(Q36606709)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

Anastasios G P Konstas

2

object named as

Anastasios G P Konstas

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Mary K Wirtz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

John R Samples

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Kostantinos Kaltsos

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Athanasios Economou

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Antonios Dimopoulos

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Irene Georgiadou

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Michael B Petersen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

25 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

774-781

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

6 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=2358920

Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

One-thousand-and-one substrates of protein kinase CK2?

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Phosphorylation disrupts the central helix in Op18/stathmin and suppresses binding to tubulin

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

A cellular assay distinguishes normal and mutant TIGR/myocilin protein

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Identification of a gene that causes primary open angle glaucoma.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Epidemiology of glaucoma in northern Europe.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

The prevalence of primary open-angle glaucoma in a population-based study in The Netherlands. The Rotterdam Study.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Pseudoexfoliation glaucoma in Greece

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

The middle-Norway eye-screening study. II. Prevalence of simple and capsular glaucoma

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Variants of the myocilin gene in Japanese patients with normal-tension glaucoma.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

The glaucoma mystery from ancient times to the 21st century. The glaucoma mystery: ancient concepts.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2358920

Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India

20 September 2018

1 reference

12 December 2020

Prevalence of open-angle glaucoma in Greece: the Thessaloniki Eye Study

1 reference

12 December 2020

Pseudoexfoliation syndrome prevalence in Greek patients with cataract and its association to glaucoma and coronary artery disease

1 reference

12 December 2020

A conserved helix-unfolding motif in the naturally unfolded proteins

1 reference

12 December 2020

TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449353%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

PubMed publication ID

18449353

1 reference