Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism (Q29147566)

positive regulation of transcription, DNA-templated

GOA release 2020-03-11

1 reference

disability affecting intellectual abilities

GOA release 2020-03-11

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

33

0 references

Stéphane Bézieau

26

object named as

Stéphane Bézieau

0 references

Sébastien Küry

29

object named as

Sébastien Küry

0 references

James R. Lupski

30

object named as

James R. Lupski

1 reference

4 April 2017

9

Mark Tarnopolsky

1 reference

4 April 2017

2

Katta M. Girisha

1 reference

4 April 2017

24

Ayman W. El-Hattab

1 reference

4 April 2017

18

Jane Juusola

1 reference

4 April 2017

4

Fanny Kortüm

1 reference

4 April 2017

27

Benjamin Cogné

1 reference

4 April 2017

Frederike Leonie Harms

1

1 reference

4 April 2017

Andrew A. Hardigan

3

1 reference

4 April 2017

Anju Shukla

5

1 reference

4 April 2017

Malik Alawi

6

1 reference

4 April 2017

Ashwin Dalal

7

1 reference

4 April 2017

Lauren Brady

8

1 reference

4 April 2017

Lynne M. Bird

10

1 reference

4 April 2017

Sophia Ceulemans

11

1 reference

4 April 2017

Martina Bebin

12

1 reference

4 April 2017

Kevin M. Bowling

13

1 reference

4 April 2017

Susan M. Hiatt

14

1 reference

4 April 2017

Edward J. Lose

15

1 reference

4 April 2017

Michelle Primiano

16

1 reference

4 April 2017

Wendy K. Chung

17

1 reference

4 April 2017

Zeynep C. Akdemir

19

1 reference

4 April 2017

Matthew Bainbridge

20

1 reference

4 April 2017

Wu-Lin Charng

21

1 reference

4 April 2017

Margaret Drummond-Borg

22

1 reference

4 April 2017

Mohammad K. Eldomery

23

1 reference

4 April 2017

Mohammed A. M. Saleh

25

1 reference

4 April 2017

Bertrand Isidor

28

1 reference

4 April 2017

Richard M. Myers

31

1 reference

4 April 2017

Gregory M. Cooper

American Journal of Human Genetics

32

1 reference

4 April 2017

language of work or name

English

0 references

publication date

5 January 2017

1 reference

4 April 2017

1 reference

4 April 2017

100

1 reference

4 April 2017

1

1 reference

4 April 2017

117–127

1 reference

4 April 2017

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Somatic mosaicism: implications for disease and transmission genetics

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

A framework for the interpretation of de novo mutation in human disease

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

EBF2 determines and maintains brown adipocyte identity

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Structure of an Ebf1:DNA complex reveals unusual DNA recognition and structural homology with Rel proteins

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Model-based analysis of ChIP-Seq (MACS)

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

CCAAT displacement protein/cut homolog recruits G9a histone lysine methyltransferase to repress transcription

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

UCSF Chimera--a visualization system for exploratory research and analysis

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

SWISS-MODEL: An automated protein homology-modeling server

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Molecular cloning of the olfactory neuronal transcription factor Olf-1 by genetic selection in yeast

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

BEDTools: a flexible suite of utilities for comparing genomic features

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

MEME SUITE: tools for motif discovery and searching

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Genome-wide mapping of in vivo protein-DNA interactions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

g:Profiler-a web server for functional interpretation of gene lists (2016 update)

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Molecular findings among patients referred for clinical whole-exome sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

The regulatory network of B-cell differentiation: a focused view of early B-cell factor 1 function

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Genome sequencing identifies major causes of severe intellectual disability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Genic intolerance to functional variation and the interpretation of personal genomes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Transposase mediated construction of RNA-seq libraries.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Emerging roles of the EBF family of transcription factors in tumor suppression

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Genomic determination of the glucocorticoid response reveals unexpected mechanisms of gene regulation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

The 'zinc knuckle' motif of Early B cell Factor is required for transcriptional activation of B cell-specific genes.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

An EBF3-mediated transcriptional program that induces cell cycle arrest and apoptosis.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Xebf3 is a regulator of neuronal differentiation during primary neurogenesis in Xenopus.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Family of Ebf/Olf-1-related genes potentially involved in neuronal differentiation and regional specification in the central nervous system.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

Diagnostic exome sequencing in persons with severe intellectual disability

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5223027

aRNApipe: a balanced, efficient and distributed pipeline for processing RNA-seq data in high-performance computing environments.

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28017373