Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity. (Q49652010)

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31 March 2020

title

Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28973381 AND SRC:MED&resulttype=core&format=json

Treacher Collins syndrome

31 March 2020

main subject

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inferred from title

Saccharomyces cerevisiae

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Nancy Walker-Kopp

1

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31 March 2020

Ashleigh J Jackobel

2

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31 March 2020

Gianno N Pannafino

3

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31 March 2020

Paola A Morocho

4

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31 March 2020

Xia Xu

5

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31 March 2020

Bruce A Knutson

6

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publication date

1 November 2017

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31 March 2020

published in

Human Molecular Genetics

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volume

26

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issue

21

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31 March 2020

page(s)

4290-4300

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Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses

31 March 2020

cites work

1 reference

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

21 January 2018

1 reference

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

21 January 2018

1 reference

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

21 January 2018

1 reference

Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF.

21 January 2018

1 reference

Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome

21 January 2018

1 reference

The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage

21 January 2018

1 reference

Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.

21 January 2018

1 reference

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

21 January 2018

1 reference

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

21 January 2018

1 reference

Biogenesis of multisubunit RNA polymerases

21 January 2018

1 reference

Association between 36- and 13.6-kDa alpha-like subunits of Arabidopsis thaliana RNA polymerase II.

21 January 2018

1 reference

Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III.

21 January 2018

1 reference

Rpc19 and Rpc40, two alpha-like subunits shared by nuclear RNA polymerases I and III, are interchangeable between the fission and budding yeasts

21 January 2018

1 reference

RPC40, a unique gene for a subunit shared between yeast RNA polymerases A and C.

21 January 2018

1 reference

Subunit assembly in vivo of Escherichia coli RNA polymerase: role of the amino-terminal assembly domain of alpha subunit.

21 January 2018

1 reference

A structural perspective on RNA polymerase I and RNA polymerase III transcription machineries.

21 January 2018

1 reference

Conservation between the RNA polymerase I, II, and III transcription initiation machineries

21 January 2018

1 reference

Crystal structure of the 14-subunit RNA polymerase I

21 January 2018

1 reference

Molecular structures of unbound and transcribing RNA polymerase III.

21 January 2018

1 reference

RNA polymerase I structure and transcription regulation

21 January 2018

1 reference

5-Fluoroorotic acid as a selective agent in yeast molecular genetics

21 January 2018

1 reference

Cold response in Saccharomyces cerevisiae: new functions for old mechanisms.

21 January 2018

1 reference

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.

21 January 2018

1 reference

Linking maternal and somatic 5S rRNA types with different sequence-specific non-LTR retrotransposons.

21 January 2018

1 reference

Rbs1, a new protein implicated in RNA polymerase III biogenesis in yeast Saccharomyces cerevisiae

21 January 2018

1 reference

Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management.

21 January 2018

1 reference

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

21 January 2018

1 reference

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

21 January 2018

1 reference

New case of 4H syndrome and a review of the literature

21 January 2018

1 reference

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

21 January 2018

1 reference

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.

21 January 2018

1 reference

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

21 January 2018

1 reference

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

21 January 2018

1 reference

Facial dysostoses: Etiology, pathogenesis and management

21 January 2018

1 reference

A review of craniofacial disorders caused by spliceosomal defects

21 January 2018

1 reference

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

21 January 2018

1 reference

Designer deletion strains derived from Saccharomyces cerevisiae S288C: A useful set of strains and plasmids for PCR-mediated gene disruption and other applications

21 January 2018

1 reference

Domains of Tra1 important for activator recruitment and transcription coactivator functions of SAGA and NuA4 complexes.

21 January 2018

1 reference

Bleach gel: A simple agarose gel for analyzing RNA quality

21 January 2018

1 reference

Architecture of the Saccharomyces cerevisiae RNA polymerase I Core Factor complex.

21 January 2018

1 reference

Fast chromatin immunoprecipitation assay

21 January 2018

1 reference

Microplate-based platform for combined chromatin and DNA methylation immunoprecipitation assays

21 January 2018

1 reference

The emerging roles of ribosome biogenesis in craniofacial development

21 January 2018

1 reference

12 December 2020

Three new dominant drug resistance cassettes for gene disruption in Saccharomyces cerevisiae

1 reference

12 December 2020

RPC19, the gene for a subunit common to yeast RNA polymerases A (I) and C (III).

1 reference

12 December 2020

Subunit of assembly of Escherichia coli RNA polymerase.

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDX317

1 reference

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31 March 2020

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31 March 2020

PubMed publication ID

28973381

1 reference