(Q24632075)

2

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Harry L S Knopf

3

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Kirsten J Lampi

4

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Alan Shiels

American Journal of Human Genetics

5

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language of work or name

English

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publication date

November 2002

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published in

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volume

71

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issue

5

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page(s)

1216-21

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cites work

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

1 reference

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A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

7 April 2017

1 reference

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Molecular basis of a progressive juvenile-onset hereditary cataract

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N-terminal extension

7 April 2017

1 reference

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Basic local alignment search tool

7 April 2017

1 reference

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Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

A comprehensive genetic map of the human genome based on 5,264 microsatellites

7 April 2017

1 reference

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Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

The DNA sequence of human chromosome 22

7 April 2017

1 reference

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Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

The crystallins: genes, proteins and diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

Alpha-crystallin can function as a molecular chaperone

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

The evolution of monomeric and oligomeric betagamma-type crystallins. Facts and hypotheses

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

Association behaviour of human betaB1-crystallin and its truncated forms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

Maintenance of optical quality during crystalline lens growth

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

Origin of urea-soluble protein in the selenite cataract. Role of beta-crystallin proteolysis and calpain II.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

The X-ray structure of a mutant eye lens beta B2-crystallin with truncated sequence extensions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

Effects of controlled mutations on the N- and C-terminal extensions of chick lens beta B1 crystallin.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385100

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract

28 November 2018

1 reference

12 December 2020

Deamidation of Human βB1 Alters the Elongated Structure of the Dimer

1 reference

12 December 2020

Short-range order of crystallin proteins accounts for eye lens transparency

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the human CRYB2 gene locus (22q11.2)

1 reference

12 December 2020

1 reference

12 December 2020

Optical quality during crystalline lens growth (reply)

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F344212

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/344212

1 reference

1 reference

1 reference

PubMed publication ID

12360425

1 reference