Telomeres revisited: RTEL1 variants in pulmonary fibrosis
| العنوان: | Telomeres revisited: RTEL1 variants in pulmonary fibrosis |
|---|---|
| المؤلفون: | Jonathan A. Kropski, James E. Loyd |
| المصدر: | European Respiratory Journal. 46:312-314 |
| بيانات النشر: | European Respiratory Society (ERS), 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Male, Pulmonary and Respiratory Medicine, Genetics, 0303 health sciences, Telomere Pathway, DNA Helicases, Genetic variants, Disease, Biology, medicine.disease, Idiopathic Pulmonary Fibrosis, 3. Good health, Telomere, 03 medical and health sciences, Idiopathic pulmonary fibrosis, 0302 clinical medicine, 030228 respiratory system, Pulmonary fibrosis, medicine, Humans, Female, Gene, Telomere Shortening, Telomere elongation, 030304 developmental biology |
| الوصف: | For decades, it has been recognised that cases of pulmonary fibrosis cluster in families. While previous studies have implicated mutations in several surfactant-related proteins [1–3] and telomere-related genes [4–12], in most families the genetic basis of their disease has remained uncertain [13]. In this issue of the European Respiratory Journal , Kannengiesser et al. [14] report that rare genetic variants in regulator of telomere elongation helicase 1 ( RTEL1 ) are associated with familial pulmonary fibrosis (FPF). Coupled with two other recent reports [7, 10], this work suggests that mutations in RTEL1 represent an important genetic cause of pulmonary fibrosis, responsible for disease in approximately 6% of families. Mutations in the telomere pathway gene RTEL1 represent an important cause of familial pulmonary fibrosis |
| تدمد: | 1399-3003 0903-1936 |
| DOI: | 10.1183/13993003.00710-2015 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::184d38a2cd686a59a74fc09003077341 https://doi.org/10.1183/13993003.00710-2015 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....184d38a2cd686a59a74fc09003077341 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13993003 09031936 |
|---|---|
| DOI: | 10.1183/13993003.00710-2015 |