Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. (Q35863467)

10 August 2017

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

1 reference

10 August 2017

Bernard Brais

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Adeline Vanderver

object named as

Adeline Vanderver

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10 August 2017

Geneviève Bernard

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10 August 2017

Benoit Coulombe

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10 August 2017

Mathieu Lavallée-Adam

object named as

Mathieu Lavallée-Adam

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10 August 2017

Christian Poitras

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10 August 2017

Sébastien Fribourg

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Cas Simons

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Nicole I Wolf

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Dagmar Timmann

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10 August 2017

Diane Forget

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10 August 2017

Kether Guerrero

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Bart P C van de Warrenburg

10 August 2017

object named as

Bart P van de Warrenburg

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10 August 2017

Isabelle Thiffault

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10 August 2017

Luan T Tran

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10 August 2017

Karine Choquet

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10 August 2017

Grace Yoon

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10 August 2017

Laszlo Sztriha

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10 August 2017

Richard I Webster

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10 August 2017

Jürgen Seeger

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10 August 2017

Alíz Zimmermann

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10 August 2017

Adrienn Máté

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10 August 2017

Cyril Goizet

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10 August 2017

Eva Fung

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10 August 2017

Marjo S van der Knaap

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10 August 2017

Ryan J Taft

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10 August 2017

John R Yates

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10 August 2017

language of work or name

English

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publication date

7 July 2015

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10 August 2017

Nature Communications

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10 August 2017

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10 August 2017

7623

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Creative Commons Attribution 4.0 International

10 August 2017

start time

7 July 2015

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April 2022 Public Data File from Crossref

copyrighted

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cites work

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

1 reference

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Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data

11 July 2018

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Mutations in RARS cause hypomyelination

11 July 2018

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VAP: a versatile aggregate profiler for efficient genome-wide data representation and discovery

11 July 2018

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RNA polymerase III transcriptomes in human embryonic stem cells and induced pluripotent stem cells, and relationships with pluripotency transcription factors

11 July 2018

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Crystal structure of the 14-subunit RNA polymerase I

11 July 2018

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The CRAPome: a contaminant repository for affinity purification-mass spectrometry data

11 July 2018

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Nuclear import of RNA polymerase II is coupled with nucleocytoplasmic shuttling of the RNA polymerase II-associated protein 2

11 July 2018

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Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

11 July 2018

1 reference

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The prefoldin bud27 mediates the assembly of the eukaryotic RNA polymerases in an rpb5-dependent manner.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Discovery of cell compartment specific protein-protein interactions using affinity purification combined with tandem mass spectrometry

11 July 2018

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GENCODE: the reference human genome annotation for The ENCODE Project

11 July 2018

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Interaction of nucleolin with ribosomal RNA genes and its role in RNA polymerase I transcription

11 July 2018

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

11 July 2018

1 reference

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RobiNA: a user-friendly, integrated software solution for RNA-Seq-based transcriptomics

11 July 2018

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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Fast gapped-read alignment with Bowtie 2

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Biogenesis of multisubunit RNA polymerases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Pol III binding in six mammals shows conservation among amino acid isotypes despite divergence among tRNA genes.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

A framework for variation discovery and genotyping using next-generation DNA sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

A pituitary-specific enhancer of the POMC gene with preferential activity in corticotrope cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

HSP90 and its R2TP/Prefoldin-like cochaperone are involved in the cytoplasmic assembly of RNA polymerase II

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

The protein interaction network of the human transcription machinery reveals a role for the conserved GTPase RPAP4/GPN1 and microtubule assembly in nuclear import and biogenesis of RNA polymerase II

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

11 July 2018

1 reference

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

11 July 2018

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Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Defining the RNA polymerase III transcriptome: Genome-wide localization of the RNA polymerase III transcription machinery in human cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Close association of RNA polymerase II and many transcription factors with Pol III genes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

The Sequence Alignment/Map format and SAMtools

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

High-resolution mapping of the protein interaction network for the human transcription machinery and affinity purification of RNA polymerase II-associated complexes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Invited article: an MRI-based approach to the diagnosis of white matter disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

GtRNAdb: a database of transfer RNA genes detected in genomic sequence

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Model-based analysis of ChIP-Seq (MACS)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Affinity-purification mass spectrometry (AP-MS) of serine/threonine phosphatases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

The latest on leukodystrophies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Probability-based protein identification by searching sequence databases using mass spectrometry data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

tRNAscan-SE: a program for improved detection of transfer RNA genes in genomic sequence

11 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

11 July 2018

https://api.crossref.org/works/10.1038%2FNCOMMS8623

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4506509

24 September 2018

Identifiers

DOI

10.1038/NCOMMS8623

1 reference

Dimensions Publication ID

10 August 2017

0 references

0 references

1 reference

10 August 2017

PubMed publication ID

26151409

1 reference