(Q35030917)

5 August 2017

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase (English)

1 reference

5 August 2017

1 reference

1 reference

5

Mary Armanios

1 reference

5 August 2017

Erin M Parry

1

1 reference

5 August 2017

Jonathan K Alder

series ordinal

2

1 reference

5 August 2017

Xiaodong Qi

series ordinal

3

1 reference

5 August 2017

Julian J-L Chen

series ordinal

4

1 reference

5 August 2017

language of work or name

English

0 references

publication date

24 March 2011

1 reference

5 August 2017

1 reference

5 August 2017

117

1 reference

5 August 2017

21

1 reference

5 August 2017

5607-5611

1 reference

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Syndromes of telomere shortening

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Cancer in dyskeratosis congenita

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Telomere shortening in familial and sporadic pulmonary fibrosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Dyskeratosis congenita: a genetic disorder of many faces

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Adult-onset pulmonary fibrosis caused by mutations in telomerase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Telomerase mutations in families with idiopathic pulmonary fibrosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Short telomeres, even in the presence of telomerase, limit tissue renewal capacity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110022

Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation

25 October 2018

1 reference

12 December 2020

Telomerase is required to slow telomere shortening and extend replicative lifespan of HSCs during serial transplantation

1 reference

12 December 2020

Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome

1 reference

12 December 2020

Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA

1 reference

12 December 2020

Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation

1 reference

12 December 2020

10.1182/BLOOD-2010-11-322149

Identifiers

DOI

1 reference

5 August 2017

1 reference

5 August 2017

1 reference