(Q39014952)

http://europepmc.org/abstract/PMC/5519963

14 July 2018

title

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis (English)

1 reference

http://europepmc.org/abstract/PMC/5519963

14 July 2018

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Michael T Durheim

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Jason W Chien

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Andrew S Allen

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Jamie L Todd

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Quanli Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Fran L Kelly

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Courtney Frankel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Caroline M Mebane

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Zhong Ren

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Joshua Bridgers

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Thomas J Urban

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Colin D Malone

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ashley Finlen Copeland

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Christie Brinkley

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Thomas O'Riordan

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

John G McHutchison

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Scott M Palmer

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

David B Goldstein

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

language of work or name

English

0 references

publication date

1 July 2017

1 reference

http://europepmc.org/abstract/PMC/5519963

14 July 2018

published in

American Journal of Respiratory and Critical Care Medicine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

196

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

82-93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

Analysis of protein-coding genetic variation in 60,706 humans

10 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema

15 July 2018

1 reference

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Molecular basis of telomere dysfunction in human genetic diseases

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

A global reference for human genetic variation

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Clinical outcomes of lung transplant recipients with telomerase mutations.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

15 July 2018

1 reference

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Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

15 July 2018

1 reference

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Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Telomere dysfunction causes alveolar stem cell failure

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Rare variants in RTEL1 are associated with familial interstitial pneumonia

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Sequencing studies in human genetics: design and interpretation.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Incidence and prevalence of idiopathic pulmonary fibrosis: review of the literature

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Molecular mechanisms in progressive idiopathic pulmonary fibrosis

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

A common MUC5B promoter polymorphism and pulmonary fibrosis.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

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15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Uncovering the roles of rare variants in common disease through whole-genome sequencing

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

A method and server for predicting damaging missense mutations

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Telomere shortening in familial and sporadic pulmonary fibrosis

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Adult-onset pulmonary fibrosis caused by mutations in telomerase

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Telomerase mutations in families with idiopathic pulmonary fibrosis

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

15 July 2018

1 reference

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Idiopathic pulmonary fibrosis in US Medicare beneficiaries aged 65 years and older: incidence, prevalence, and survival, 2001-11.

21 August 2018

1 reference

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21 August 2018

Dyskeratosis Congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5519963

10.1164/RCCM.201610-2088OC

2 December 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28099038%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference