Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. (Q54418482)

29 May 2018

title

Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. (English)

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29 May 2018

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Coline H M van Moorsel

1

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29 May 2018

Matthijs F M van Oosterhout

2

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29 May 2018

Nicole P Barlo

3

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29 May 2018

Pim A de Jong

4

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29 May 2018

Joanne J van der Vis

5

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29 May 2018

Henk J T Ruven

6

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29 May 2018

H Wouter van Es

7

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29 May 2018

Jules M M van den Bosch

8

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29 May 2018

Jan C Grutters

9

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29 May 2018

language of work or name

English

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publication date

23 July 2010

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29 May 2018

American Journal of Respiratory and Critical Care Medicine

published in

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29 May 2018

volume

182

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29 May 2018

issue

11

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29 May 2018

page(s)

1419-1425

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29 May 2018

Idiopathic pulmonary fibrosis

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1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200906-0953OC

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Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland

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Familial idiopathic pulmonary fibrosis: clinical features and outcome

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A mutation in the surfactant protein C gene associated with familial interstitial lung disease

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A common mutation in the surfactant protein C gene associated with lung disease.

21 January 2018

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Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene

21 January 2018

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Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene

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New surfactant protein C gene mutations associated with diffuse lung disease

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Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis

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Function of surfactant proteins B and C

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ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells

21 January 2018

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Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation

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Idiopathic pulmonary fibrosis can be an autosomal dominant trait in some families

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21 January 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation

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Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative

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Early interstitial lung disease in familial pulmonary fibrosis

21 January 2018

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Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred

21 January 2018

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Adult-onset pulmonary fibrosis caused by mutations in telomerase

21 January 2018

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Telomerase mutations in families with idiopathic pulmonary fibrosis

21 January 2018

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Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

21 January 2018

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Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF

21 January 2018

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ABCA3 as a Lipid Transporter in Pulmonary Surfactant Biogenesis

21 January 2018

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10.1164/RCCM.200906-0953OC

21 January 2018

Identifiers

DOI

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29 May 2018

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29 May 2018