Ontology highlight
ABSTRACT:
SUBMITTER: Dobrinskikh E
PROVIDER: S-EPMC8410112 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Dobrinskikh Evgenia E Estrella Alani M AM Hennessy Corinne E CE Hara Naoko N Schwarz Marvin I MI Kurche Jonathan S JS Yang Ivana V IV Schwartz David A DA
American journal of physiology. Lung cellular and molecular physiology 20210623 2
Idiopathic pulmonary fibrosis (IPF) is an incurable genetic disease that affects 5 million people worldwide. The gain-of-function <i>MUC5B</i> promoter variant rs35705950 is the dominant genetic risk factor for IPF, yet has a low penetrance. This raises the possibility that other genes and transcripts affect the penetrance of <i>MUC5B</i>. Previously, we have shown that the concentration of Muc5b in bronchoalveolar epithelia is directly associated with the extent and persistence of bleomycin-ind ...[more]