Imperial College London
Dr Carmel Stock

DrCarmelStock

Faculty of Medicine, National Heart & Lung Institute

Honorary Research Associate
 
 
 
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Contact

 

c.stock

 
 
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Location

 

2129Sydney StreetRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Stock:2018:10.1038/s41431-018-0104-8,
author = {Stock, CJW and Renzoni, EA},
doi = {10.1038/s41431-018-0104-8},
journal = {European Journal of Human Genetics},
pages = {765--777},
title = {Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature},
url = {http://dx.doi.org/10.1038/s41431-018-0104-8},
volume = {26},
year = {2018}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - The interplay between genetic and environmental factors is likely involved in the pathogenesis of systemic sclerosis (SSc). Interstitial lung disease associated in the context of SSc (SSc-ILD) is associated with significant morbidity, and is the leading cause of death in SSc. The spectrum of SSc-ILD severity is wide, ranging from patients with only limited and inherently stable pulmonary involvement, to those with extensive and progressive pulmonary fibrosis. In order to provide accurate prognostic information for patients, and to initiate appropriate monitoring and treatment regimens, the ability to identify patients at risk of developing severe ILD early in the disease course is crucial. Identification of genetic variants involved in disease pathogenesis can not only potentially provide diagnostic/prognostic markers, but can also highlight dysregulated molecular pathways for therapeutic targeting. A number of genetic associations have been established for susceptibility to SSc, but far fewer studies have investigated genetic susceptibility to SSc-ILD specifically. In this review we present a summary of the studies assessing genetic associations with SSc-ILD.
AU  - Stock,CJW
AU  - Renzoni,EA
DO  - 10.1038/s41431-018-0104-8
EP  - 777
PY  - 2018///
SN  - 1018-4813
SP  - 765
TI  - Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature
T2  - European Journal of Human Genetics
UR  - http://dx.doi.org/10.1038/s41431-018-0104-8
UR  - https://www.ncbi.nlm.nih.gov/pubmed/29476163
UR  - http://hdl.handle.net/10044/1/59660
VL  - 26
ER  -
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