Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family (Q33758608)

29 July 2017

title

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

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29 July 2017

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9

Javed Akram

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29 July 2017

11

Sheikh Riazuddin

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29 July 2017

2

S Amer Riazuddin

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29 July 2017

Haiba Kaul

1

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29 July 2017

Mariam Shahid

3

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29 July 2017

Samra Kousar

4

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29 July 2017

Nadeem H Butt

5

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29 July 2017

Ahmad U Zafar

6

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29 July 2017

Shaheen N Khan

7

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29 July 2017

Tayyab Husnain

8

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29 July 2017

J Fielding Hejtmancik

10

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29 July 2017

publication date

24 March 2010

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29 July 2017

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29 July 2017

volume

16

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29 July 2017

page(s)

511-517

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EPHA2 is associated with age-related cortical cataract in mice and humans

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

The EPHA2 gene is associated with cataracts linked to chromosome 1p

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Loss of ephrin-A5 function disrupts lens fiber cell packing and leads to cataract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Over-expression of Eph and ephrin genes in advanced ovarian cancer: ephrin gene expression correlates with shortened survival

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Crystal structure of an ephrin ectodomain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Molecular solutions to mammalian lens transparency.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

The genetics of childhood cataract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Easy calculations of lod scores and genetic risks on small computers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Magnitude and causes of blindness in the developing world

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

Avoiding recomputation in linkage analysis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846848

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

30 October 2018

1 reference

12 December 2020

Molecular genetics of cataract

1 reference

12 December 2020

Congenital ocular blindness in children, 1945 to 1984

1 reference

12 December 2020

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

1 reference

12 December 2020

A locus for autosomal dominant posterior polar cataract on chromosome 1p

1 reference

12 December 2020

Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

1 reference

12 December 2020

Identifiers

PMC publication ID

2846848

1 reference

29 July 2017

1 reference