pathways. Moreover, there is an urgent need for standardized treatment protocols.
Journal • Tumor mutational burden • IO biomarker
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EGFR (Epidermal growth factor receptor) • TMB (Tumor Mutational Burden) • KMT2A (Lysine Methyltransferase 2A) • KMT2D (Lysine Methyltransferase 2D) • NF2 (Neurofibromin 2) • CDK6 (Cyclin-dependent kinase 6) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • LATS2 (Large Tumor Suppressor Kinase 2) • RECQL4( RecQ Like Helicase 4) • EXT1 (Exostosin Glycosyltransferase 1)
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EGFR mutation • ATM mutation
21d
Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant. (PubMed, Klin Padiatr)
Our findings highlight the value of combining dermatological, radiological, and molecular assessments for accurate diagnosis and counseling. The recurrence of the same variant in unrelated families from one region suggests a founder effect.
Journal
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DRD (DNA Repair Deficiency) • RECQL4( RecQ Like Helicase 4)
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DDR
1m
RECQL4 promotes the malignant progression of lung adenocarcinoma through the YBX1/G3BP1-mediated NF-κB signaling pathway. (PubMed, Cell Death Discov)
In conclusion, RECQL4 promotes the malignant progression of LUAD through the YBX1/G3BP1-mediated NF-κB signaling pathway. These findings suggest that RECQL4 has the potential to serve as a novel prognostic biomarker and an effective therapeutic target for LUAD.
Journal
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YBX1 (Y-Box Binding Protein 1) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4) • G3BP1 (G3BP Stress Granule Assembly Factor 1)
2ms
EGR3 as a dual tumor-immune regulator: a machine learning-driven prognostic target for cold breast cancer. (PubMed, Front Immunol)
Our integrative framework established a machine learning-optimized 3-gene prognostic model with cross-platform reliability. EGR3 was validated as a dual-function regulator of tumor suppression and immunomodulation, offering a novel therapeutic target for breast cancer, particularly in immunologically "cold" triple-negative subtypes.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • CD8 (cluster of differentiation 8) • LAG3 (Lymphocyte Activating 3) • TIGIT (T Cell Immunoreceptor With Ig And ITIM Domains 2) • MMP1 (Matrix metallopeptidase 1) • RECQL4( RecQ Like Helicase 4)
2ms
Novel mutations in the RECQL4 gene affect its helicase functions, interactions with the BLM helicase and chemotherapeutics-induced cell death. (PubMed, Cell Death Discov)
Our results reveal deleterious consequences of novel RECQL4 mutations in GBMs. The newly identified RECQL4 mutations affect RECQL4 helicases and their interactions with BLM contributing to glioma progression.
Journal
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RECQL4( RecQ Like Helicase 4)
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TP53 mutation
2ms
PD14 The first documented case of Rothmund-Thomson syndrome with ultraviolet B photosensitivity confirmed by phototesting. (PubMed, Br J Dermatol)
J Dermatol Dermatol Surg 2020; 24: 5-12). This highlights the need to consider routine phototesting in this patient demographic to better define their thresholds and tailor a more personalized photoprotective treatment plan accordingly.
Journal
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RECQL4( RecQ Like Helicase 4)
3ms
Anesthetic Management of a Child With Rothmund-Thomson Syndrome for Major Orthopedic Surgery. (PubMed, Cureus)
This case highlights key perioperative considerations, outlines the main aspects of our anesthetic approach, and represents the first report of anesthesia for major orthopedic surgery in a patient with RTS. It emphasizes the importance for anesthesiologists to understand the multisystemic manifestations of this disorder, to engage in careful preoperative planning, as well as the need for disease-specific anesthetic guidelines to ensure safe and optimized perioperative care.
Journal
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RECQL4( RecQ Like Helicase 4)
3ms
RECQL4 alterations in gliomas and nerve sheath tumors: Expression patterns and therapeutic implications. (PubMed, J Neuropathol Exp Neurol)
RECQL4 knockdown in glioma and MPNST cell lines resulted in increased apoptosis and susceptibility to ATR-inhibitors. Our findings show that RECQL4 expression has divergent patterns across tumor types and that targeting RECQL4 may dampen tumor survival and enhance susceptibility to ATR inhibitor therapy in CNS tumors.
Journal
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NF1 (Neurofibromin 1) • RECQL4( RecQ Like Helicase 4)
3ms
SF3B6 promotes the oncogenic phenotypes of MDA-MB-231 cells by extensively interacting with and regulating transcripts expression and alternative splicing. (PubMed, Sci Rep)
Further analysis showed that SF3B6 potentially contributes to the malignant properties of TNBC by regulating the expression and splicing of key oncogenes, including PPM1F and FASN, and tumor suppressor genes, including RLF and RECQL4, which were validated by RT-qPCR experiment. In summary, this study highlights the crucial molecular role of SF3B6 in breast cancer cells, providing new insights into its potential as a biomarker or valuable target in breast cancer diagnosis and treatment in future.
Journal
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FASN (Fatty acid synthase) • RECQL4( RecQ Like Helicase 4)
4ms
RECQL4 as a novel drug target against ovarian cancer. (PubMed, Biochem Pharmacol)
The molecular mechanism of TC12-1 targeting RECQL4 in anti-ovarian epithelial cell carcinoma involves the regulation of key genes such as γ-H2AX, PRPA32, ATM, RAD50, CHK2, P53, P21, Bax, CyclinE, and CDC2, thereby affecting the cell cycle and DNA replication signaling pathways. The results provide theoretical support for developing specific ovarian cancer therapeutic drugs using RECQL4 as a new target.
Journal
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CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • CDK1 (Cyclin-dependent kinase 1) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4)
4ms
Plasma exosomal lncRNA-related signatures define molecular subtypes and predict survival and treatment response in hepatocellular carcinoma. (PubMed, Front Immunol)
Risk model analysis predicted differential treatment responses: low-risk patients exhibited superior anti-PD-1 immunotherapy responses, whereas high-risk patients showed increased sensitivity to DNA-damaging agents (e.g., the Wee1 inhibitor MK-1775) and sorafenib. Plasma exosomal lncRNAs enable robust molecular subtyping, accurate prognostic stratification, and treatment response prediction in HCC. The ERG-centric classification system and validated 6-gene risk model provide clinically actionable tools for precision oncology.
Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • TTN (Titin) • TGFB1 (Transforming Growth Factor Beta 1) • ADH1C (Alcohol Dehydrogenase 1C (Class I), Gamma Polypeptide) • MCM4 (Minichromosome Maintenance Complex Component 4) • NDRG1 (N-Myc Downstream Regulated 1) • RECQL4( RecQ Like Helicase 4) • KIF20A (Kinesin Family Member 20A)
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PD-L1 expression • TP53 mutation
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sorafenib • adavosertib (AZD1775)
5ms
Shared and non-overlapping functions of RECQL4 and BLM helicases in chemotherapeutics-induced glioma cell responses. (PubMed, BMC Cancer)
Our results highlight the distinct roles of RecQ helicases in a response to chemotherapeutics and support a rationale for targeting RECQL4 as a therapeutic strategy in glioblastoma.
Journal • PARP Biomarker
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RECQL4( RecQ Like Helicase 4)
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Lynparza (olaparib) • temozolomide • doxorubicin hydrochloride • berubicin (RTA 744)