(Q51385455)

19 May 2018

title

BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies. (English)

1 reference

19 May 2018

author name string

Y H Jee

1

1 reference

19 May 2018

N Sowada

2

1 reference

19 May 2018

T C Markello

3

1 reference

19 May 2018

I Rezvani

4

1 reference

19 May 2018

G Borck

5

1 reference

19 May 2018

J Baron

6

1 reference

19 May 2018

publication date

12 December 2016

1 reference

19 May 2018

published in

Clinical Genetics

1 reference

19 May 2018

volume

91

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19 May 2018

issue

5

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19 May 2018

page(s)

739-747

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19 May 2018

cites work

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Short and tall stature: a new paradigm emerges

22 May 2018

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

22 May 2018

1 reference

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

22 May 2018

1 reference

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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

22 May 2018

1 reference

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

22 May 2018

1 reference

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Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation

22 May 2018

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Analysis of DNA sequence variants detected by high-throughput sequencing

22 May 2018

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22 May 2018

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22 May 2018

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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

22 May 2018

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Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

22 May 2018

1 reference

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MicroRNA regulation of neural stem cells and neurogenesis

22 May 2018

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

22 May 2018

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

22 May 2018

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

22 May 2018

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Dicer-dependent pathways regulate chondrocyte proliferation and differentiation

22 May 2018

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Idiopathic short stature: definition, epidemiology, and diagnostic evaluation.

22 May 2018

1 reference

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The expanding RNA polymerase III transcriptome

22 May 2018

1 reference

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RNA polymerase III transcribes human microRNAs

22 May 2018

1 reference

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The mitogen-activated protein (MAP) kinase ERK induces tRNA synthesis by phosphorylating TFIIIB.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5389939

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5389939

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5389939

Regulation of RNA polymerase III transcription during mammalian cell growth.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5389939

A genome-wide scalable SNP genotyping assay using microarray technology

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5389939

14 August 2018

Identifiers

DOI

10.1111/CGE.12887

1 reference

19 May 2018

release_ucv2edhrezdihj22bp4nodksde

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ucv2edhrezdihj22bp4nodksde

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

5389939

1 reference

19 May 2018

PubMed publication ID

27748960

1 reference

19 May 2018