Genetic Interstitial Lung Disease

Christine Kim Garcia

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Technological advances have led to an explosion of genetic discoveries, shedding new light on the underlying pathogenesis of interstitial lung disease (ILD). Identification of the genetic etiology provides a molecular explanation for the ILD and other patient phenotypes. The goal of this chapter is to summarize (1) genetic syndromes involving multiple organs, in which ILD is one of many different phenotypes and (2) genetic disorders in which ILD is the dominant phenotype. Discoveries of the genetic underpinnings of ILD have identified common pathways of lung fibrosis, including altered surfactant metabolism, increased endoplasmic reticulum stress signaling, and telomere shortening.

Original languageEnglish (US)
Title of host publicationInterstitial Lung Disease
PublisherElsevier Inc.
Pages1-24
Number of pages24
ISBN (Electronic)9780323480253
ISBN (Print)9780323480246
DOIs
StatePublished - Mar 6 2017

Fingerprint

Interstitial Lung Diseases
Phenotype
Telomere Shortening
Inborn Genetic Diseases
Endoplasmic Reticulum Stress
Explosions
Surface-Active Agents
Fibrosis
Lung

Keywords

  • Common variants
  • ER stress
  • Genetics
  • Interstitial lung disease
  • Mutations
  • Pulmonary fibrosis
  • Rare variants
  • Surfactant
  • Telomerase
  • Telomeres

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Garcia, C. K. (2017). Genetic Interstitial Lung Disease. In Interstitial Lung Disease (pp. 1-24). Elsevier Inc.. https://doi.org/10.1016/B978-0-323-48024-6.00001-X

Genetic Interstitial Lung Disease. / Garcia, Christine Kim.

Interstitial Lung Disease. Elsevier Inc., 2017. p. 1-24.

Research output: Chapter in Book/Report/Conference proceedingChapter

Garcia, CK 2017, Genetic Interstitial Lung Disease. in Interstitial Lung Disease. Elsevier Inc., pp. 1-24. https://doi.org/10.1016/B978-0-323-48024-6.00001-X
Garcia CK. Genetic Interstitial Lung Disease. In Interstitial Lung Disease. Elsevier Inc. 2017. p. 1-24 https://doi.org/10.1016/B978-0-323-48024-6.00001-X
Garcia, Christine Kim. / Genetic Interstitial Lung Disease. Interstitial Lung Disease. Elsevier Inc., 2017. pp. 1-24
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