(Q35204968)

7 August 2017

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma (English)

1 reference

7 August 2017

0 references

1 reference

6

1 reference

7 August 2017

25

Eamonn Sheridan

0 references

Ian M. Carr

13

Ian M Carr

0 references

Chris F. Inglehearn

27

Chris F Inglehearn

0 references

James A Poulter

14

James A Poulter

0 references

Carmel Toomes

21

Carmel Toomes

0 references

Adam K Rudkin

Adam Rudkin

2

0 references

David Parry

David A Parry

3

0 references

Narcis Fernandez-Fuentes

Narcis Fernandez-Fuentes

0 references

Kathryn P. Burdon

Kathryn P Burdon

4

0 references

Jamie E Craig

28

Jamie E Craig

1 reference

7 August 2017

Kamron Khan

1

1 reference

7 August 2017

Martin McKibbin

5

1 reference

7 August 2017

Zakia I A Abdelhamed

7

1 reference

7 August 2017

James S Muecke

8

1 reference

7 August 2017

Kate J Laurie

10

1 reference

7 August 2017

Mike Shires

11

1 reference

7 August 2017

Rhys Fogarty

12

1 reference

7 August 2017

Joanne E Morgan

15

1 reference

7 August 2017

Moin D Mohamed

16

1 reference

7 August 2017

Hussain Jafri

17

1 reference

7 August 2017

Yasmin Raashid

18

1 reference

7 August 2017

Ngy Meng

19

1 reference

7 August 2017

Horm Piseth

20

1 reference

7 August 2017

Robert J Casson

22

1 reference

7 August 2017

Graham R Taylor

23

1 reference

7 August 2017

Michael Hammerton

24

1 reference

7 August 2017

Eamonn Sheridan

25

1 reference

7 August 2017

Colin A Johnson

26

1 reference

7 August 2017

Manir Ali

29

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 September 2011

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

89

1 reference

7 August 2017

3

1 reference

7 August 2017

464-473

1 reference

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Dindel: accurate indel calls from short-read data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

The C. elegans peroxidasin PXN-2 is essential for embryonic morphogenesis and inhibits adult axon regeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Transcriptome analysis of human cancer reveals a functional role of heme oxygenase-1 in tumor cell adhesion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

A missense mutation in CRYBA4 associated with congenital cataract and microcornea.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Peroxidasin is secreted and incorporated into the extracellular matrix of myofibroblasts and fibrotic kidney

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

The Sequence Alignment/Map format and SAMtools

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Null mutations in LTBP2 cause primary congenital glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Identification and characterization of VPO1, a new animal heme-containing peroxidase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Oxidative stress, lens gap junctions, and cataracts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Molecular and developmental mechanisms of anterior segment dysgenesis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Comparative protein structure modeling by combining multiple templates and optimizing sequence-to-structure alignments.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

M4T: a comparative protein structure modeling server.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

A review of anterior segment dysgeneses.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

The role of oxidative stress in glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

CRYBB1 mutation associated with congenital cataract and microcornea

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

UV Rays, the prooxidant/antioxidant imbalance in the cornea and oxidative eye damage

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Anterior segment dysgenesis and the developmental glaucomas are complex traits

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

The leucine-rich repeat as a protein recognition motif

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Protein structure prediction and structural genomics

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

A novel melanoma gene (MG50) encoding the interleukin 1 receptor antagonist and six epitopes recognized by human cytolytic T lymphocytes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Isolation of differentially expressed cDNAs from p53-dependent apoptotic cells: activation of the human homologue of the Drosophila peroxidasin gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Assignment of a human melanoma associated gene MG50 (D2S448) to chromosome 2p25.3 by fluorescence in situ hybridization

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

von Willebrand factor shares a distinctive cysteine-rich domain with thrombospondin and procollagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

The human PAX6 gene is mutated in two patients with aniridia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Disulfide-linked high molecular weight protein associated with human cataract

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

A survey of visual impairment and blindness in children attending four schools for the blind in Cambodia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Sensitivity of ocular anterior chamber tissues to oxidative damage and its relevance to the pathogenesis of glaucoma.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Expression pattern of LRR and Ig domain-containing protein (LRRIG protein) in the early mouse embryo

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Oxidative DNA damage in the human trabecular meshwork: clinical correlation in patients with primary open-angle glaucoma.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Oxidative stress markers in aqueous humor of glaucoma patients

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Glutathione peroxidase-1 deficiency leads to increased nuclear light scattering, membrane damage, and cataract formation in gene-knockout mice

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

A large-scale in situ screen provides molecular evidence for the induction of eye anterior segment structures by the developing lens

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169830

Oxidative modification of lens crystallins by H2O2 and chelated iron

26 September 2018

1 reference

12 December 2020

The immunoglobulin superfamily: an insight on its tissular, species, and functional diversity

1 reference

12 December 2020

The effect of photochemical stress upon the lenses of normal and glutathione peroxidase-1 knockout mice

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

The lens organizes the anterior segment: specification of neural crest cell differentiation in the avian eye

1 reference

12 December 2020

Lipid peroxide and reactive oxygen species generating systems of the crystalline lens

1 reference

12 December 2020

10.1016/J.AJHG.2011.08.005

Identifiers

DOI

1 reference

7 August 2017

1 reference

7 August 2017

1 reference