DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation (Q40978905)

25 September 2017

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation (English)

1 reference

25 September 2017

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27346687%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

David P. Kelsell

11

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9 June 2020

David A van Heel

12

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9 June 2020

author name string

Hemanth Tummala

1

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9 June 2020

Amanda J Walne

2

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9 June 2020

Mike Williams

3

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9 June 2020

Laura Collopy

5

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9 June 2020

Shirleny Cardoso

6

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9 June 2020

Alicia Ellison

7

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9 June 2020

Rob Wynn

8

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9 June 2020

Thierry Leblanc

9

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9 June 2020

Elspeth Payne

13

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9 June 2020

Vincent Plagnol

14

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9 June 2020

Inderjeet Dokal

15

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9 June 2020

Tom Vulliamy

16

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9 June 2020

Jude Fitzgibbon

10

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9 June 2020

language of work or name

English

0 references

publication date

22 June 2016

1 reference

American Journal of Human Genetics

25 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27346687%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

99

1 reference

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9 June 2020

issue

1

1 reference

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9 June 2020

page(s)

115-124

1 reference

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Mechanism of eIF6 release from the nascent 60S ribosomal subunit.

9 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Ribosomopathies and the paradox of cellular hypo- to hyperproliferation.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Marrow failure: a window into ribosome biology

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Bypass of the pre-60S ribosomal quality control as a pathway to oncogenesis

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Eukaryotic ribosome biogenesis at a glance

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Cryo-EM structures of Arx1 and maturation factors Rei1 and Jjj1 bound to the 60S ribosomal subunit

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Defective ribosome assembly in Shwachman-Diamond syndrome

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Defining the pathway of cytoplasmic maturation of the 60S ribosomal subunit.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

A ribosome-anchored chaperone network that facilitates eukaryotic ribosome biogenesis

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Ribosomopathies: human disorders of ribosome dysfunction

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

The cytosolic J-protein, Jjj1, and Rei1 function in the removal of the pre-60 S subunit factor Arx1

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Single-vector inducible lentiviral RNAi system for oncology target validation

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Telomere length measurement by a novel monochrome multiplex quantitative PCR method

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Arx1 functions as an unorthodox nuclear export receptor for the 60S preribosomal subunit

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

The Hsp40 chaperone Jjj1 is required for the nucleo-cytoplasmic recycling of preribosomal factors in Saccharomyces cerevisiae

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Network of general and specialty J protein chaperones of the yeast cytosol

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

The specialized cytosolic J-protein, Jjj1, functions in 60S ribosomal subunit biogenesis

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Ebp1 is a dsRNA-binding protein associated with ribosomes that modulates eIF2alpha phosphorylation.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

EBP1 is a nucleolar growth-regulating protein that is part of pre-ribosomal ribonucleoprotein complexes

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Ebp1, an ErbB-3 binding protein, interacts with Rb and affects Rb transcriptional regulation

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

A cell cycle-dependent protein serves as a template-specific translation initiation factor

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

A conserved HPD sequence of the J-domain is necessary for YDJ1 stimulation of Hsp70 ATPase activity at a site distinct from substrate binding

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

The complexity of human ribosome biogenesis revealed by systematic nucleolar screening of Pre-rRNA processing factors

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Shwachman-diamond syndrome.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

19 August 2018

Dyskeratosis Congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5005432

Shwachman-Diamond syndrome

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27346687

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Effect of protein synthesis inhibitors and low concentrations of actinomycin D on ribosomal RNA synthesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27346687

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.05.002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27346687%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27346687%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference