(Q34431404)

25205116

2 August 2017

title

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. (English)

1 reference

2 August 2017

1 reference

1

1 reference

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1 June 2020

Pasquale M Barbaro

7

1 reference

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1 June 2020

Lifeng Tian

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Roger Reddel

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

John Christodoulou

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Xun Xu

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Tracy M Bryan

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

15

Hakon Hakonarson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

8

Brendan Keating

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

9

Yulan Chen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Melissa Kartawinata

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jiankang Li

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hilda A Pickett

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Juliana Teo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Tatjana Kilo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Ahmad Al-Odaib

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

English

0 references

publication date

9 September 2014

1 reference

2 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

2767-2774

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

1 June 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4215308/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome

6 July 2018

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Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

6 July 2018

1 reference

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Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

6 July 2018

1 reference

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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

6 July 2018

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6 July 2018

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The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity

6 July 2018

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6 July 2018

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Specificity requirements for human telomere protein interaction with telomerase holoenzyme

6 July 2018

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TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends

6 July 2018

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6 July 2018

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Telomerase recruitment requires both TCAB1 and Cajal bodies independently

6 July 2018

1 reference

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CTC1 Mutations in a patient with dyskeratosis congenita.

6 July 2018

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

6 July 2018

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6 July 2018

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Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

6 July 2018

1 reference

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The genetics and clinical manifestations of telomere biology disorders

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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TIN2-tethered TPP1 recruits human telomerase to telomeres in vivo

6 July 2018

1 reference

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6 July 2018

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6 July 2018

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6 July 2018

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A conserved WD40 protein binds the Cajal body localization signal of scaRNP particles

6 July 2018

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A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis

6 July 2018

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6 July 2018

1 reference

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

6 July 2018

1 reference

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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

6 July 2018

1 reference

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Distinct functions of POT1 at telomeres

6 July 2018

1 reference

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Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita

6 July 2018

1 reference

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

6 July 2018

1 reference

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6 July 2018

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Leukocyte telomere length predicts cancer risk in Barrett's esophagus.

6 July 2018

1 reference

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6 July 2018

1 reference

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Telomere protection by mammalian Pot1 requires interaction with Tpp1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

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

6 July 2018

1 reference

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Adult-onset pulmonary fibrosis caused by mutations in telomerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Protein composition of catalytically active human telomerase from immortal cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Telomere and telomerase in stem cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

The POT1-TPP1 telomere complex is a telomerase processivity factor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

PTOP interacts with POT1 and regulates its localization to telomeres

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

A DNA damage checkpoint response in telomere-initiated senescence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Telomere measurement by quantitative PCR

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Predicting deleterious amino acid substitutions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

dbSNP: the NCBI database of genetic variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

A telomerase component is defective in the human disease dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Telomerase catalytic subunit homologs from fission yeast and human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Telomerase activity in human germline and embryonic tissues and cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Specific Association of Human Telomerase Activity with Immortal Cells and Cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

The RNA component of human telomerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Telomeres shorten during ageing of human fibroblasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Telomere length predicts replicative capacity of human fibroblasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215308

Activation of telomerase in human lymphocytes and hematopoietic progenitor cells

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25205116

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25205116

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2014-08-596445

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205116%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

25205116

1 reference