(Q28771473)

14 February 2017

title

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

1 reference

Nuclear assembly factor 1 ribonucleoprotein

14 February 2017

1 reference

1 reference

telomerase holoenzyme complex assembly

GOA release 2020-03-11

1 reference

Nuclear assembly factor 1 ribonucleoprotein

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

14

Mary Armanios

1 reference

14 February 2017

Susan E. Stanley

1

1 reference

14 February 2017

Dustin L. Gable

2

1 reference

14 February 2017

Christa L. Wagner

3

1 reference

14 February 2017

Thomas M. Carlile

4

1 reference

14 February 2017

Vidya Sagar Hanumanthu

5

1 reference

14 February 2017

Joshua D. Podlevsky

6

1 reference

14 February 2017

Sara E. Khalil

7

1 reference

14 February 2017

Amy E. DeZern

8

1 reference

14 February 2017

Maria F. Rojas-Duran

9

1 reference

14 February 2017

Carolyn D. Applegate

10

1 reference

14 February 2017

Jonathan K. Alder

11

1 reference

14 February 2017

Erin M. Parry

12

1 reference

14 February 2017

Wendy V. Gilbert

13

1 reference

14 February 2017

language of work or name

English

0 references

publication date

10 August 2016

1 reference

Science Translational Medicine

14 February 2017

published in

1 reference

14 February 2017

volume

8

1 reference

14 February 2017

issue

351

1 reference

14 February 2017

page(s)

351ra107

1 reference

The short and long telomere syndromes: paired paradigms for molecular medicine

14 February 2017

cites work

1 reference

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19 March 2017

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19 March 2017

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19 March 2017

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Telomerase and idiopathic pulmonary fibrosis

19 March 2017

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Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

19 March 2017

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

19 March 2017

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Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly

19 March 2017

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The box H/ACA RNP assembly factor Naf1p contains a domain homologous to Gar1p mediating its interaction with Cbf5p

19 March 2017

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

19 March 2017

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Dynamic association and localization of human H/ACA RNP proteins

19 March 2017

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Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells

19 March 2017

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hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase

19 March 2017

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snoRNA-LBME-db, a comprehensive database of human H/ACA and C/D box snoRNAs

19 March 2017

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

19 March 2017

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19 March 2017

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Naf1 p is a box H/ACA snoRNP assembly factor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Naf1p, an essential nucleoplasmic factor specifically required for accumulation of box H/ACA small nucleolar RNPs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Gene disruption and basic phenotypic analysis of nine novel yeast genes from chromosome XIV.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Secondary structure of vertebrate telomerase RNA

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

A telomerase component is defective in the human disease dyskeratosis congenita

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

The Jpred 3 secondary structure prediction server

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Germline transmission and tissue-specific expression of transgenes delivered by lentiviral vectors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

CDD: NCBI's conserved domain database

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Telomerase mutations in families with idiopathic pulmonary fibrosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Deaths: Final Data for 2013.

7 April 2017

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Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Binding of STIL to Plk4 activates kinase activity to promote centriole assembly

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Human telomerase: biogenesis, trafficking, recruitment, and activation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

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

3 June 2018

1 reference

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Telomere dysfunction causes alveolar stem cell failure

3 June 2018

1 reference

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Rare variants in RTEL1 are associated with familial interstitial pneumonia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

RNA-guided isomerization of uridine to pseudouridine--pseudouridylation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Telomerase mutations in smokers with severe emphysema.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

The effect on melanoma risk of genes previously associated with telomere length

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Identification of seven loci affecting mean telomere length and their association with disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Genetics of ribosomal proteins: "curiouser and curiouser"

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

The gastrointestinal manifestations of telomere-mediated disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Biogenesis of telomerase ribonucleoproteins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Telomere length is a determinant of emphysema susceptibility.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Phenotypes in mTERT⁺/⁻ and mTERT⁻/⁻ mice are due to short telomeres, not telomere-independent functions of telomerase reverse transcriptase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Removal of Spindly from microtubule-attached kinetochores controls spindle checkpoint silencing in human cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Comparing effects of mTR and mTERT deletion on gene expression and DNA damage response: a critical examination of telomere length maintenance-independent roles of telomerase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Syndromes of telomere shortening

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Telomere shortening in familial and sporadic pulmonary fibrosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Adult-onset pulmonary fibrosis caused by mutations in telomerase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Short telomeres, even in the presence of telomerase, limit tissue renewal capacity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

The effect of TERC haploinsufficiency on the inheritance of telomere length

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Clinical and pathologic features of familial interstitial pneumonia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

The many facets of H/ACA ribonucleoproteins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Haploinsufficiency of mTR results in defects in telomere elongation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

Human telomerase RNA and telomerase activity in immortal cell lines and tumor tissues

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5351811

A simple and fast secondary structure prediction method using hidden neural networks.

3 June 2018

1 reference

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https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF7837

Generation of gene-modified mice via Cas9/RNA-mediated gene targeting

21 January 2018

1 reference

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https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF7837

Alveolar cell senescence in patients with pulmonary emphysema

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/27510903