Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing (Q28507301)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing (English)

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

General transcription factor IIH subunit 5

28 February 2020

main subject

1 reference

Excision repair cross-complementing rodent repair deficiency, complementation group 3

1 reference

Excision repair cross-complementing rodent repair deficiency, complementation group 2

1 reference

General transcription factor IIH, polypeptide 5

1 reference

Nucleolar transcription factor 1

1 reference

Excision repair cross-complementing rodent repair deficiency, complementation group 6

1 reference

1 reference

Giuseppina Giglia-Mari

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Julie Nonnekens

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jorge Perez-Fernandez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Olivier Gadal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Giuseppina Giglia-Mari

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Chrystelle Bonnart

5

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Arjan F Theil

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

publication date

4 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

published in

Human Molecular Genetics

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

22

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

14

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

2881-2893

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

Linking rDNA transcription to the cellular energy supply

28 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

The transcriptional complexity of the TFIIH complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

TFIIH: when transcription met DNA repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Rapid switching of TFIIH between RNA polymerase I and II transcription and DNA repair in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

TFIIH plays an essential role in RNA polymerase I transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Directed proteomic analysis of the human nucleolus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

TFIIH is an elongation factor of RNA polymerase I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

At the crossroads of growth control; making ribosomal RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Ribosome biogenesis: from structure to dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

The post-transcriptional steps of eukaryotic ribosome biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Ribosome assembly in eukaryotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

The multifunctional nucleolus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

When ribosomes go bad: diseases of ribosome biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Impaired ribosome biogenesis in Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

The role of UBF in regulating the structure and dynamics of transcriptionally active rDNA chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

XPB, a subunit of TFIIH, is a target of the natural product triptolide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

CSB is a component of RNA pol I transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Truncated Cockayne syndrome B protein represses elongation by RNA polymerase I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Mapping the cleavage sites on mammalian pre-rRNAs: where do we stand?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Pol I transcription and pre-rRNA processing are coordinated in a transcription-dependent manner in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Differentiation driven changes in the dynamic organization of Basal transcription initiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

A kinetic framework for a mammalian RNA polymerase in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Crosstalk in gene expression: coupling and co-regulation of rDNA transcription, pre-ribosome assembly and pre-rRNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Transcription elongation by RNA polymerase I is linked to efficient rRNA processing and ribosome assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT143

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT143

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23562818%20AND%20SRC:MED&resulttype=core&format=json