(Q36926704)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

7

Jamie E Craig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Kathryn Hattersley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Salil A Lachke

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Kate J Laurie

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Richard L Maas

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

David A Mackey

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

publication date

30 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

1799-1804

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

15 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=2563027

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Calpains: enzymes of vision?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Migfilin and its binding partners: from cell biology to human diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Calpains: targets of cataract prevention?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Myc-interacting protein 1 target gene profile: a link to microtubules, extracellular signal-regulated kinase, and cell growth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

ESEfinder: A web resource to identify exonic splicing enhancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Actin binding proteins: regulation of cytoskeletal microfilaments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Alteration in the ubiquitin structure and function in the human lens: a possible mechanism of senile cataractogenesis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Transcription factor MIZ-1 is regulated via microtubule association

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural 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=2563027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Ubiquitin-proteasome pathway function is required for lens cell proliferation and differentiation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Calpain may contribute to hereditary cataract formation in sheep.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

Defining a link between gap junction communication, proteolysis, and cataract formation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563027

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=2563027

4 September 2018

Ca++-induced cataract

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18843385

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18843385

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18843385

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18843385%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference