(Q35554660)

8 August 2017

title

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

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8 August 2017

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Chao Xing

4

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Kaya Bilguvar

18

object named as

Kaya Bilguvar

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8 August 2017

9

Fernando Torres

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8 August 2017

Bridget D Stuart

1

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8 August 2017

Jungmin Choi

2

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8 August 2017

Samir Zaidi

3

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8 August 2017

Brody Holohan

5

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8 August 2017

Rui Chen

6

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8 August 2017

Mihwa Choi

7

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8 August 2017

Pooja Dharwadkar

8

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8 August 2017

Carlos E Girod

10

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8 August 2017

Jonathan Weissler

11

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8 August 2017

John Fitzgerald

12

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8 August 2017

Corey Kershaw

13

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8 August 2017

Julia Klesney-Tait

14

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8 August 2017

Yolanda Mageto

15

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8 August 2017

Jerry W Shay

16

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8 August 2017

Weizhen Ji

17

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8 August 2017

Shrikant Mane

19

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8 August 2017

Richard P Lifton

20

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8 August 2017

Christine Kim Garcia

21

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8 August 2017

language of work or name

English

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publication date

13 April 2015

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8 August 2017

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8 August 2017

volume

47

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8 August 2017

issue

5

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8 August 2017

page(s)

512-517

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Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: an observational cohort study with independent validation.

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

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Poly(A)-specific ribonuclease mediates 3'-end trimming of Argonaute2-cleaved precursor microRNAs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Genic intolerance to functional variation and the interpretation of personal genomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

De novo mutations in histone-modifying genes in congenital heart disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

De Novo Gene Disruptions in Children on the Autistic Spectrum

12 July 2018

1 reference

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

A fast, powerful method for detecting identity by descent

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Telomere shortening in familial and sporadic pulmonary fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

A second generation human haplotype map of over 3.1 million SNPs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Adult-onset pulmonary fibrosis caused by mutations in telomerase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Telomerase mutations in families with idiopathic pulmonary fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Clinical and pathologic features of familial interstitial pneumonia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Cap-dependent deadenylation of mRNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Adult familial cryptogenic fibrosing alveolitis in the United Kingdom

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

A general conditional-logistic model for affected-relative-pair linkage studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

The deadenylating nuclease (DAN) is involved in poly(A) tail removal during the meiotic maturation of Xenopus oocytes.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4414891

Rare variants in RTEL1 are associated with familial interstitial pneumonia

12 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3278

inferred from DOI database lookup

7 January 2021

based on heuristic

Analysis of telomeres and telomerase

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3278

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3278

1 reference

8 August 2017

1 reference

8 August 2017

1 reference