Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes (Q35282415)

7 August 2017

Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes (English)

1 reference

7 August 2017

4

Kathryn A Carroll

1 reference

7 August 2017

Takeuchi Junko

1

1 reference

7 August 2017

Hinh Ly

2

1 reference

7 August 2017

Hiroki Yamaguchi

3

1 reference

7 August 2017

Kosaka Fumiko

5

1 reference

7 August 2017

Sawaguchi Kazuhiro

6

1 reference

7 August 2017

Mitamura Yoshio

7

1 reference

7 August 2017

Watanabe Ayako

8

1 reference

7 August 2017

Gomi Seiji

9

1 reference

7 August 2017

Inokuchi Koiti

10

1 reference

7 August 2017

Kazuo Dan

11

1 reference

7 August 2017

23 October 2007

1 reference

Blood Cells, Molecules and Diseases

7 August 2017

1 reference

7 August 2017

40

1 reference

7 August 2017

2

1 reference

7 August 2017

185-191

1 reference

Telomere length, risk of coronary heart disease, and statin treatment in the West of Scotland Primary Prevention Study: a nested case-control study

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

The epidemiology of aplastic anemia in Thailand

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

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=4386610

Dyskeratosis congenita: telomerase, telomeres and anticipation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with 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=4386610

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

Functional characterization of telomerase RNA variants found in patients with hematologic 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=4386610

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

Telomerase RNA structure and function: implications for 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=4386610

Comprehensive structure-function analysis of the core domain of human 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=4386610

Association between telomere length in blood and mortality in people aged 60 years or older

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

Human telomerase and its regulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

Endothelial cell senescence in human atherosclerosis: role of telomere in endothelial dysfunction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

Functional multimerization of human telomerase requires an RNA interaction domain in the N terminus of the catalytic subunit

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

A critical stem-loop structure in the CR4-CR5 domain of mammalian 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=4386610

The RNA component of telomerase is mutated 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=4386610

Very short telomeres in the peripheral blood of patients with X-linked and autosomal 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=4386610

Dyskeratosis congenita in all its forms

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

Secondary structure of vertebrate 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=4386610

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=4386610

Proposals for the classification of the myelodysplastic 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=4386610

Progressive telomere shortening in aplastic anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

Mutations in telomerase catalytic protein in Japanese children with aplastic anemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

Telomere length changes in patients with aplastic anaemia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4386610

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

26 September 2018

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

Functional characterization of natural telomerase mutations found in patients with hematologic disorders

1 reference

12 December 2020

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

12 December 2020

Severe aplastic anemia: a prospective study of the effect of early marrow transplantation on acute mortality

1 reference

12 December 2020

Lack of mutations of the human telomerase RNA gene (hTERC) in myelodysplastic syndrome

1 reference

12 December 2020

Telomere length in leukocyte subpopulations of patients with aplastic anemia

1 reference

12 December 2020

Telomere shortening in atherosclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.BCMD.2007.08.002

Identifiers

DOI

1 reference

7 August 2017

1 reference

7 August 2017

1 reference