A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract (Q37294274)

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5 February 2020

title

A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract (English)

1 reference

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5 February 2020

0 references

1 reference

8

Gary Hin-Fai Yam

1 reference

19 August 2017

7

Dennis Shun-Chiu Lam

1 reference

19 August 2017

Li-Yun Zhang

1

1 reference

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5 February 2020

Bo Gong

2

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5 February 2020

Jian-Ping Tong

3

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5 February 2020

Dorothy Shu-Ping Fan

4

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5 February 2020

Sylvia Wai-Yee Chiang

5

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5 February 2020

Dinghua Lou

6

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5 February 2020

Chi-Pui Pang

9

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5 February 2020

Dennis Shun-Chiu Lam

7

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5 February 2020

Gary Hin-Fai Yam

8

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5 February 2020

publication date

6 August 2009

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5 February 2020

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5 February 2020

volume

15

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5 February 2020

page(s)

1521-1529

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Crystallin gene mutations in Indian families with inherited pediatric cataract

5 February 2020

cites work

1 reference

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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

6 September 2017

1 reference

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Congenital cataracts and their molecular genetics

6 September 2017

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

6 September 2017

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CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

6 September 2017

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Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state

6 September 2017

1 reference

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Genetic origins of cataract

6 September 2017

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Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

6 September 2017

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Contributions of hydrophobic domain interface interactions to the folding and stability of human gammaD-crystallin

6 September 2017

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A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts

6 September 2017

1 reference

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Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene.

6 September 2017

1 reference

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Molecular genetic basis of inherited cataract and associated phenotypes

6 September 2017

1 reference

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

6 September 2017

1 reference

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The morphology and natural history of childhood cataracts

6 September 2017

1 reference

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

6 September 2017

1 reference

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Altered aggregation properties of mutant gamma-crystallins cause inherited cataract

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

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The genetics of childhood cataract

6 September 2017

1 reference

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Molecular basis of a progressive juvenile-onset hereditary cataract

6 September 2017

1 reference

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Clinical and genetic heterogeneity in autosomal dominant cataract

6 September 2017

1 reference

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

6 September 2017

1 reference

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A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.

6 September 2017

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Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis

14 September 2017

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Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

26 June 2018

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2005 Gregg Lecture: Congenital cataract--from rubella to genetics

3 September 2018

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Interdomain side-chain interactions in human gammaD crystallin influencing folding and stability

3 September 2018

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Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin

3 September 2018

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The P23T cataract mutation causes loss of solubility of folded gammaD-crystallin.

3 September 2018

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Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children.

3 September 2018

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Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene.

3 September 2018

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Birth prevalence of visually significant infantile cataract in a defined U.S. population

3 September 2018

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Aetiology of congenital and paediatric cataract in an Australian population

3 September 2018

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Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK.

3 September 2018

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A novel locus of coralliform cataract mapped to chromosome 2p24-pter

3 September 2018

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12 December 2020

A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family

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12 December 2020

A novel deletion variant of gammaD-crystallin responsible for congenital nuclear cataract

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12 December 2020

The occurrence of congenital cataract in western Sweden

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12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19668596%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

PubMed publication ID

19668596

1 reference