(Q34912544)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

title

Myocilin mutations in black South Africans with POAG (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

author name string

Benjamin T Whigham

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Susan E I Williams

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Yutao Liu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Robyn M Rautenbach

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Trevor R Carmichael

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Joshua Wheeler

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Ari Ziskind

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Xuejun Qin

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Silke Schmidt

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Michele Ramsay

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Michael A Hauser

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

R Rand Allingham

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

publication date

27 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

page(s)

1064-1069

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552496%20AND%20SRC:MED&resulttype=core&format=json

Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

31 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=3086605

The genetic structure and history of Africans and African Americans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

The genetics of primary open-angle glaucoma: a review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Regulation of myocilin-associated exosome release from human trabecular meshwork cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Myocilin allele-specific glaucoma phenotype database

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Genetic dissection of myocilin glaucoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

SIFT: Predicting amino acid changes that affect protein function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Primary Open-Angle Glaucoma in Blacks: A Review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Temba glaucoma study: a population-based cross-sectional survey in urban South Africa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Human non-synonymous SNPs: server and survey

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Glaucoma in Zulus: a population-based cross-sectional survey in a rural district in South Africa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Primer3 on the WWW for general users and for biologist programmers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

A cellular assay distinguishes normal and mutant TIGR/myocilin protein

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Identification of a gene that causes primary open angle glaucoma.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Number of people with glaucoma worldwide

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

A simple salting out procedure for extracting DNA from human nucleated cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Coiled-coil targeting of myocilin to intracellular membranes.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Founder TIGR/myocilin mutations for glaucoma in the Québec population

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Primary open-angle glaucoma

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086605

Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21552496

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:21552496%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

PubMed publication ID

21552496

1 reference