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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. Additionally we are shipping and many more products for this protein.
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The RTEL1 homolog in Arabidopsis thaliana plays multiple roles in preserving genome stability.
Deletion in the RTEL1 gene is associated with metastatic glioblastoma.
Heterozygous RTEL1 mutations are responsible for familial pulmonary fibrosis (FPF (show TNFRSF1A Antibodies)) and, thereby, extend the clinical spectrum of RTEL1 deficiency. Thus, RTEL1 enlarges the number of telomere-associated genes implicated in FPF (show TNFRSF1A Antibodies).
results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
RTEL1 single nucleotide polymorphisms are associated with decreased susceptibility to pediatric brain astrocytoma.
Association between the RTEL1 rs6010620 polymorphism and glioma risk was significant. [Meta-Analysis]
PARN (show PARN Antibodies) and RTEL1 mutation carriers had shortened leukocyte telomere lengths.
This work unravels completely unanticipated roles for RTEL1 in RNP (show RNPC3 Antibodies) trafficking and strongly suggests that defects in RNP (show RNPC3 Antibodies) biogenesis pathways contribute to the pathology of Hoyeraal-Hreidarsson syndrome
rs6010620 polymorphism in the RTEL1 gene is associated with increased risk of glioma in both Caucasians and Asians. [Meta-Analysis]
Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP (show USF2 Antibodies), supporting the importance of telomere-related pathways in pulmonary fibrosis.
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 (show DNA2 Antibodies) (RTEL) homolog and characterized its gene structure, expression distribution, splice variants and profile of DNA methylation (show HELLS Antibodies) 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