Article

A Novel Rtel1 Nonsense Variant in a Case of Familial Pulmonary Fibrosis

2025-08-12

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease, often linked to telomere-related gene (TRG) mutations in familial forms. <bold>Case presentation</bold> We report a 72-year-old woman with a family history of pulmonary fibrosis and premature hair greying. Genetic testing identified a novel heterozygous nonsense variant in Regula...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ce1cfefa-4bc2-5f50-8bfe-98b7cf29744d
DOI: 10.21203/rs.3.rs-7160906/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel Rtel1 Nonsense Variant in a Case of Familial Pulmonary FibrosisDOI 10.21203/rs.3.rs-7160906/v1Read

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.Semantic proximity Read

A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis.Semantic proximity Read

Rare variants in RTEL1 are associated with familial interstitial pneumonia.Semantic proximity Read

Germline RTEL1 Variants in Telomere Biology Disorders.Semantic proximity Read

Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.Semantic proximity Read

A Rare Missense Variant in Telomerase Reverse Transcriptase is Associated with Idiopathic Pulmonary Fibrosis in a Chinese Han Family.Semantic proximity Read

Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypesSemantic proximity Read

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenitaSemantic proximity Read

The Genetic and Epigenetic Footprint in Idiopathic Pulmonary Fibrosis and Familial Pulmonary Fibrosis: A State-of-the-Art ReviewSemantic proximity Read

Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.Semantic proximity Read

A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.Semantic proximity Read

Idiopathic pulmonary fibrosis: update on genetic discoveries.Semantic proximity Read