Familial Interstitial Lung Disease.
Sign Up to like & getrecommendations! Published in 2020 at "Seminars in respiratory and critical care medicine"
DOI: 10.1055/s-0040-1708054
Abstract: The interstitial lung diseases (ILDs) are a group of progressive disorders characterized by chronic inflammation and/or fibrosis in the lung. While some ILDs can be linked to specific environmental causes (i.e., asbestosis, silicosis), in many… read more here.
Keywords: familial interstitial; lung disease; disease; interstitial lung ... See more keywords
Incidence and Progression of Fibrotic Lung Disease in an At-Risk Cohort.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of respiratory and critical care medicine"
DOI: 10.1164/rccm.202206-1075oc
Abstract: RATIONALE Relatives of patients with familial interstitial pneumonia are at increased risk for pulmonary fibrosis, and develop preclinical pulmonary fibrosis (PrePF). OBJECTIVES We defined the incidence and progression of new onset PrePF; its relationship to… read more here.
Keywords: incidence; familial interstitial; risk; interstitial pneumonia ... See more keywords
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia
Sign Up to like & getrecommendations! Published in 2018 at "BMC Bioinformatics"
DOI: 10.1186/s12859-018-2010-z
Abstract: BackgroundNext-generation sequencing of individuals with genetic diseases often detects candidate rare variants in numerous genes, but determining which are causal remains challenging. We hypothesized that the spatial distribution of missense variants in protein structures contains… read more here.
Keywords: missense variants; familial interstitial; patients familial; rtel1 ... See more keywords
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00650
Abstract: We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a combination of facial dysmorphisms, ear abnormalities with hearing loss, and shoulder… read more here.
Keywords: familial interstitial; 6q23 deletion; deletion; otofaciocervical syndrome ... See more keywords