A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development (Q35797327)

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scientific article published on 3 January 2012

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English	A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development	scientific article published on 3 January 2012

Statements

scholarly article

1 reference

Europe PubMed Central

10 August 2017

A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development (English)

1 reference

Europe PubMed Central

10 August 2017

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Paired-like homeodomain 2

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GOA release 2020-03-11

Axenfeld-Rieger syndrome

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based on heuristic

inferred from title

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based on heuristic

inferred from title

author name string

Brenda L Bohnsack

1

1 reference

Europe PubMed Central

10 August 2017

Daniel S Kasprick

2

1 reference

Europe PubMed Central

10 August 2017

Phillip E Kish

3

1 reference

Europe PubMed Central

10 August 2017

Daniel Goldman

4

1 reference

Europe PubMed Central

10 August 2017

Alon Kahana

5

1 reference

Europe PubMed Central

10 August 2017

language of work or name

0 references

publication date

3 January 2012

1 reference

Europe PubMed Central

10 August 2017

Investigative Ophthalmology Visual Science

1 reference

Europe PubMed Central

10 August 2017

53

1 reference

Europe PubMed Central

10 August 2017

1

1 reference

Europe PubMed Central

10 August 2017

7-22

1 reference

Europe PubMed Central

10 August 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3292384/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

The eye as an organizer of craniofacial development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Pitx2 is an upstream activator of extraocular myogenesis and survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Retinoic acid signaling in perioptic mesenchyme represses Wnt signaling via induction of Pitx2 and Dkk2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

The Pitx2c N-terminal domain is a critical interaction domain required for asymmetric morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Foxd3 controls melanophore specification in the zebrafish neural crest by regulation of Mitf

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

The eye organizes neural crest cell migration

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Transparent adult zebrafish as a tool for in vivo transplantation analysis

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27 July 2018

Complex regulation of cyp26a1 creates a robust retinoic acid gradient in the zebrafish embryo

1 reference

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27 July 2018

Unexpected novel relational links uncovered by extensive developmental profiling of nuclear receptor expression

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27 July 2018

RDH10 is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development

1 reference

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27 July 2018

Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Current molecular understanding of Axenfeld-Rieger syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Genetic network during neural crest induction: from cell specification to cell survival.

1 reference

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27 July 2018

Morphogenesis of the anterior segment in the zebrafish eye.

1 reference

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27 July 2018

Generating transparent zebrafish: a refined method to improve detection of gene expression during embryonic development.

1 reference

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27 July 2018

Provitamin A conversion to retinal via the beta,beta-carotene-15,15'-oxygenase (bcox) is essential for pattern formation and differentiation during zebrafish embryogenesis

1 reference

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27 July 2018

Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome

1 reference

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27 July 2018

Zebrafish as a model organism for the identification and characterization of drugs and genes affecting p53 signaling

1 reference

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27 July 2018

Differential regulation of gene expression by PITX2 isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

A morpholino phenocopy of the colourless mutant

1 reference

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27 July 2018

Identification of a dominant negative homeodomain mutation in Rieger syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Patterning the cranial neural crest: hindbrain segmentation and Hox gene plasticity

1 reference

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27 July 2018

Identification of RALDH-3, a novel retinaldehyde dehydrogenase, expressed in the ventral region of the retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Mesendoderm and left-right brain, heart and gut development are differentially regulated by pitx2 isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Mouse Pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra- and periocular mesoderm and right pulmonary isomerism

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27 July 2018

The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

27 July 2018

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292384

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High-frequency generation of transgenic zebrafish which reliably express GFP in whole muscles or the whole body by using promoters of zebrafish origin.

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Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

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27 July 2018

The role of alcohol dehydrogenase in retinoic acid homeostasis and fetal alcohol syndrome

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Multiple congenital malformations associated with maternal isotretinoin therapy

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Teratogen update: vitamin A congeners.

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Cell movements and control of patterned tissue assembly during craniofacial development

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27 July 2018

Adaptations of Goldner's Masson trichrome stain for the study of undecalcified plastic embedded bone

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Development of extraocular muscles requires early signals from periocular neural crest and the developing eye.

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A DEAB-sensitive aldehyde dehydrogenase regulates hematopoietic stem and progenitor cells development during primitive hematopoiesis in zebrafish embryos.

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Evolving maps in craniofacial development.

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An altered phenotype in a conditional knockout of Pitx2 in extraocular muscle

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Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis.

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Sequential expression and redundancy of Pitx2 and Pitx3 genes during muscle development.

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Cranial muscle defects of Pitx2 mutants result from specification defects in the first branchial arch

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Cyp26 enzymes generate the retinoic acid response pattern necessary for hindbrain development.

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Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype.

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Extraocular muscle morphogenesis and gene expression are regulated by Pitx2 gene dose

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An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.

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25 September 2018

Characterization of the retinoic acid receptor genes raraa, rarab and rarg during zebrafish development

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A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

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Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development.

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Hedgehog signaling is required for cranial neural crest morphogenesis and chondrogenesis at the midline in the zebrafish skull.

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Early steps in neural crest specification.

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Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome

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25 September 2018

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.

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25 September 2018

Genetic dissection ofPitx2in craniofacial development uncovers new functions in branchial arch morphogenesis, late aspects of tooth morphogenesis and cell migration

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Retinoic acid-induced developmental defects are mediated by RARbeta/RXR heterodimers in the pharyngeal endoderm.

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25 September 2018

The zebrafish neckless mutation reveals a requirement for raldh2 in mesodermal signals that pattern the hindbrain

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Zebrafish colourless encodes sox10 and specifies non-ectomesenchymal neural crest fates.

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25 September 2018

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

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25 September 2018

Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.

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Dorsal and ventral retinal territories defined by retinoic acid synthesis, break-down and nuclear receptor expression.

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25 September 2018

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

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25 September 2018

Stages of embryonic development of the zebrafish

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Retinoic Acid in the Formation of the Dorsoventral Retina and Its Central Projections

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Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome

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https://pubmed.ncbi.nlm.nih.gov/22125274

12 December 2020

based on heuristic

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In situ hybridization studies of retinal neurons

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https://pubmed.ncbi.nlm.nih.gov/22125274

12 December 2020

based on heuristic

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Pitx2 promotes development of splanchnic mesoderm-derived branchiomeric muscle

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Differential expression and functional analysis of Pitx2 isoforms in regulation of heart looping in the chick

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Cranial paraxial mesoderm and neural crest cells of the mouse embryo: co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches

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The role of the neural crest in patterning of avian cranial skeletal, connective, and muscle tissues

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Histopathology and molecular basis of iridogoniodysgenesis syndrome

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https://pubmed.ncbi.nlm.nih.gov/22125274

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Identifiers

10.1167/IOVS.11-8494

1 reference

Europe PubMed Central

10 August 2017

1 reference

Europe PubMed Central

10 August 2017

1 reference

Europe PubMed Central

10 August 2017

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