(Q37317012)

English

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

scientific article published on May 2013

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scholarly article

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Europe PubMed Central

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19 August 2017

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. (English)

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Europe PubMed Central

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19 August 2017

congenital disorder

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Kathleen Freson

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Kathleen Freson

14

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8

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Anita Rauch

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Europe PubMed Central

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19 August 2017

10

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Thomy de Ravel

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19 August 2017

Tjitske Kleefstra

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Tjitske Kleefstra

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19 August 2017

Marjolein H Willemsen

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Marjolein H Willemsen

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19 August 2017

author name string

Christophe Goubau

1

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19 August 2017

Koen Devriendt

2

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19 August 2017

Nathalie Van der Aa

3

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19 August 2017

An Crepel

4

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19 August 2017

Dagmar Wieczorek

5

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19 August 2017

Andreas Tzschach

9

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19 August 2017

Peter Leemans

11

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19 August 2017

Chris Van Geet

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19 August 2017

Gunnar Buyse

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19 August 2017

publication date

1 May 2013

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19 August 2017

European Journal of Human Genetics

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19 August 2017

21

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19 August 2017

12

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19 August 2017

1349-1355

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Europe PubMed Central

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19 August 2017

describes a project that uses

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3831085/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Dynamic FoxG1 expression coordinates the integration of multipolar pyramidal neuron precursors into the cortical plate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Isoform-specific toxicity of Mecp2 in postmitotic neurons: suppression of neurotoxicity by FoxG1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Crosstalk between NOTCH and AKT signaling during murine megakaryocyte lineage specification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

FoxG1 promotes the survival of postmitotic neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Rett syndrome: revised diagnostic criteria and nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Foxp3 regulates megakaryopoiesis and platelet function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Integration of telencephalic Wnt and hedgehog signaling center activities by Foxg1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Protein kinase D1 regulates cofilin-mediated F-actin reorganization and cell motility through slingshot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

FOXG1 is responsible for the congenital variant of Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Insulin-like growth factor-1 regulates platelet activation through PI3-Kalpha isoform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Disruption of Foxg1 expression by knock-in of cre recombinase: effects on the development of the mouse telencephalon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

The timing of cortical neurogenesis is encoded within lineages of individual progenitor cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

The pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Foxg1 suppresses early cortical cell fate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Human brain factor 1, a new member of the fork head gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

9 September 2017

FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

14 September 2017

ADP-stimulated activation of Akt during integrin outside-in signaling promotes platelet spreading by inhibiting glycogen synthase kinase-3β.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

26 June 2018

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

26 June 2018

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

26 June 2018

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

Foxg1 has an essential role in postnatal development of the dentate gyrus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

Questionable pathogenicity of FOXG1 duplication.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

Involvement of cAMP/Epac/PI3K-dependent pathway in the antiproteolytic effect of epinephrine on rat skeletal muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

The microtubule modulator RanBP10 plays a critical role in regulation of platelet discoid shape and degranulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

The role of Foxg1 and dorsal midline signaling in the generation of Cajal-Retzius subtypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

FoxG1 haploinsufficiency results in impaired neurogenesis in the postnatal hippocampus and contextual memory deficits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

Excess FoxG1 causes overgrowth of the neural tube

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

Expression of winged helix genes, BF-1 and BF-2, define adjacent domains within the developing forebrain and retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3831085

2 September 2018

West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.86

21 January 2018

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/23632790

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

West syndrome associated with 14q12 duplications harboring FOXG1

1 reference

https://pubmed.ncbi.nlm.nih.gov/23632790

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/23632790

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pituitary adenylate cyclase–activating polypeptide is a physiological inhibitor of platelet activation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.86

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1038/EJHG.2013.86

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

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