Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice (Q30503216)

14 September 2017

Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice (English)

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14 September 2017

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Karen Niederreither

series ordinal

2

object named as

Karen Niederreither

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14 September 2017

Julien Vermot

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14 September 2017

Jean-Marie Garnier

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3

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14 September 2017

Pascal Dollé

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5

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14 September 2017

language of work or name

English

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publication date

31 January 2003

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Proceedings of the National Academy of Sciences of the United States of America

14 September 2017

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14 September 2017

100

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14 September 2017

4

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14 September 2017

1763-1768

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An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Embryonic retinoic acid synthesis is essential for heart morphogenesis in the mouse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development

20 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Embryonic retinoic acid synthesis is essential for early mouse post-implantation development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

A decade of molecular biology of retinoic acid receptors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Molecular identification of a major retinoic-acid-synthesizing enzyme, a retinaldehyde-specific dehydrogenase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Nonsteroid nuclear receptors: what are genetic studies telling us about their role in real life?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Velo-cardio-facial syndrome: a review of 120 patients.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

DiGeorge syndrome: part of CATCH 22.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Velocardiofacial syndrome and DiGeorge sequence

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Short trachea, with reduced number of cartilage rings--a hitherto unrecognized feature of DiGeorge syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Di George anomaly and velocardiofacial syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

DiGeorge anomaly associated with 10p deletion

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Expression of a retinoic acid response element-hsplacZ transgene defines specific domains of transcriptional activity during mouse embryogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

The spectrum of the DiGeorge syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Tissue-specific expression of retinoic acid receptor isoform transcripts in the mouse embryo.

20 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0437920100

RALDH3, a retinaldehyde dehydrogenase that generates retinoic acid, is expressed in the ventral retina, otic vesicle and olfactory pit during mouse development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0437920100

Restricted expression and retinoic acid-induced downregulation of the retinaldehyde dehydrogenase type 2 (RALDH-2) gene during mouse development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0437920100

Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0437920100

Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

A genetic link between Tbx1 and fibroblast growth factor signaling.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Retinoid signaling is essential for patterning the endoderm of the third and fourth pharyngeal arches.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Retinoic acid synthesis and hindbrain patterning in the mouse embryo.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Ethanol inhibition of retinoic acid synthesis as a potential mechanism for fetal alcohol syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=149907

Two rhombomeres are altered in Hoxa-1 mutant mice

26 November 2018

1 reference

12 December 2020

Congenital Cardiovascular Disease and Anomalies of the Third and Fourth Pharyngeal Pouch

1 reference

12 December 2020

Cardiac neural crest is essential for the persistence rather than the formation of an arch artery

1 reference

12 December 2020

An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation

1 reference

12 December 2020

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1 reference

12 December 2020

The DiGeorge syndrome and the fetal alcohol syndrome

1 reference

12 December 2020

22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes

1 reference

12 December 2020

Cis-acting regulatory sequences governing Wnt-1 expression in the developing mouse CNS

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0437920100

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14 September 2017

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14 September 2017

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