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RTEL1 gene

Known as: CHROMOSOME 20 OPEN READING FRAME 41, RTEL1, TELOMERE LENGTH REGULATOR 
National Institutes of Health

Related topics

Related topics

3 relations

Broader (1)

Genes
TNFRSF6B geneTNFRSF6B wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
The Possible Pathogenesis of Idiopathic Pulmonary Fibrosis considering MUC5B
Background Overexpression of the MUC5B protein is associated with idiopathic pulmonary fibrosis (IPF), but little information is… Expand
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2017
2017
Clinical and Molecular Heterogeneity of RTEL1 Deficiency
Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF… Expand
Highly Cited
2016
Highly Cited
2016
Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive
Heterozygous mutations in four telomere-related genes have been linked to pulmonary fibrosis, but little is known about… Expand
Highly Cited
2015
Highly Cited
2015
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
RATIONALE Up to 20% of cases of idiopathic interstitial pneumonia cluster in families, comprising the syndrome of familial… Expand
Highly Cited
2015
Highly Cited
2015
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
Pulmonary fibrosis is a fatal disease with progressive loss of respiratory function. Defective telomere maintenance leading to… Expand
2015
2015
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA
Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone… Expand
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2014
2014
The Arabidopsis thaliana Homolog of the Helicase RTEL1 Plays Multiple Roles in Preserving Genome Stability[C][W]
A helicase is required to preserve genome stability in plants, which is likely due to its role in destabilizing various types of… Expand
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Highly Cited
2013
Highly Cited
2013
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome
Significance Telomeres protect the ends of eukaryotic chromosomes. Telomeres shorten with age and serve as a biological clock… Expand
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Highly Cited
2012
Highly Cited
2012
Genome-wide association study of glioma and meta-analysis
Gliomas account for approximately 80 % of all primary malignant brain tumors and, despite improvements in clinical care over the… Expand
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Highly Cited
2004
Highly Cited
2004
Regulation of Murine Telomere Length by Rtel An Essential Gene Encoding a Helicase-like Protein
Little is known about the genes that regulate telomere length diversity between mammalian species. A candidate gene locus was… Expand
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