(Q34692137)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

Meghan A Coghlan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Adrian Shifren

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Howard J Huang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Tonya D Russell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Qunyuan Zhang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Daniel J Wegner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

F Sessions Cole

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Aaron Hamvas

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

publication date

10 December 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

BMJ open respiratory research

26 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

page(s)

e000057

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

26 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

MUC5B promoter polymorphism and interstitial lung abnormalities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

A common MUC5B promoter polymorphism and pulmonary fibrosis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

High-throughput discovery of rare insertions and deletions in large cohorts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

MutationTaster evaluates disease-causing potential of sequence alterations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

A method and server for predicting damaging missense mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Quantification of rare allelic variants from pooled genomic DNA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Telomere shortening in familial and sporadic pulmonary fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Population and disease-based prevalence of the common mutations associated with surfactant deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Diffuse lung disease in young children: application of a novel classification scheme

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Genetic disorders of surfactant proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

Telomerase mutations in families with idiopathic pulmonary fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

SIFT: Predicting amino acid changes that affect protein function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265083

The Registry of the International Society for Heart and Lung Transplantation: 29th adult lung and heart-lung transplant report-2012.

7 July 2018

1 reference

https://api.crossref.org/works/10.1136%2FBMJRESP-2014-000057

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBMJRESP-2014-000057

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBMJRESP-2014-000057

SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBMJRESP-2014-000057

10.1136/BMJRESP-2014-000057

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

25553246

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25553246%20AND%20SRC:MED&resulttype=core&format=json