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- W2904005489 abstract "Interstitial lung diseases (ILDs), also known as diffuse parenchymal lung diseases, refer to a diverse set of pathologies affecting the tissue and space around the alveoli. Idiopathic pulmonary fibrosis (IPF), the most common form of the idiopathic interstitial pneumonias (IIPs), is characterized by relentless scarring of the lung parenchyma and by a poor prognosis. Median survival from the time of diagnosis is 3 years (1,2), and there are few available treatments and no known cure (3–6). Despite decades of research, the aetiology of IPF remains a topic of controversy with many hypotheses focusing on aberrant behaviour of injured alveolar epithelial cells (7). However, more recent investigations have identified numerous rare variants (8–10), common genetic variants (11–13), transcriptional changes (14–17) and epigenetic changes (18) associated with IPF, leading to new hypotheses regarding disease pathogenesis. This chapter focuses on our current understanding of the genetics and genomics of IPF, how these discoveries have changed our understanding of the disease, how genetics and genomics might influence patient management and how they could influence future studies in the field." @default.
- W2904005489 created "2018-12-22" @default.
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- W2904005489 date "2017-11-03" @default.
- W2904005489 modified "2023-09-26" @default.
- W2904005489 title "Genetics and genomics of idiopathic pulmonary fibrosis" @default.
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- W2904005489 doi "https://doi.org/10.1201/9781315154046-4" @default.
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