(Q44552299)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255486%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family (English)

1 reference

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21 February 2020

12

1 reference

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21 February 2020

Emmanuelle Souzeau

4

1 reference

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21 February 2020

Tim K Chataway

5

1 reference

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21 February 2020

Matthew J Sykes

6

1 reference

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21 February 2020

Jamie E Craig

10

1 reference

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21 February 2020

author name string

Kate J Laurie

1

1 reference

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21 February 2020

Alpana Dave

2

1 reference

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21 February 2020

Tania Straga

3

1 reference

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21 February 2020

Theresa Casey

7

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21 February 2020

Theodosia Teo

8

1 reference

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21 February 2020

John Pater

9

1 reference

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21 February 2020

Shiwani Sharma

11

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21 February 2020

publication date

17 January 2013

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21 February 2020

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21 February 2020

volume

34

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21 February 2020

issue

3

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21 February 2020

page(s)

435-438

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A method and server for predicting damaging missense mutations

21 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Crystallins in the eye: Function and pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Subunit exchange of small heat shock proteins. Analysis of oligomer formation of alphaA-crystallin and Hsp27 by fluorescence resonance energy transfer and site-directed truncations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Comparison of Stain-Free gels with traditional immunoblot loading control methodology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Congenital cataracts and their molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Alpha-crystallin can function as a molecular chaperone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Visible fluorescent detection of proteins in polyacrylamide gels without staining

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Crystal structures of truncated alphaA and alphaB crystallins reveal structural mechanisms of polydispersity important for eye lens function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Role of the conserved SRLFDQFFG region of alpha-crystallin, a small heat shock protein. Effect on oligomeric size, subunit exchange, and chaperone-like activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

NHS-A isoform of the NHS gene is a novel interactor of ZO-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Cryoelectron microscopy and EPR analysis of engineered symmetric and polydisperse Hsp16.5 assemblies reveals determinants of polydispersity and substrate binding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

Aetiology of congenital and paediatric cataract in an Australian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22260

21 January 2018

Identifiers

DOI

10.1002/HUMU.22260

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255486%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference