(Q24312191)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

0 references

1 reference

GOA release 2020-03-11

visual perception

1 reference

GOA release 2020-03-11

author name string

Ke Yao

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Chongfei Jin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Ning Zhu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Wei Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Renyi Wu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Jin Jiang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Xingchao Shentu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

language of work or name

English

0 references

publication date

9 July 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

1272-1276

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

SWISS-MODEL: An automated protein homology-modeling server

10 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=2447816

Alteration of protein-protein interactions of congenital cataract crystallin mutants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Crystal cataracts: human genetic cataract caused by protein crystallization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Molecular basis of a progressive juvenile-onset hereditary cataract

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

The gamma-crystallins and human cataracts: a puzzle made clearer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

19 March 2017

Global data on blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Biophysical Properties of γC-Crystallin in Human and Mouse Eye Lens: The Role of Molecular Dipoles

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

The crystallins: genes, proteins and diseases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Human gamma-crystallin genes. A gene family on its way to extinction

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Altered aggregation properties of mutant gamma-crystallins cause inherited cataract

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

PHD: predicting one-dimensional protein structure by profile-based neural networks

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Molecular genetic basis of inherited cataract and associated phenotypes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Clinical and genetic heterogeneity in autosomal dominant cataract

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

The genetics of cataract: our vision becomes clearer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Relationship between proteins encoded by three human gamma-crystallin genes and distinct polypeptides in the eye lens

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Lens crystallins: the evolution and expression of proteins for a highly specialized tissue

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Interdomain side-chain interactions in human gammaD crystallin influencing folding and stability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Causes of visual impairment in children: a study of 3,210 cases.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Mutation Causing Self-Aggregation in Human γC-Crystallin Leading to Congenital Cataract

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Quantitative measurement of young human eye lens crystallins by direct injection Fourier transform ion cyclotron resonance mass spectrometry

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Interactions and chaperone function of alphaA-crystallin with T5P gammaC-crystallin mutant

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

Protein folds and functional similarity; the Greek key/immunoglobulin fold

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2447816

The molecular structure and stability of the eye lens: X-ray analysis of γ-crystallin II

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18618005

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18618005

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18618005

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18618005%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

PubMed publication ID

18618005

1 reference