(Q37217014)

19 August 2017

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia (English)

1 reference

19 August 2017

1 reference

14

Guy A Rouleau

0 references

José-Mario Capo-Chichi

8

object named as

José-Mario Capo-Chichi

0 references

Sylvia Dobrzeniecka

12

object named as

Sylvia Dobrzeniecka

0 references

Jacques L. Michaud

16

object named as

Jacques L Michaud

1 reference

19 August 2017

15

André Tremblay

1 reference

19 August 2017

6

Lysanne Patry

1 reference

19 August 2017

1

Myriam Srour

1 reference

19 August 2017

David Chitayat

2

1 reference

19 August 2017

Véronique Caron

3

1 reference

19 August 2017

Nicolas Chassaing

4

1 reference

19 August 2017

Pierre Bitoun

5

1 reference

19 August 2017

Marie-Pierre Cordier

7

1 reference

19 August 2017

Christine Francannet

9

1 reference

19 August 2017

Patrick Calvas

10

1 reference

19 August 2017

Nicola Ragge

11

1 reference

19 August 2017

Fadi F Hamdan

13

1 reference

19 August 2017

language of work or name

English

0 references

publication date

26 September 2013

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

93

1 reference

19 August 2017

4

1 reference

19 August 2017

765-772

1 reference

Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

A paradoxical teratogenic mechanism for retinoic acid.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

A concerted kinase interplay identifies PPARgamma as a molecular target of ghrelin signaling in macrophages

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Imaging of Rab5 activity identifies essential regulators for phagosome maturation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

GAPex-5 mediates ubiquitination, trafficking, and degradation of epidermal growth factor receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Distinct roles for retinoic acid receptors alpha and beta in early lung morphogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Rab5-activating protein 6, a novel endosomal protein with a role in endocytosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Etiology of congenital diaphragmatic hernia: the retinoid hypothesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

The coregulator exchange in transcriptional functions of nuclear receptors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Retinoic acid receptor-alpha is stabilized in a repressive state by its C-terminal, isotype-specific F domain.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Critical period for retinoic acid-induced developmental abnormalities of the vitreous in mouse fetuses.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Developmental eye abnormalities in mouse fetuses induced by retinoic acid.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Role of the retinoic acid receptor beta (RARbeta) during mouse development

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

The descriptive epidemiology of anophthalmia and microphthalmia.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

The isotretinoin teratogen syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Divergent teratogenicity of agonists of retinoid X receptors in embryos of zebrafish (Danio rerio).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for auto

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Minor malformations characteristic of the retinoic acid embryopathy and other birth outcomes in children of women exposed to topical tretinoin during early pregnancy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Modulation of retinal cell populations and eye size in retinoic acid receptor knockout mice

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

Retinoic acid receptor-β: an endogenous inhibitor of the perinatal formation of pulmonary alveoli

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791254

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

4 December 2018

1 reference

12 December 2020

Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997

1 reference

12 December 2020

Malformations of the eye resulting from maternal hypervitaminosis A during gestation in the rat

1 reference

12 December 2020

Transgenic mice expressing a constitutively active retinoic acid receptor in the lens exhibit ocular defects

1 reference

12 December 2020

10.1016/J.AJHG.2013.08.014

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

24075189

1 reference