Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Elena G Arias-SalgadoEva GalvezLurdes Planas-CerezalesLaura Pintado-BerninchesElena VallespinPilar MartinezJaime CarrilloLaura IarriccioAnna Ruiz-LlobetAlbert CataláIsabel Badell-SerraLuis I Gonzalez-GranadoAndrea Martín-NaldaMónica Martínez-GalloAna Galera-MiñarroCarmen Rodríguez-VigilMariana Bastos-OreiroGuiomar Perez de NanclaresVirginia Leiro-FernándezMaria-Luz UriaCristina Diaz-HerediaClaudia ValenzuelaSara MartínBelén López-MuñizPablo LapunzinaJulian SevillaMaría Molina-MolinaRosario PeronaLeandro SastrePublished in: Orphanet journal of rare diseases (2019)
Novel variants in telomere, DNA repair and replication genes are described that might indicate the contribution of variants in these genes to the development of telomeropathies. Patients carrying variants in telomere-related genes presented worse evolution after diagnosis than the rest of patients analyzed.
Keyphrases
- genome wide analysis
- dna repair
- end stage renal disease
- idiopathic pulmonary fibrosis
- dna damage
- chronic kidney disease
- ejection fraction
- newly diagnosed
- copy number
- prognostic factors
- peritoneal dialysis
- genome wide
- gene expression
- patient reported outcomes
- dna methylation
- oxidative stress
- interstitial lung disease
- systemic sclerosis
- acute lymphoblastic leukemia
- bioinformatics analysis