A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia (Q28307444)

1

object named as

Jonathan A Kropski

0 references

author name string

Daphne B Mitchell

2

0 references

Cheryl Markin

3

0 references

Vasiliy V Polosukhin

4

0 references

Leena Choi

5

0 references

Joyce E Johnson

6

0 references

William E Lawson

7

0 references

John A Phillips

8

0 references

Joy D Cogan

9

0 references

Timothy S Blackwell

10

0 references

James E Loyd

11

0 references

language of work or name

English

0 references

publication date

July 2014

0 references

published in

Chest

0 references

volume

146

0 references

page(s)

e1-7

0 references

issue

1

0 references

cites work

The telomere syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

The genetics of dyskeratosis congenita

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

SIFT: Predicting amino acid changes that affect protein function

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Telomerase mutations in families with idiopathic pulmonary fibrosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Telomerase deficiency does not alter bleomycin-induced fibrosis in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Dyskerin, telomerase and the DNA damage response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Telomere shortening in familial and sporadic pulmonary fibrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Telomerase activity is required for bleomycin-induced pulmonary fibrosis in mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Generalized linear mixed models: a review and some extensions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Adult-onset pulmonary fibrosis caused by mutations in telomerase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Clinical and pathologic features of familial interstitial pneumonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Telomere length assessment in human archival tissues: combined telomere fluorescence in situ hybridization and immunostaining

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077414

A new human dyskerin isoform with cytoplasmic localization

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24504062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pulmonary fibrosis in families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24504062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24504062