Crystallin gene mutations in Indian families with inherited pediatric cataract (Q24336750)

GOA release 2020-03-11

author name string

Ramachandran Ramya Devi

1

Ramachandran Ramya

Devi

1 reference

20 October 2023

Wenliang Yao

2

Wenliang

Yao

1 reference

20 October 2023

Perumalsamy Vijayalakshmi

3

Perumalsamy

Vijayalakshmi

1 reference

20 October 2023

Yuri V Sergeev

4

Yuri V

Sergeev

1 reference

20 October 2023

Periasamy Sundaresan

5

Periasamy

Sundaresan

1 reference

20 October 2023

J Fielding Hejtmancik

6

J Fielding

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

Hejtmancik

1 reference

20 October 2023

language of work or name

English

0 references

publication date

2008

0 references

published in

Molecular Vision

0 references

volume

14

0 references

page(s)

1157-70

0 references

cites work

1 reference

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

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19 March 2017

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A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

19 March 2017

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

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

19 March 2017

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

19 March 2017

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

19 March 2017

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A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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Expression of the murine alpha B-crystallin gene is not restricted to the lens

19 March 2017

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19 March 2017

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

19 March 2017

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Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations

19 March 2017

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A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family

19 March 2017

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Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population

19 March 2017

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Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families

19 March 2017

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CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype

19 March 2017

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Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract

19 March 2017

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A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

19 March 2017

1 reference

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

19 March 2017

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

19 March 2017

1 reference

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

19 March 2017

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

19 March 2017

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

19 March 2017

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Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily

19 March 2017

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19 March 2017

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

19 March 2017

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Genetic origins of cataract

27 September 2017

1 reference

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Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

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

27 September 2017

1 reference

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A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.

27 September 2017

1 reference

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Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

27 September 2017

1 reference

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A locus for isolated cataract on human Xp.

27 September 2017

1 reference

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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=2435160

The genetics of childhood cataract

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Folding pattern of the alpha-crystallin domain in alphaA-crystallin determined by site-directed spin labeling.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Epidemiology of cataract - a major cause of preventable blindness.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

The etiology of congenital cataracts. A survey of 386 cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

The amino acid sequence of the A chain of human alpha-crystallin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Epidemiology of cataract in childhood: a global perspective

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Domain structure and evolution in alpha-crystallins and small heat-shock proteins.

30 May 2018

1 reference

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Prediction of protein side-chain conformation by packing optimization.

30 May 2018

1 reference

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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.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Structure and function of the conserved domain in alphaA-crystallin. Site-directed spin labeling identifies a beta-strand located near a subunit interface

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Predicting protein mutant energetics by self-consistent ensemble optimization.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2435160

Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family

29 November 2018

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12 December 2020

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family

1 reference

12 December 2020

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12 December 2020

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

12 December 2020

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

1 reference

12 December 2020

A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity

1 reference

12 December 2020

Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

4551109

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference