Functional analysis of human mutations in homeodomain transcription factor PITX3 (Q21093363)

5 August 2022

Satoru Sakazume

1

Satoru

Sakazume

1 reference

1006599889

5 August 2022

Elena Sorokina

series ordinal

2

author given names

Elena

author last names

Sorokina

1 reference

1006599889

5 August 2022

Yoshiki Iwamoto

series ordinal

3

author given names

Yoshiki

author last names

Iwamoto

1 reference

1006599889

https://scigraph.springernature.com/pub.10.1186/1471-2199-8-84

5 August 2022

language of work or name

English

0 references

publication date

2007

0 references

published in

BMC Molecular Biology

0 references

volume

8

0 references

issue

1

0 references

page(s)

84

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exact match

0 references

cites work

Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)

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

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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

19 March 2017

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rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina

19 March 2017

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The PITX3 gene in posterior polar congenital cataract in Australia

19 March 2017

1 reference

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Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities

19 March 2017

1 reference

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Current molecular understanding of Axenfeld-Rieger syndrome

19 March 2017

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Posterior polar cataract: genetic analysis of a large family

19 March 2017

1 reference

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Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 pathway mediating cell-type-specific proliferation during development

19 March 2017

1 reference

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Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: implications for tooth development

19 March 2017

1 reference

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

19 March 2017

1 reference

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Smad6 as a transcriptional corepressor

19 March 2017

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Distinct HOX N-terminal arm residues are responsible for specificity of DNA recognition by HOX monomers and HOX.PBX heterodimers

19 March 2017

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

19 March 2017

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Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations

19 March 2017

1 reference

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Pitx3 activates mouse tyrosine hydroxylase promoter via a high-affinity binding site

19 March 2017

1 reference

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A response element for the homeodomain transcription factor Ptx3 in the tyrosine hydroxylase gene promoter

19 March 2017

1 reference

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A family of LIM domain-associated cofactors confer transcriptional synergism between LIM and Otx homeodomain proteins

19 March 2017

1 reference

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Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein

19 March 2017

1 reference

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Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene

12 September 2017

1 reference

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A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications

12 September 2017

1 reference

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Congenital hereditary cataracts

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia

12 September 2017

1 reference

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An N-Terminal Dimerization Domain Permits Homeodomain Proteins To Choose Compatible Partners and Initiate Sexual Development in the Mushroom Coprinus cinereus

12 September 2017

1 reference

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A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Multifunctional role of the Pitx2 homeodomain protein C-terminal tail

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

The nuclear localization signal (NLS) of PDX-1 is part of the homeodomain and represents a novel type of NLS.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1beta mutations in familial type 2 diabetes mellitus

12 September 2017

1 reference

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A homeodomain gene Ptx3 has highly restricted brain expression in mesencephalic dopaminergic neurons

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

A Genetic Model for Interaction of the Homeodomain Recognition Helix with DNA

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Identification of domains mediating transcription activation, repression, and inhibition in the paired-related homeobox protein, Prx2 (S8).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Functional human corneal equivalents constructed from cell lines.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Xpitx3: a member of the Rieg/Pitx gene family expressed during pituitary and lens formation in Xenopus laevis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Lens and retina formation require expression of Pitx3 in Xenopus pre-lens ectoderm

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

The homeodomain of Tinman mediates homo- and heterodimerization of NK proteins.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Zebrafish pitx3 is necessary for normal lens and retinal development

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

pitx3 defines an equivalence domain for lens and anterior pituitary placode

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Modulation of zebrafish pitx3 expression in the primordia of the pituitary, lens, olfactory epithelium and cranial ganglia by hedgehog and nodal signaling.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

HOXA10, Pbx2, and Meis1 Protein Expression in the Human Endometrium: Formation of Multimeric Complexes on HOXA10 Target Genes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

The OAR/aristaless domain of the homeodomain protein Cart1 has an attenuating role in vivo.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Hesx1 homeodomain protein represses transcription as a monomer and antagonises transactivation of specific sites as a homodimer.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Positively charged residues at the N-terminal arm of the homeodomain are required for efficient DNA binding by homeodomain-leucine zipper proteins.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2093940

Identification of a nuclear localization signal, RRMKWKK, in the homeodomain transcription factor PDX-1

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17888164

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A global initiative for the elimination of avoidable blindness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17888164

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Aphakia, a new mutation in the mouse

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17888164

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2199-8-84

0 references