(Q34388617)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22912673%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways (English)

1 reference

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11 February 2020

1 reference

15

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11 February 2020

author name string

Clémentine Ripoll

1

1 reference

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11 February 2020

Isabelle Rivals

2

1 reference

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11 February 2020

Emilie Ait Yahya-Graison

3

1 reference

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11 February 2020

Luce Dauphinot

4

1 reference

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11 February 2020

Evelyne Paly

5

1 reference

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11 February 2020

Clothilde Mircher

6

1 reference

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11 February 2020

Aimé Ravel

7

1 reference

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11 February 2020

Yann Grattau

8

1 reference

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11 February 2020

Henri Bléhaut

9

1 reference

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11 February 2020

André Mégarbane

10

1 reference

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11 February 2020

Guy Dembour

11

1 reference

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11 February 2020

Bénédicte de Fréminville

12

1 reference

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11 February 2020

Renaud Touraine

13

1 reference

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11 February 2020

Nicole Créau

14

1 reference

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11 February 2020

Jean Maurice Delabar

16

1 reference

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11 February 2020

language of work or name

English

0 references

publication date

9 August 2012

1 reference

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11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22912673%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

7

1 reference

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11 February 2020

issue

8

1 reference

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11 February 2020

page(s)

e41616

1 reference

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Creative Commons Attribution 4.0 International

11 February 2020

copyright license

start time

9 August 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

JAK/Stat signaling regulates heart precursor diversification in Drosophila

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Origin and development of the atrioventricular myocardial lineage: insight into the development of accessory pathways

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

A novel Fbxo25 acts as an E3 ligase for destructing cardiac specific transcription factors.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Tbx1, subpulmonary myocardium and conotruncal congenital heart defects.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Genetic analysis of Down syndrome-associated heart defects in mice.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Integration of a Notch-dependent mesenchymal gene program and Bmp2-driven cell invasiveness regulates murine cardiac valve formation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Congenital heart defects and biomarkers of methylation in children: a case-control study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

The prevalence of congenital anomalies in Europe

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

The primary cilium: a signalling centre during vertebrate development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Proteins secreted by embryonic stem cells activate cardiomyocytes through ligand binding pathways

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

The role of secondary heart field in cardiac development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Abnormal Shh and FOXC2 expression correlates with aberrant lymphatic development in human fetuses with increased nuchal translucency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

A neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehog

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Transcriptional and functional profiling of human embryonic stem cell-derived cardiomyocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Intracardiac septation requires hedgehog-dependent cellular contributions from outside the heart

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Tissue expression patterns identify mouse cilia genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Genetic pathways to mammalian heart development: Recent progress from manipulation of the mouse genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Genome-wide associations of gene expression variation in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Development of the heart: (2) Septation of the atriums and ventricles

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Development of the heart: (1) formation of the cardiac chambers and arterial trunks

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Spectrum of congenital heart defects associated with Down Syndrome in high consanguineous Omani population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Maternal risk factors and major associated defects in infants with Down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Major congenital malformations in Down syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Dermatoglyphic indicators of congenital heart defects in Down's syndrome patients: a preliminary study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

sonic hedgehog is required in pulmonary endoderm for atrial septation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Cardiovascular development and the colonizing cardiac neural crest lineage.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Developmental defects in trisomy 21 and mouse models.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Postnatal lethality and cardiac anomalies in the Ts65Dn Down syndrome mouse model

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Semaphorin3D regulates invasion of cardiac neural crest cells into the primary heart field.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Lineage and morphogenetic analysis of the cardiac valves.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Population-based study of congenital heart defects in Down syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Anomalies in Down syndrome individuals in a large population-based registry

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415405

The association between congenital heart disease and Down syndrome in prenatal life

9 December 2018

1 reference

12 December 2020

Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses.

1 reference

12 December 2020

Study of Down syndrome in 238,942 consecutive births

1 reference

12 December 2020

Guidance of myocardial patterning in cardiac development by Sema6D reverse signalling

1 reference

12 December 2020

Congenital cardiac disease in children with Down's syndrome in Guatemala

1 reference

12 December 2020

[Linear insertion of the atrioventricular valves without defect]

1 reference

12 December 2020

Characterization of the cardiac phenotype in neonatal Ts65Dn mice

1 reference

12 December 2020

Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0041616

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22912673%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22912673%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

22912673

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22912673%20AND%20SRC:MED&resulttype=core&format=json