(Q35042938)

6 August 2017

title

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (English)

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10

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22

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25

Christian Kubisch

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Alexandre Reymond

19

object named as

Alexandre Reymond

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20

Peter Nürnberg

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Deborah J Morris-Rosendahl

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object named as

Deborah J Morris-Rosendahl

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Patrick Cramer

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object named as

Patrick Cramer

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Janine Altmüller

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Holger Thiele

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ORCID Public Data File 2021

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author name string

Guntram Borck

1

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6 August 2017

Friederike Hög

2

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6 August 2017

Maria Lisa Dentici

3

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6 August 2017

Perciliz L Tan

4

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6 August 2017

Nadine Sowada

5

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6 August 2017

Ana Medeira

6

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6 August 2017

Lucie Gueneau

7

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6 August 2017

Maria Kousi

9

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6 August 2017

Larissa Wenzeck

11

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6 August 2017

Ian Blumenthal

12

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6 August 2017

Antonio Radicioni

13

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6 August 2017

Tito Livio Schwarzenberg

14

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Barbara Mandriani

15

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Rita Fischetto

16

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Giuseppe Merla

21

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6 August 2017

publication date

5 January 2015

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6 August 2017

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6 August 2017

volume

25

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6 August 2017

issue

2

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6 August 2017

page(s)

155-166

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describes a project that uses

6 August 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4315290/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

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Disruptive CHD8 mutations define a subtype of autism early in development

8 July 2018

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Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

8 July 2018

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Pontocerebellar hypoplasia

8 July 2018

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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

8 July 2018

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TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease

8 July 2018

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Mapping the protein interaction network for TFIIB-related factor Brf1 in the RNA polymerase III preinitiation complex.

8 July 2018

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SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

8 July 2018

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8 July 2018

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CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

8 July 2018

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AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

8 July 2018

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8 July 2018

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Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

8 July 2018

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

8 July 2018

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8 July 2018

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An integrated map of genetic variation from 1,092 human genomes

8 July 2018

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eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

8 July 2018

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Identification of RNA polymerase III-transcribed genes in eukaryotic genomes

8 July 2018

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

8 July 2018

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

8 July 2018

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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

8 July 2018

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

8 July 2018

1 reference

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Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

8 July 2018

1 reference

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Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

8 July 2018

1 reference

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Emerging major synaptic signaling pathways involved in intellectual disability

8 July 2018

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Exome sequencing as a tool for Mendelian disease gene discovery

8 July 2018

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Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

8 July 2018

1 reference

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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

8 July 2018

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Transcription by RNA polymerase III: more complex than we thought

8 July 2018

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RNA polymerase III transcription in cancer: the BRF2 connection

8 July 2018

1 reference

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Mediator head subcomplex Med11/22 contains a common helix bundle building block with a specific function in transcription initiation complex stabilization

8 July 2018

1 reference

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Leukoencephalopathy With Vanishing White Matter: A Review

8 July 2018

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8 July 2018

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Genomic binding profiles of functionally distinct RNA polymerase III transcription complexes in human cells

8 July 2018

1 reference

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Human RNA polymerase III transcriptomes and relationships to Pol II promoter chromatin and enhancer-binding factors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Pol II and its associated epigenetic marks are present at Pol III-transcribed noncoding RNA genes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

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8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Fast and accurate long-read alignment with Burrows-Wheeler transform

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Tissue-specific differences in human transfer RNA expression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Inhibition of TATA binding protein dimerization by RNA polymerase III transcription initiation factor Brf1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Recruitment of RNA polymerase III to its target promoters

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Alternatively spliced hBRF variants function at different RNA polymerase III promoters

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

The zinc ribbon domains of the general transcription factors TFIIB and Brf: conserved functional surfaces but different roles in transcription initiation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Structural basis of preinitiation complex assembly on human pol II promoters

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Functional and structural organization of Brf, the TFIIB-related component of the RNA polymerase III transcription initiation complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

A yeast TFIIB-related factor involved in RNA polymerase III transcription

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315290

Non-coding RNA production by RNA polymerase III is implicated in cancer

25 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25561519

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.176925.114

1 reference

6 August 2017

1 reference

6 August 2017

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