(Q36931113)

17 August 2017

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes (English)

1 reference

17 August 2017

11

Elena V Semina

1 reference

17 August 2017

Linda M Reis

1

1 reference

17 August 2017

Rebecca C Tyler

2

1 reference

17 August 2017

Sanaa Muheisen

3

1 reference

17 August 2017

Victor Raggio

4

1 reference

17 August 2017

Leonardo Salviati

5

1 reference

17 August 2017

Dennis P Han

6

1 reference

17 August 2017

Deborah Costakos

7

1 reference

17 August 2017

Hagith Yonath

8

1 reference

17 August 2017

Sarah Hall

9

1 reference

17 August 2017

Patricia Power

10

1 reference

17 August 2017

19 March 2013

1 reference

17 August 2017

1 reference

17 August 2017

132

1 reference

17 August 2017

761-770

1 reference

17 August 2017

7

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-013-1289-0

17 August 2017

0 references

cites work

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Exome sequencing as a tool for Mendelian disease gene discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Evaluation of pediatric cataracts and systemic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

First mutation in the βA2-crystallin encoding gene is associated with small lenses and age-related cataracts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Cat-Map: putting cataract on the map

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Molecular characteristics of inherited congenital cataracts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Genetics of crystallins: cataract and beyond.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Congenital cataracts and their molecular genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Identification of global gene expression differences between human lens epithelial and cortical fiber cells reveals specific genes and their associated pathways important for specialized lens cell functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Nonsense-mediated decay approaches the clinic

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

EMBRYOLOGY AND MORPHOLOGY OF THE LENS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Structure of the crystallins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3683360

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

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-013-1289-0

Genetic linkage analyses andCx50mutation detection in a large multiplex Chinese family with hereditary nuclear cataract

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-013-1289-0

A novel CRYAB mutation resulting in multisystemic disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23508780

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23508780

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-013-1289-0

1 reference

17 August 2017

1 reference

17 August 2017

1 reference