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In mice, inactivation of the Rtel (regulator of telomere length) gene has been shown to cause chromosome breaks, fusions, and telomere loss. 再加上，我们可以发 和 和数多这个蛋白质的别的产品。
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The RTEL1 homolog in Arabidopsis thaliana plays multiple roles in preserving genome stability.
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.
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.
Findings suggest a potential association between regulator of telomere elongation helicase 1 (RTEL1) polymorphisms and lung cancer (LC) risk in a Chinese Han population.
Pulmonary fibrosis patients with mutations in telomerase reverse transcriptase (显示 TERT 抗体), telomerase RNA component, regulator of telomere elongation helicase 1 and poly(A)-specific ribonuclease (显示 PARN 抗体) 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.
SNPs in the RTEL1 are associated with COPD (显示 ARCN1 抗体) in a Chinese Han population. It is possible that these variants are COPD (显示 ARCN1 抗体) risk factors.
This meta-analysis demonstrates that the RTEL1 rs2297440 polymorphism plays a moderate, but significant role in the risk of glioma.
Genetic risk variants in the RTEL1 gene is associated with somatic biomarkers in glioma.
Deletion in the RTEL1 gene is associated with metastatic glioblastoma.
Heterozygous RTEL1 mutations are responsible for familial pulmonary fibrosis (FPF (显示 TNFRSF1A 抗体)) and, thereby, extend the clinical spectrum of RTEL1 deficiency. Thus, RTEL1 enlarges the number of telomere-associated genes implicated in FPF (显示 TNFRSF1A 抗体).
results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population
RTEL1 plays a critical role in both telomere and genome-wide replication, which is crucial for genetic stability and tumor avoidance.
Upregulated RTEL1 is tumorigenic and is able to initiate the formation of hepatocellular carcinoma in mice.
RTEL1 performs two distinct functions at telomeres: it disassembles T loops and also counteracts telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.
Cloned a bovine regulator of telomere length elongation helicase (显示 DNA2 抗体) (RTEL) homolog and characterized its gene structure, expression distribution, splice variants and profile of DNA methylation (显示 HELLS 抗体) around two putative transcription start sites.
In mice, inactivation of the Rtel (regulator of telomere length) gene has been shown to cause chromosome breaks, fusions, and telomere loss. In addition, Rtel is required for telomere elongation. Therefore, the mouse Rtel gene regulates chromosome stability and telomere length. This gene is the human ortholog of the mouse Rtel gene, so its protein product may play similar roles in humans. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), generates a non-coding transcript. Multiple transcript variants encoding different isoforms have been described for this gene.
regulator of telomere elongation helicase 1
, helicase-like protein NHL
, regulator of telomere length
, DEAH helicase
, regulator of telomere length helicase 1