(Q35570923)

8 August 2017

Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis (English)

1 reference

8 August 2017

1 reference

6

Mary Armanios

1 reference

8 August 2017

Jonathan K Alder

1

1 reference

8 August 2017

Susan E Stanley

2

1 reference

8 August 2017

Christa L Wagner

3

1 reference

8 August 2017

Makenzie Hamilton

4

1 reference

8 August 2017

Vidya Sagar Hanumanthu

5

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 May 2015

1 reference

8 August 2017

1 reference

8 August 2017

147

1 reference

8 August 2017

5

1 reference

8 August 2017

1361-1368

1 reference

Telomerase mutations in smokers with severe emphysema.

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Lung transplantation in telomerase mutation carriers with 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=4420184

A novel dyskerin (DKC1) mutation is associated with 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=4420184

A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

The gastrointestinal manifestations of telomere-mediated 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=4420184

12 July 2018

The telomere syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Revertant somatic mosaicism by mitotic recombination 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=4420184

Telomerase and 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=4420184

TIN2 protein dyskeratosis congenita missense mutants are defective in association with 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=4420184

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects 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=4420184

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=4420184

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Short telomeres are sufficient to cause the degenerative defects associated with aging

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Syndromes of telomere shortening

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

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=4420184

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=4420184

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

TINF2, a component of the shelterin telomere protection complex, is mutated 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=4420184

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=4420184

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

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=4420184

The effect of TERC haploinsufficiency on the inheritance of telomere length

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant 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=4420184

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=4420184

Telomere dysfunction triggers developmentally regulated germ cell apoptosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

An essential role for functional telomeres in mouse germ cells during fertilization and early development.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4420184

Pulmonary fibrosis in families

7 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25539146

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25539146

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1378/CHEST.14-1947

1 reference

8 August 2017

1 reference

8 August 2017

1 reference