(Q39081916)

English

Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.

scientific article published on 21 October 2013

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115260%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115260%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

dyskeratosis congenita

1 reference

based on heuristic

inferred from title

X-linked dyskeratosis congenita

1 reference

based on heuristic

inferred from title

Christopher J Jang

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115260%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

6

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27 February 2020

author name string

Naresh R Thumati

1

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Europe PubMed Central

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27 February 2020

Xi-Lei Zeng

2

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Europe PubMed Central

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27 February 2020

Hilda H T Au

3

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27 February 2020

Eric Jan

5

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27 February 2020

publication date

21 October 2013

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Europe PubMed Central

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27 February 2020

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115260%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

34

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27 February 2020

12

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27 February 2020

1698-1707

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115260%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Syndromes of telomere shortening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

The telomere syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Telomerase mutations in families with idiopathic pulmonary fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Identifying effects of snoRNA-guided modifications on the synthesis and function of the yeast ribosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Dyskeratosis congenita: an inherited bone marrow failure syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Dyskeratosis congenita in all its forms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Site-specific pseudouridine formation in preribosomal RNA is guided by small nucleolar RNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Internal ribosome initiation of translation and the control of cell death.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Human intron-encoded Alu RNAs are processed and packaged into Wdr79-associated nucleoplasmic box H/ACA RNPs.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Modular domains of the Dicistroviridae intergenic internal ribosome entry site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Conserved element of the dicistrovirus IGR IRES that mimics an E-site tRNA/ribosome interaction mediates multiple functions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Human box H/ACA pseudouridylation guide RNA machinery

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Internal ribosome entry sites in cellular mRNAs: mystery of their existence.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Dyskeratosis congenita: telomerase, telomeres and anticipation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

The many facets of H/ACA ribonucleoproteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Idiopathic pulmonary fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

A telomerase component is defective in the human disease dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Noncoding RNAs of the H/ACA family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Initiation of protein synthesis from the A site of the ribosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

H/ACA guide RNAs, proteins and complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

21 January 2018

Dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

7 January 2021

based on heuristic

inferred from DOI database lookup

Determination of pseudouridine in tRNA and in acid-soluble tissue extracts by high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

7 January 2021

based on heuristic

inferred from DOI database lookup

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22447

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22447

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115260%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115260%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

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