Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly (Q28511215)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly (English)

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

0 references

0 references

Sine oculis-related homeobox 3

1 reference

Transcription factor 7 like 1a

1 reference

SIX homeobox 7

1 reference

SIX homeobox 3b

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Lilianna Solnica-Krezel

6

object named as

Lilianna Solnica-Krezel

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

author name string

Xin Geng

1

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Christina Speirs

2

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Oleg Lagutin

3

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Adi Inbal

4

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Wei Liu

5

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Guillermo Oliver

9

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Douglas J Epstein

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

language of work or name

English

0 references

publication date

1 August 2008

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

number of pages

12

1 reference

based on heuristic

inferred from page(s)

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

volume

15

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

issue

2

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

page(s)

236-247

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

Six3 inactivation causes progressive caudalization and aberrant patterning of the mammalian diencephalon

12 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Emx2 and Pax6 function in cooperation with Otx2 and Otx1 to develop caudal forebrain primordium that includes future archipallium

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

The mammalian twisted gastrulation gene functions in foregut and craniofacial development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Chordin and noggin promote organizing centers of forebrain development in the mouse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Molecular mechanisms underlying cell fate specification in the developing telencephalon

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Genetic dissection of nodal function in patterning the mouse embryo

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Expression of three mouse homologs of the Drosophila segment polarity gene cubitus interruptus, Gli, Gli-2, and Gli-3, in ectoderm- and mesoderm-derived tissues suggests multiple roles during postimplantation development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Targeted oncogene activation by site-specific recombination in transgenic mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

The morphogen signaling network in forebrain development and holoprosencephaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Holoprosencephaly: clinical, anatomic, and molecular dimensions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Patterning and plasticity of the cerebral cortex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

How a Hedgehog might see holoprosencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Dosage of Fgf8 determines whether cell survival is positively or negatively regulated in the developing forebrain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Mechanisms of cerebral cortical patterning in mice and humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Repressor activity of Headless/Tcf3 is essential for vertebrate head formation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Genetic approaches to understanding brain development: holoprosencephaly as a model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Genetics of ventral forebrain development and holoprosencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Gli1 is a target of Sonic hedgehog that induces ventral neural tube development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Longitudinal organization of the anterior neural plate and neural tube.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Six3 represses nodal activity to establish early brain asymmetry in zebrafish

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Six3 functions in anterior neural plate specification by promoting cell proliferation and inhibiting Bmp4 expression

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Targeting of cre to the Foxg1 (BF-1) locus mediates loxP recombination in the telencephalon and other developing head structures

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Holoprosencephaly: molecular study of a California population

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Overexpression of the forebrain-specific homeobox gene six3 induces rostral forebrain enlargement in zebrafish.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Inductive interactions direct early regionalization of the mouse forebrain

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Removal of Pax6 partially rescues the loss of ventral structures in Shh null mice.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Molecular interactions coordinating the development of the forebrain and face.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Dorsoventral patterning is established in the telencephalon of mutants lacking both Gli3 and Hedgehog signaling.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Coordinate regulation and synergistic actions of BMP4, SHH and FGF8 in the rostral prosencephalon regulate morphogenesis of the telencephalic and optic vesicles

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Coordinate expression of Fgf8, Otx2, Bmp4, and Shh in the rostral prosencephalon during development of the telencephalic and optic vesicles.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Expression of murine Lhx5 suggests a role in specifying the forebrain.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597207

SIX3 mutations with holoprosencephaly

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18694563

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18694563

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.DEVCEL.2008.07.003

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18694563%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

2 references