(Q35620795)

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Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients

scientific article published on 18 May 2015

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scholarly article

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Europe PubMed Central

PubMed publication ID

9 August 2017

Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

dyskeratosis congenita

1 reference

based on heuristic

inferred from title

X-linked dyskeratosis congenita

1 reference

based on heuristic

inferred from title

author name string

Bai-Wei Gu

1

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Marisa Apicella

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Jason Mills

3

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Jian-Meng Fan

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Dara A Reeves

5

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Deborah French

6

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Gregory M Podsakoff

7

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Monica Bessler

8

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Europe PubMed Central

PubMed publication ID

9 August 2017

Philip J Mason

9

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Europe PubMed Central

PubMed publication ID

9 August 2017

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publication date

18 May 2015

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Europe PubMed Central

PubMed publication ID

9 August 2017

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Europe PubMed Central

PubMed publication ID

9 August 2017

10

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Europe PubMed Central

PubMed publication ID

9 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

e0127414

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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Creative Commons Attribution 4.0 International

18 May 2015

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April 2022 Public Data File from Crossref

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Clonal genetic and hematopoietic heterogeneity among human-induced pluripotent stem cell lines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Induced pluripotent stem cells in medicine and biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Wnt signaling in stem and cancer stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Generation of human induced pluripotent stem cells from peripheral blood using the STEMCCA lentiviral vector

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Wnt/β-catenin signaling regulates telomerase in stem cells and cancer cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Lgr5 and Lgr6 as markers to study adult stem cell roles in self-renewal and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Dyskeratosis congenita as a disorder of telomere maintenance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Lgr5 intestinal stem cells have high telomerase activity and randomly segregate their chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Box H/ACA small ribonucleoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Ribosomopathies: human disorders of ribosome dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Dyskerin ablation in mouse liver inhibits rRNA processing and cell division

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Variable expression of Dkc1 mutations in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Wnt signaling, lgr5, and stem cells in the intestine and skin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Correlation between beta-catenin mutations and expression of Wnt-signaling target genes in hepatocellular carcinoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

The telomerase database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Shelterin: the protein complex that shapes and safeguards human telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

The many facets of H/ACA ribonucleoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Naf1 p is a box H/ACA snoRNP assembly factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

Secondary structure of vertebrate telomerase RNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

A telomerase component is defective in the human disease dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

12 July 2018

A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

25 September 2018

Crystal structure of an H/ACA box ribonucleoprotein particle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

25 September 2018

Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

25 September 2018

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

25 September 2018

Dyskeratosis Congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4436374

15 November 2018

Dyskeratosis congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/25992652

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25992652

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0127414

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

2015PLoSO..1027414G

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

ResearchGate publication ID

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