(Q34057609)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11026970%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

review article

1 reference

title

The genetics of open-angle glaucoma: the story of GLC1A and myocilin (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11026970%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11026970%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

author name string

Alward WL

series ordinal

1

1 reference

30 July 2017

publication date

1 June 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11026970%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11026970%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

14 ( Pt 3B)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11026970%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

429-436

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11026970%20AND%20SRC:MED&resulttype=core&format=json

Number of people with glaucoma worldwide

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

STUDIES ON GLAUCOMA RELATIVES.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Identification of a gene that causes primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Adenoviral reporter gene transfer to the human trabecular meshwork does not alter aqueous humor outflow. Relevance for potential gene therapy of glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma

21 January 2018

2 references

https://api.crossref.org/works/10.1038%2FEYE.2000.127

21 January 2018

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

The epidemiology of open-angle glaucoma: a review

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma.

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

Positional cloning moves from perditional to traditional

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

Novel mutations in the TIGR gene in early and late onset open angle glaucoma

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

Formation of the extracellular mucous matrix of olfactory neuroepithelium: Identification of partially glycosylated and nonglycosylated precursors of olfactomedin

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

Characterization and comparison of the human and mouse GLC1A glaucoma genes

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2000.127

7 January 2021

Identifiers

DOI

10.1038/EYE.2000.127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11026970%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 October 2019

1040332393

0 references

1 reference