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Naslov:Utility of telomerase gene mutation testing in patients with idiopathic pulmonary fibrosis in routine practice
Avtorji:Šelb, Julij (Avtor)
Osolnik, Katarina (Avtor)
Kern, Izidor (Avtor)
Korošec, Peter (Avtor)
Rijavec, Matija (Avtor)
Jezik:Angleški jezik
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:Logo UKPBAG - Univerzitetna klinika za pljučne bolezni in alergijo Golnik
Povzetek:Recent studies have suggested that causative variants in telomerase complex genes (TCGs) are present in around 10% of individuals with idiopathic pulmonary fibrosis (IPF) regardless of family history of the disease. However, the studies used a case-control rare variant enrichment study design which is not directly translatable to routine practice. To validate the prevalence results and to establish the individual level, routine clinical practice, and utility of those results we performed next generation sequencing of TCGs on a cohort of well-characterized consecutive individuals with IPF (diagnosis established according to ATS/ERS/JRS/ALAT guidelines). Of 27 IPF patients, three had a family history of idiopathic interstitial pneumonia (familial IPF) and 24 did not (sporadic IPF). Pathogenic/likely-pathogenic variants (according to American College of Medical Genetics criteria) in TCG were found in three individuals (11.1%) of the whole cohort; specifically, they were present in 2 out of 24 (8.3%) of the sporadic and in 1 out of 3 (33.3%) of the patients with familial IPF. Our results, which were established on an individual-patient level study design and in routine clinical practice (as opposed to the case-control study design), are roughly in line with the around 10% prevalence of causative TCG variants in patients with IPF.
Ključne besede:telomerase, idiopathic pulmonary fibrosis, genetic variation, telomerase complex
Leto izida:2022
Založnik:MDPI
Izvor:Švica
UDK:575
ISSN pri članku:2073-4409
COBISS_ID:94898435 Povezava se odpre v novem oknu
DOI:10.3390/cells11030372 Povezava se odpre v novem oknu
Opombe:Nasl. z nasl. zaslona; Soavtorji: Katarina Osolnik, Izidor Kern, Peter Korošec, Matija Rijavec; Opis vira z dne 25. 1. 2022;
Število ogledov:225
Število prenosov:86
Datoteke:.pdf PDF - Predstavitvena datoteka, prenos (236,11 KB)
 
Nadgradivo:Cells
MDPI
 
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
Avtorske pravice:© 2022 by the authors
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Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Začetek licenciranja:22.01.2022

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