(Q42016584)

English

A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer

scientific article published on 25 January 2011

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer (English)

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

congenital disorder

0 references

Cataract-microcornea syndrome

1 reference

based on heuristic

inferred from title

object named as

Yong-Bin Yan

4

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author name string

Kai Jie Wang

1

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Sha Wang

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Ni-Qian Cao

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Si Quan Zhu

5

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Europe PubMed Central

PMC publication ID

15 October 2017

publication date

25 January 2011

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

32

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

E2050-60

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

A missense mutation in CRYBA4 associated with congenital cataract and microcornea.

1 reference

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5 June 2018

N-terminal extension of beta B1-crystallin: identification of a critical region that modulates protein interaction with beta A3-crystallin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Truncated human betaB1-crystallin shows altered structural properties and interaction with human betaA3-crystallin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Association properties of betaB1- and betaA3-crystallins: ability to form heterotetramers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

1 reference

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5 June 2018

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Dissecting the pretransitional conformational changes in aminoacylase I thermal denaturation

1 reference

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Oligomerization and aggregation of bovine pancreatic ribonuclease A: characteristic events observed by FTIR spectroscopy

1 reference

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5 June 2018

CRYBB1 mutation associated with congenital cataract and microcornea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Molecular genetic basis of inherited cataract and associated phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Crystal structure of truncated human βB1‐crystallin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Physical stability of proteins in aqueous solution: mechanism and driving forces in nonnative protein aggregation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Crystallin gene expression during rat lens development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

The presence of extralenticular crystallins and its relationship with transdifferentiation to lens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Ultra-violet fluorescence of actin. Determination of native actin content in actin preparations

1 reference

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5 June 2018

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

5 June 2018

Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

17 August 2018

Size of human lens beta-crystallin aggregates are distinguished by N-terminal truncation of betaB1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087119

17 August 2018

Causes of childhood blindness: results from west Africa, south India and Chile

1 reference

https://pubmed.ncbi.nlm.nih.gov/21972112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/21972112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.21436

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

ResearchGate publication ID

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