(Q41867594)

13 October 2017

A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family (English)

1 reference

13 October 2017

Xing-Chao Shentu

1

1 reference

13 October 2017

Su-Juan Zhao

series ordinal

2

1 reference

13 October 2017

Li Zhang

series ordinal

3

1 reference

13 October 2017

Qi Miao

series ordinal

4

1 reference

13 October 2017

language of work or name

1 reference

18 February 2013

1 reference

International Journal of Ophthalmology

13 October 2017

1 reference

13 October 2017

6

1 reference

13 October 2017

1

1 reference

13 October 2017

34-38

1 reference

EPHA2 polymorphisms and age-related cataract in India

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

A role for epha2 in cell migration and refractive organization of the ocular lens.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese population

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

EPHA2 is associated with age-related cortical cataract in mice and humans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

The EPHA2 gene is associated with cataracts linked to chromosome 1p

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Eph, a protein family coming of age: more confusion, insight, or complexity?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Eph-ephrin bidirectional signaling in physiology and disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Congenital cataracts and their molecular genetics

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

The PITX3 gene in posterior polar congenital cataract in Australia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Eph receptor signalling casts a wide net on cell behaviour

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

cDNA cloning and characterization of eck, an epithelial cell receptor protein-tyrosine kinase in the eph/elk family of protein kinases

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580246

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23447127

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3980/J.ISSN.2222-3959.2013.01.07

1 reference

13 October 2017

1 reference

13 October 2017

PubMed publication ID

23447127

1 reference