Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations. (Q42077071)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28192371%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

title

Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations (English)

1 reference

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2 April 2020

4

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2 April 2020

author name string

Lindley Maryoung

1

1 reference

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2 April 2020

Yangbo Yue

2

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2 April 2020

Ashley Young

3

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2 April 2020

Cindy Barba

5

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2 April 2020

Nicolai S C van Oers

6

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2 April 2020

Richard C Wang

7

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2 April 2020

Christine Kim Garcia

8

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2 April 2020

language of work or name

English

0 references

publication date

13 February 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28192371%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

2 April 2020

published in

1 reference

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2 April 2020

volume

127

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2 April 2020

issue

3

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2 April 2020

page(s)

982-986

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2 April 2020

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Cancer-Specific Telomerase Reverse Transcriptase (TERT) Promoter Mutations: Biological and Clinical Implications

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Danazol Treatment for Telomere Diseases

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Role of Telomeres and Telomerase in Aging and Cancer

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Cancer-associated TERT promoter mutations abrogate telomerase silencing

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Cancer. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Cancer. TERT promoter mutations and telomerase reactivation in urothelial cancer

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Response to androgen therapy in patients with dyskeratosis congenita

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Frequency of TERT promoter mutations in human cancers

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Highly recurrent TERT promoter mutations in human melanoma

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

TERT promoter mutations in familial and sporadic melanoma

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Cancer in dyskeratosis congenita

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Adult-onset pulmonary fibrosis caused by mutations in telomerase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Telomerase mutations in families with idiopathic pulmonary fibrosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Identification of a specific telomere terminal transferase activity in Tetrahymena extracts

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330735

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

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28192371

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI91161

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28192371%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28192371%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

PubMed publication ID

28192371

1 reference