(Q36050665)

English

RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome

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scholarly article

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Europe PubMed Central

PMC publication ID

11 August 2017

RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome (English)

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Europe PubMed Central

PMC publication ID

11 August 2017

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Williams-Beuren syndrome

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Paulina Carmona-Mora

3

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Paulina Carmona-Mora

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11 August 2017

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Susan M Corley

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11 August 2017

Cesar P Canales

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11 August 2017

Veronica Mendoza-Reinosa

4

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11 August 2017

Annemiek Beverdam

5

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11 August 2017

Edna C Hardeman

6

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11 August 2017

Marc R Wilkins

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11 August 2017

Stephen J Palmer

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11 August 2017

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13 June 2016

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11 August 2017

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11 August 2017

17

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11 August 2017

450

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Cytoscape

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DESeq2

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CZ Software Mentions: A large dataset of software mentions in the biomedical literature

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edgeR

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CZ Software Mentions: A large dataset of software mentions in the biomedical literature

The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation

1 reference

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2 October 2017

KPNA2 is a nuclear export protein that contributes to aberrant localisation of key proteins and poor prognosis of breast cancer

1 reference

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2 October 2017

The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.

1 reference

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2 October 2017

Wnt-Notch signalling crosstalk in development and disease.

1 reference

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2 October 2017

Signaling pathway cross talk in Alzheimer's disease

1 reference

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2 October 2017

Architectural niche organization by LHX2 is linked to hair follicle stem cell function

1 reference

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2 October 2017

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1 reference

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2 October 2017

WNT signaling in neuronal maturation and synaptogenesis

1 reference

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2 October 2017

The TGFbeta superfamily signaling pathway

1 reference

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2 October 2017

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

1 reference

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2 October 2017

Fibroblast growth factors in neurodevelopment and psychopathology

1 reference

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2 October 2017

Calcium regulation of keratinocyte differentiation

1 reference

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2 October 2017

A travel guide to Cytoscape plugins

1 reference

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2 October 2017

Oxytocin and vasopressin are dysregulated in Williams Syndrome, a genetic disorder affecting social behavior

1 reference

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2 October 2017

Fast gapped-read alignment with Bowtie 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

2 October 2017

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1 reference

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2 October 2017

Lhx2 differentially regulates Sox9, Tcf4 and Lgr5 in hair follicle stem cells to promote epidermal regeneration after injury

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

2 October 2017

Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

2 October 2017

REVIGO summarizes and visualizes long lists of gene ontology terms

1 reference

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2 October 2017

Fibroblast growth factors: biology, function, and application for tissue regeneration

1 reference

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2 October 2017

Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

2 October 2017

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

1 reference

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2 October 2017

Differential expression analysis for sequence count data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

2 October 2017

Fibroblast growth factors: from molecular evolution to roles in development, metabolism and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

2 October 2017

C12orf48, termed PARP-1 binding protein, enhances poly(ADP-ribose) polymerase-1 (PARP-1) activity and protects pancreatic cancer cells from DNA damage

1 reference

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Inactivation of fibroblast growth factor binding protein 3 causes anxiety-related behaviors

1 reference

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Wnt5a induces endothelial inflammation via beta-catenin-independent signaling

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Fgfr2 is required for the development of the medial prefrontal cortex and its connections with limbic circuits

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A scaling normalization method for differential expression analysis of RNA-seq data

1 reference

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1 reference

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Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism

1 reference

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2 October 2017

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

1 reference

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2 October 2017

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

2 October 2017

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2 October 2017

The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex

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2 October 2017

Evolution of the Wnt pathways

1 reference

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2 October 2017

Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development

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Signaling mechanisms linking neuronal activity to gene expression and plasticity of the nervous system

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2 October 2017

Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development

1 reference

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Lhx2 maintains stem cell character in hair follicles

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GTF2IRD1 in craniofacial development of humans and mice

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1 reference

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2 October 2017

Multiple GTF2I-like repeats of general transcription factor 3 exhibit DNA binding properties. Evidence for a common origin as a sequence-specific DNA interaction module

1 reference

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Oxytocin increases trust in humans

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2 October 2017

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2 October 2017

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1 reference

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1 reference

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1 reference

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27 July 2018

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

23 September 2018

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1 reference

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1 reference

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23 September 2018

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

23 September 2018

Expression profiling of BEN regulated genes in mouse embryonic fibroblasts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907016

23 September 2018

MusTRD can regulate postnatal fiber-specific expression.

1 reference

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23 September 2018

Identifiers

10.1186/S12864-016-2801-4

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Europe PubMed Central

PMC publication ID

11 August 2017

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24 November 2022

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PubMed publication ID

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