(Q37172916)

English

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

scientific article published on April 2009

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

holoprosencephaly

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based on heuristic

inferred from title

Maximilian Muenke

13

object named as

Maximilian Muenke

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Felicitas Lacbawan

2

object named as

Felicitas Lacbawan

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

author name string

Erich Roessler

1

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Christèle Dubourg

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Aimee Paulussen

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Jos Herbergs

5

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Ute Hehr

6

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Claude Bendavid

7

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Nan Zhou

8

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Maia Ouspenskaia

9

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Sherri Bale

10

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Sylvie Odent

11

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Europe PubMed Central

PMC publication ID

18 August 2017

Vèronique David

12

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Europe PubMed Central

PMC publication ID

18 August 2017

publication date

1 April 2009

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Europe PubMed Central

PMC publication ID

18 August 2017

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

30

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Europe PubMed Central

PMC publication ID

18 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

E541-54

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Holoprosencephaly: new models, new insights

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Characterization of the interactions of human ZIC3 mutants with GLI3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

The morphogen signaling network in forebrain development and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Holoprosencephaly: clinical, anatomic, and molecular dimensions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Central roles of the roof plate in telencephalic development and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

A wide-range phylogenetic analysis of Zic proteins: implications for correlations between protein structure conservation and body plan complexity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

The role of Zic genes in neural development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Immunolocalization of Zic2 expression in the developing mouse forebrain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Midline and laterality defects: left and right meet in the middle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Zic2 regulates the kinetics of neurulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Crystal structure of a five-finger GLI-DNA complex: new perspectives on zinc fingers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Disruption of a putative Cys-zinc interaction eliminates the biological activity of the Krüppel finger protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

The GLI gene encodes a nuclear protein which binds specific sequences in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

6 September 2017

Overlapping and distinct expression domains of Zic2 and Zic3 during mouse gastrulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

3 September 2018

Zic2 is required for neural crest formation and hindbrain patterning during mouse development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

3 September 2018

Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

3 September 2018

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2674582

3 September 2018

Identifiers

10.1002/HUMU.20982

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

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