(Q35736288)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

0 references

2

Sabine Aisenbrey

1 reference

PubMed publication ID

10 August 2017

Nicole Weisschuh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Bernd Wissinger

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Angelika Riess

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Sabine Aisenbrey

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

publication date

21 January 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

174-180

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312185%20AND%20SRC:MED&resulttype=core&format=json

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

22 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=3272051

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Congenital cataracts and their molecular genetics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Congenital hereditary cataracts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Allegro, a new computer program for multipoint linkage analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Deletion mutation in an eye lens beta-crystallin. An animal model for inherited cataracts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Genetics of crystallins: cataract and beyond.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Novel allele of crybb2 in the mouse and its expression in the brain.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Domain interaction sites of human lens betaB2-crystallin

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Association properties of betaB2- and betaA3-crystallin: ability to form dimers

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

Dimerization of beta B2-crystallin: the role of the linker peptide and the N- and C-terminal extensions

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272051

A novel mutation in CRYBB2 responsible for inherited coronary cataract

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22312185

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Human lens beta-crystallin solubility

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22312185

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:22312185%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

PubMed publication ID

22312185

1 reference