(Q43094512)

English

Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.

scientific article published on 17 April 2010

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scholarly article

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Europe PubMed Central

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31 January 2020

Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20401492%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

0 references

Williams-Beuren syndrome

1 reference

based on heuristic

inferred from title

glucose intolerance

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

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31 January 2020

author name string

Mireia Vilardell

2

1 reference

Europe PubMed Central

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31 January 2020

Luis A Pérez Jurado

3

1 reference

Europe PubMed Central

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31 January 2020

publication date

17 April 2010

1 reference

Europe PubMed Central

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31 January 2020

1 reference

Europe PubMed Central

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31 January 2020

128

1 reference

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31 January 2020

1

1 reference

Europe PubMed Central

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31 January 2020

27-37

1 reference

Europe PubMed Central

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31 January 2020

https://scigraph.springernature.com/pub.10.1007/s00439-010-0817-4

0 references

Whole genome microarray analysis of gene expression in Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0817-4

21 January 2018

Signal-induced functions of the transcription factor TFII-I.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0817-4

21 January 2018

GSEA-P: a desktop application for Gene Set Enrichment Analysis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

When should one subtract background fluorescence in 2-color microarrays?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene expression omnibus: microarray data storage, submission, retrieval, and analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Energy metabolism in disorders of the nervous system.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conformational switch of syntaxin-1 controls synaptic vesicle fusion

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Williams-Beuren syndrome: a model of recurrent genomic mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reactome: a knowledge base of biologic pathways and processes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BioMart and Bioconductor: a powerful link between biological databases and microarray data analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Constructing inhibitory synapses

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neural basis of genetically determined visuospatial construction deficit in Williams syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SNX4 coordinates endosomal sorting of TfnR with dynein-mediated transport into the endocytic recycling compartment

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular motors and synaptic assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GABAC receptor sensitivity is modulated by interaction with MAP1B

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-wide associations of gene expression variation in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GIV is a nonreceptor GEF for G alpha i with a unique motif that regulates Akt signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syntaxin, but not soluble NSF attachment protein (SNAP), biosynthesis by rat pancreatic islets is regulated by glucose in parallel with proinsulin biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and classification of 16 new kinesin superfamily (KIF) proteins in mouse genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

KIF14 and citron kinase act together to promote efficient cytokinesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural variation in human gene expression assessed in lymphoblastoid cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MAP1B is required for axon guidance and Is involved in the development of the central and peripheral nervous system

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of BEN, a member of TFII-I family of transcription factors, during mouse pre- and postimplantation development

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Search for genetic variants of the SYNTAXIN 1A (STX1A) gene: the -352 A>T variant in the STX1A promoter associates with impaired glucose metabolism in an Italian obese population

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Williams-Beuren syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vesicular restriction of synaptobrevin suggests a role for calcium in membrane fusion

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of bipolar disorder by comparing gene expression profiles of postmortem brains of major mental disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multisystem study of 20 older adults with Williams syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Utilization of lymphoblastoid cell lines as a system for the molecular modeling of autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Circular binary segmentation for the analysis of array-based DNA copy number data

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis and management of medical problems in adults with Williams-Beuren syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LIMK1 acts downstream of BMP signaling in developing retinal ganglion cell axons but not dendrites

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genes, plasticity and mental retardation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cytoskeleton-related gene, uso1, is required for intracellular protein transport in Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LIMK1 and CLIP-115: linking cytoskeletal defects to Williams syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bcl11A/CTIP1 regulates expression of DCC and MAP1b in control of axon branching and dendrite outgrowth

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA interference-mediated silencing of mitotic kinesin KIF14 disrupts cell cycle progression and induces cytokinesis failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dendritic Spine Pathology: Cause or Consequence of Neurological Disorders?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational mechanisms of Williams-Beuren syndrome deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The neurobiology of Williams syndrome: cascading influences of visual system impairment?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronal abnormalities in microtubule-associated protein 1B mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microtubule-associated protein 1B, a growth-associated and phosphorylated scaffold protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Design considerations for efficient and effective microarray studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

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ConsensusPathDB--a database for integrating human functional interaction networks

1 reference

https://pubmed.ncbi.nlm.nih.gov/20401492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-010-0817-4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20401492%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20401492%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

ResearchGate publication ID

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