Rare variants in RTEL1 are associated with familial interstitial pneumonia (Q35262015)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Rare variants in RTEL1 are associated with familial interstitial pneumonia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

0 references

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jonathan Andrew Kropski

2

object named as

Jonathan A Kropski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

22

Tasha E Fingerlin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Joy D Cogan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Min Zhao

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Daphne B Mitchell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Lynette Rives

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Cheryl Markin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Errine T Garnett

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Keri H Montgomery

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Wendi R Mason

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

David F McKean

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Julia Powers

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Elissa Murphy

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Lana M Olson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Leena Choi

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Dong-Sheng Cheng

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Lisa R Young

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Lisa H Lancaster

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Mark P Steele

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Kevin K Brown

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Marvin I Schwarz

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

David A Schwartz

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

William E Lawson

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

James E Loyd

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Zhongming Zhao

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

John A Phillips

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Timothy S Blackwell

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

1 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Respiratory and Critical Care Medicine

28 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

191

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

646-655

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

28 February 2020

cites work

1 reference

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27 July 2018

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A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

27 July 2018

1 reference

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

27 July 2018

1 reference

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RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication

27 July 2018

1 reference

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

27 July 2018

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27 July 2018

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Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome

27 July 2018

1 reference

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Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene

27 July 2018

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Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

27 July 2018

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

27 July 2018

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Identification of seven loci affecting mean telomere length and their association with disease

27 July 2018

1 reference

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Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

27 July 2018

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The gastrointestinal manifestations of telomere-mediated disease

27 July 2018

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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

27 July 2018

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

27 July 2018

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Detecting false-positive signals in exome sequencing

27 July 2018

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Familial pulmonary fibrosis is the strongest risk factor for idiopathic pulmonary fibrosis

27 July 2018

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

27 July 2018

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RTEL1 maintains genomic stability by suppressing homologous recombination

27 July 2018

1 reference

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Short telomeres are a risk factor for idiopathic pulmonary fibrosis

27 July 2018

1 reference

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Telomere shortening in familial and sporadic pulmonary fibrosis

27 July 2018

1 reference

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 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

27 July 2018

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27 July 2018

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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

27 July 2018

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26 September 2018

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

26 September 2018

1 reference

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RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity

26 September 2018

1 reference

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Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations

26 September 2018

1 reference

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Idiopathic pulmonary fibrosis

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1164%2FRCCM.201408-1510OC

Ku suppresses formation of telomeric circles and alternative telomere lengthening in Arabidopsis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25607374

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1164/RCCM.201408-1510OC

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25607374%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference