Recombinant Human Regulator of telomere elongation helicase 1 (RTEL1), partial

1. Observation are firstly, heterozygous LOF RTEL1 variants are associated with myelodysplasia and liver disease in adulthood. Secondly, biallelic RTEL1 variants can present with just bone marrow failure in adulthood. Thirdly, many heterozygous variants, and even some biallelic RTEL1 variants, are bystanders. PMID: 28495916
2. a novel association signal in the RTEL1 gene (intronic single nucleotide poly morphism (SNP) rs2297439; P=2.82x10(-7)) that is independent of previously reported Telomere-associated SNPs in this region. PMID: 29151059
3. Findings suggest a potential association between regulator of telomere elongation helicase 1 (RTEL1) polymorphisms and lung cancer (LC) risk in a Chinese Han population. PMID: 27765928
4. Pulmonary fibrosis patients with mutations in telomerase reverse transcriptase, telomerase RNA component, regulator of telomere elongation helicase 1 and poly(A)-specific ribonuclease were identified and clinical data were analysed. Genetic mutations in telomere related genes lead to a variety of interstitial lung disease diagnoses that are universally progressive. PMID: 27540018
5. promoter methylated in 51.4% of lung cancer patients and in 8.8% of healthy individuals PMID: 27485611
6. The allele "G" of rs6089953 and rs6010621 and the allele "A" of rs2297441 were associated with decreased risk of High altitude pulmonary edema, haplotype "GG, GT, AT" of rs6089953-rs6010621 were detected significantly associated with High altitude pulmonary edema risk in the Chinese population. PMID: 28953687
7. SNPs in the RTEL1 are associated with COPD in a Chinese Han population. It is possible that these variants are COPD risk factors. PMID: 28360516
8. This meta-analysis demonstrates that the RTEL1 rs2297440 polymorphism plays a moderate, but significant role in the risk of glioma. PMID: 26939676
9. Genetic risk variants in the RTEL1 gene is associated with somatic biomarkers in glioma. PMID: 26839018
10. Deletion in the RTEL1 gene is associated with metastatic glioblastoma. PMID: 26803811
11. Telomere length is associated with Esophageal squamous cell carcinoma risk in a U-shaped pattern and demonstrates that TL-SNPs may not be important in carcinogenesis in Chinese population. PMID: 26581417
12. Heterozygous RTEL1 mutations are responsible for familial pulmonary fibrosis (FPF) and, thereby, extend the clinical spectrum of RTEL1 deficiency. Thus, RTEL1 enlarges the number of telomere-associated genes implicated in FPF. PMID: 26022962
13. results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population PMID: 26156397
14. A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. PMID: 26025130
15. RTEL1 single nucleotide polymorphisms are associated with decreased susceptibility to pediatric brain astrocytoma. PMID: 26014354
16. Association between the RTEL1 rs6010620 polymorphism and glioma risk was significant. [Meta-Analysis] PMID: 25556444
17. PARN and RTEL1 mutation carriers had shortened leukocyte telomere lengths. PMID: 25848748
18. This work unravels completely unanticipated roles for RTEL1 in RNP trafficking and strongly suggests that defects in RNP biogenesis pathways contribute to the pathology of Hoyeraal-Hreidarsson syndrome PMID: 25628358
19. rs6010620 polymorphism in the RTEL1 gene is associated with increased risk of glioma in both Caucasians and Asians. [Meta-Analysis] PMID: 25227808
20. Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP, supporting the importance of telomere-related pathways in pulmonary fibrosis. PMID: 25607374
21. The shelterin protein TRF2 recruits RTEL1 to telomeres in S phase, which is required to prevent catastrophic t-loop processing by structure-specific nucleases. PMID: 25620558
22. Authors propose that RTEL1 serves as a human analog of Srs2 to inhibit (CTGCAG) repeat expansions and fragility, likely by unwinding problematic hairpins. PMID: 24561255
23. The C-terminal extension of RTEL1, downstream of its catalytic domain and including several HHS-associated mutations, contains a yet unidentified tandem of harmonin-N-like domains. PMID: 24130156
24. suggested that RTEL1 rs6010620 polymorphism is likely to be associated with increased glioma risk, which lends further biological plausibility to these findings PMID: 24523019
25. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. PMID: 24009516
26. Results indicate the potential roles of regulator of telomere elongation helicase 1 (RTEL1) and telomerase reverse transcriptase (TERT) in astrocytoma development. PMID: 23812731
27. results identify RTEL1 as a novel Hoyeraal-Hreidarsson syndrome-causing gene and highlight its role as a genomic caretaker in humans. PMID: 23591994
28. Data show that RTEL1 interacts with the shelterin protein TRF1, indicating a potential recruitment mechanism of RTEL1 to telomeres. PMID: 23959892
29. Two significant Ten candidate tagging SNPs in RTEL1 gene were observed to be associated with glioma risk PMID: 23683922
30. These biallelic RTEL1 mutations are responsible for a major subgroup ( approximately 29%) of HHS. PMID: 23453664
31. The nonsense mutations both cause truncation of the RTEL1 protein, resulting in loss of the PIP box; this may abrogate an important protein-protein interaction. These findings implicate a new telomere biology gene, RTEL1, in the etiology of DC. PMID: 23329068
32. rs6010620 (RTEL1) was associated with an increased risk of glioma when restricting to cases with family history of brain tumours. PMID: 23115063
33. rs6010620 a genetic variant of RTEL1, was one of 3 genetic variants implicated in a pool of US epidemiologic studies of glioma risk PMID: 21920947
34. SUSCEPTIBILITY LOCI FOR GLIOMA AND GLIOBLASTOMA RISK IN A CHINESE POPULATION INCLUDED RTEL1 PMID: 21350045
35. Polymorphisms in the LIG4, BTBD2, HMGA2, and RTEL1 genes, which are involved in the double-strand break repair pathway, are associated with glioblastoma multiforme survival. PMID: 20368557
36. Study finds that rtel-1 mutant worms and RTEL1-depleted human cells share characteristic phenotypes with yeast srs2 mutants: lethality upon deletion of the sgs1/BLM homolog, hyperrecombination, and DNA damage sensitivity.[RTEL1] PMID: 18957201
37. On 9p21, rs1412829 near CDKN2B had discovery P = 3.4 x 10(-8), replication P = 0.0038 and combined P = 1.85 x 10(-10). On 20q13.3, rs6010620 intronic to RTEL1 had discovery P = 1.5 x 10(-7), replication P = 0.00035 and combined P = 3.40 x 10(-9). PMID: 19578366
38. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 19578367

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HGNC: 15888

OMIM: 608833

KEGG: hsa:51750

STRING: 9606.ENSP00000359035

UniGene: Hs.745057