Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts (Q24299315)

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Language	Label	Description	Also known as
English	Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts	scientific article

Statements

instance of

scholarly article

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title

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts (English)

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author name string

E Nandrot

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1

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C Slingsby

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2

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A Basak

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3

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M Cherif-Chefchaouni

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4

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B Benazzouz

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5

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Y Hajaji

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6

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S Boutayeb

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7

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O Gribouval

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8

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L Arbogast

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9

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A Berraho

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10

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M Abitbol

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11

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L Hilal

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12

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original language of film or TV show

English

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publication date

April 2003

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published in

Journal of Medical Genetics

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volume

40

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issue

4

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page(s)

262-7

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cites work

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

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

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

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

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

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

Crystal cataracts: human genetic cataract caused by protein crystallization

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

Molecular basis of a progressive juvenile-onset hereditary cataract

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

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

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

Connexin46 mutations in autosomal dominant congenital cataract

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

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19 March 2017

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Prediction of the Secondary Structure of Proteins from their Amino Acid Sequence

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Conformational change and destabilization of cataract gammaC-crystallin T5P mutant

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Structure of the crystallins

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

The crystallins: genes, proteins and diseases

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Empirical Predictions of Protein Conformation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

19 March 2017

Faster sequential genetic linkage computations

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

7 April 2017

Easy calculations of lod scores and genetic risks on small computers

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735438

retrieved

7 April 2017

Identifiers

DOI

10.1136/JMG.40.4.262

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

842184

OpenCitations bibliographic resource ID

842184

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

842184

PMC publication ID

1735438

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

842184

PubMed publication ID

12676897

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

842184

 

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