(Q36741962)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

A missense mutation in LIM2 causes autosomal recessive congenital cataract (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

0 references

Surya Prakash G Ponnam

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Kekunnaya Ramesha

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Sushma Tejwani

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Jyoti Matalia

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Chitra Kannabiran

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

23 June 2008

1 reference

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9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

1204-1208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract

9 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Genetic origins of 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=2442473

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Childhood blindness in India: a population based perspective

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Localization of lens intrinsic membrane protein MP19 and mutant protein MP19(To3) using fluorescent expression vectors.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish 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=2442473

Accounting for human polymorphisms predicted to affect protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

MP20, the second most abundant lens membrane protein and member of the tetraspanin superfamily, joins the list of ligands of galectin-3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Predicting deleterious amino acid substitutions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Blindness in the Indian state of Andhra Pradesh

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Identification of an 18,000-dalton protein in mammalian lens fiber cell membranes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Causes and prevalence of visual impairment among adults in the United States

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Does lens intrinsic membrane protein MP19 contain a membrane-targeting signal?

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Cloning and expression of a major rat lens membrane protein, MP20.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442473

Identification of the calmodulin-binding components in bovine lens plasma membranes

5 September 2018

1 reference

12 December 2020

Distribution of MP17 in isolated lens fibre membranes

1 reference

12 December 2020

Identity of the calmodulin-binding proteins in bovine lens plasma membranes

1 reference

12 December 2020

The distribution of the fiber cell intrinsic membrane proteins MP20 and connexin46 in the bovine lens

1 reference

12 December 2020

Cell-to-cell communication in a differentiating ovine lens culture system

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid assessment of avoidable blindness in Kunming, china

1 reference

12 December 2020

Structural arrangement of lens fiber cell plasma membrane protein MP20

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18596884%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference