BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (Q35042938)

6 August 2017

title

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

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Christian Kubisch

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Alexandre Reymond

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object named as

Alexandre Reymond

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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

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Friederike Hög

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Maria Lisa Dentici

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Perciliz L Tan

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Nadine Sowada

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Ana Medeira

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Lucie Gueneau

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Maria Kousi

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Larissa Wenzeck

11

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Ian Blumenthal

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Antonio Radicioni

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Tito Livio Schwarzenberg

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Barbara Mandriani

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Rita Fischetto

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Giuseppe Merla

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6 August 2017

publication date

5 January 2015

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volume

25

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issue

2

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page(s)

155-166

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describes a project that uses

6 August 2017

ImageQuant

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11 June 2022

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

based on heuristic

inferred from PubMed Central ID database lookup

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8 July 2018

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

8 July 2018

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8 July 2018

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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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8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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

8 July 2018

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

8 July 2018

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Recruitment of RNA polymerase III to its target promoters

8 July 2018

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8 July 2018

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Alternatively spliced hBRF variants function at different RNA polymerase III promoters

8 July 2018

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8 July 2018

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Structural basis of preinitiation complex assembly on human pol II promoters

8 July 2018

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

8 July 2018

1 reference

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8 July 2018

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

8 July 2018

1 reference

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

8 July 2018

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

25 October 2018

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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

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6 August 2017

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