A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract (Q33980628)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20664694%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract (English)

1 reference

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8 February 2020

0 references

1 reference

Fucheng Cai

1

1 reference

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8 February 2020

Jianfang Zhu

2

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8 February 2020

Wen Chen

3

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8 February 2020

Tie Ke

4

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8 February 2020

Fang Wang

5

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8 February 2020

Xin Tu

6

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8 February 2020

Ying Zhang

7

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8 February 2020

Runming Jin

8

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8 February 2020

Xiaoyan Wu

9

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8 February 2020

language of work or name

English

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National Center for Biotechnology Information

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11 June 2024

publication date

22 June 2010

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full work available at URL

8 February 2020

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20664694/pdf/?tool=EBI

file format

Portable Document Format

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20664694/?tool=EBI

11 June 2024

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https://europepmc.org/articles/PMC2901194

11 June 2024

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https://europepmc.org/articles/PMC2901194?pdf=render

11 June 2024

file format

Portable Document Format

online access status

open access

content deliverer

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11 June 2024

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8 February 2020

volume

16

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8 February 2020

page(s)

1141-1145

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Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders

8 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

PAX6 mutations: genotype-phenotype correlations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

PAX6 gene variations associated with aniridia in south India

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

A perfect message: RNA surveillance and nonsense-mediated decay

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Mutation in the PAX6 gene in twenty patients with aniridia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901194

Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients

29 October 2018

1 reference

PubMed

12 December 2020

Three novel mutations of the PAX6 gene in Japanese aniridia patients

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects

1 reference

PubMed

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20664694%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference