(Q37041915)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18931339%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements (English)

1 reference

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24 December 2019

0 references

0 references

1 reference

13

1 reference

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24 December 2019

Jennifer L. Ivanovich

3

object named as

Jennifer Ivanovich

1 reference

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24 December 2019

9

Adrianna Vlachos

1 reference

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24 December 2019

author name string

Hong-Yan Du

1

1 reference

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24 December 2019

Elena Pumbo

2

1 reference

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24 December 2019

Ping An

4

1 reference

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24 December 2019

Richard T Maziarz

5

1 reference

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24 December 2019

Ulrike M Reiss

6

1 reference

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24 December 2019

Deborah Chirnomas

7

1 reference

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24 December 2019

Akiko Shimamura

8

1 reference

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24 December 2019

Jeffrey M Lipton

10

1 reference

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24 December 2019

Rakesh K Goyal

11

1 reference

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24 December 2019

Frederick Goldman

12

1 reference

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24 December 2019

Philip J Mason

14

1 reference

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24 December 2019

Monica Bessler

15

1 reference

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24 December 2019

language of work or name

English

0 references

publication date

17 October 2008

1 reference

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24 December 2019

1 reference

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24 December 2019

volume

113

1 reference

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24 December 2019

issue

2

1 reference

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24 December 2019

page(s)

309-316

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18931339%20AND%20SRC:MED&resulttype=core&format=json

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

24 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Mutations in the telomerase component NHP2 cause the premature ageing syndrome 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=2615648

TINF2, a component of the shelterin telomere protection complex, is mutated in 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=2615648

Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Telomere length assessment: biomarker of chronic oxidative stress?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Very short telomere length by flow fluorescence in situ hybridization identifies patients with 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=2615648

Current diagnosis of inherited bone marrow failure syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Protein composition of catalytically active human telomerase from immortal cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Telomerase mutations in families with 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=2615648

The effect of TERC haploinsufficiency on the inheritance of telomere length

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Unbiased whole-genome amplification directly from clinical samples

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

A molecular switch underlies a human telomerase disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Shwachman-Diamond syndrome: report from an international conference

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

The RNA component of telomerase is mutated in autosomal dominant 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=2615648

Very short telomeres in the peripheral blood of patients with X-linked and autosomal 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=2615648

29 September 2017

Telomerase and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Dyskeratosis congenita in all its forms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Telomere fluorescence measurements in granulocytes and T lymphocyte subsets point to a high turnover of hematopoietic stem cells and memory T cells in early childhood.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

The telomere terminal transferase of Tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Telomere reduction in human colorectal carcinoma and with ageing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Telomeres shorten during ageing of human fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Structure and variability of human chromosome ends

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Structure and function of telomeres

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Telomere length predicts replicative capacity of human fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Telomerase activity in human germline and embryonic tissues and cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Genetic determination of telomere size in humans: a twin study of three age groups.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2615648

Bone marrow failure syndromes

4 September 2018

1 reference

12 December 2020

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome

1 reference

12 December 2020

Dysfunctional telomeres and dyskeratosis congenita

1 reference

12 December 2020

Human telomerase RNA mutations and bone marrow failure

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1182/BLOOD-2008-07-166421

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18931339%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18931339%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

PubMed publication ID

18931339

1 reference