Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene. (Q37414503)

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2 January 2020

title

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene (English)

1 reference

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2 January 2020

4

Thomas Illig

0 references

Norman Klopp

3

object named as

Norman Klopp

1 reference

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2 January 2020

author name string

Silke Pauli

1

1 reference

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2 January 2020

Torben Söker

2

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2 January 2020

Wolfgang Engel

5

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2 January 2020

Jochen Graw

6

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2 January 2020

Thomas Illig

4

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2 January 2020

publication date

19 June 2007

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2 January 2020

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2 January 2020

volume

13

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2 January 2020

page(s)

962-967

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Subfertility in mice harboring a mutation in betaB2-crystallin

2 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=2774456

Elongation of axons during regeneration involves retinal crystallin beta b2 (crybb2).

6 September 2017

1 reference

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Domain interaction sites of human lens betaB2-crystallin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities.

6 September 2017

1 reference

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Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

The genetic and molecular basis of congenital eye defects

6 September 2017

1 reference

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6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

Sequence and spatial expression of zebrafish (Danio rerio) alphaA-crystallin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

Expression of betaB(2)-crystallin mRNA and protein in retina, brain, and testis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

NPS@: network protein sequence analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

Philly mouse: a new model of hereditary cataract

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

A simple salting out procedure for extracting DNA from human nucleated cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

ESyPred3D: Prediction of proteins 3D structures

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774456

The Endotoxin Receptor TLR4 Polymorphism Is Not Associated With Diabetes or Components of the Metabolic Syndrome

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17653036

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17653036

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

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2 January 2020

PubMed publication ID

17653036

1 reference