(Q47914471)

6 February 2018

title

Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families. (English)

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6 February 2018

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Jonathan Andrew Kropski

1

object named as

Jonathan A Kropski

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6 February 2018

author name string

Sara Reiss

2

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6 February 2018

Cheryl Markin

3

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6 February 2018

Kevin K Brown

4

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6 February 2018

David A Schwartz

5

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6 February 2018

Marvin I Schwarz

6

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6 February 2018

James E Loyd

7

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6 February 2018

John A Phillips

8

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6 February 2018

Timothy S Blackwell

9

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6 February 2018

Joy D Cogan

10

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6 February 2018

language of work or name

English

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publication date

17 April 2017

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6 February 2018

American Journal of Respiratory and Critical Care Medicine

published in

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6 February 2018

volume

196

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6 February 2018

issue

11

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6 February 2018

page(s)

1481-1484

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6 February 2018

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

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

Rare variants in RTEL1 are associated with familial interstitial pneumonia

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

A method and server for predicting damaging missense mutations

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5736978

10.1164/RCCM.201703-0635LE

29 September 2018

Identifiers

DOI

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6 February 2018

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6 February 2018