|
GLAUCOMA 1, OPEN ANGLE, A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Glaucoma, Primary Open Angle
|
|
0.060 |
GeneticVariation
|
BEFREE |
To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations.
|
23304066 |
2012 |
|
Glaucoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The incidence of glaucoma and the Thr377Met MYOC mutation in this population is much higher than that reported for other European populations.
|
18449353 |
2008 |
|
Glaucoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
A case-control design was adopted.Subjects from Australian pedigrees known to have either the Gln368STOP myocilin mutation (cutoff age, <40 years) or the Thr377Met myocilin mutation (cutoff age, <30 years) were examined for signs of glaucoma.
|
17210861 |
2007 |
|
Glaucoma, Primary Open Angle
|
|
0.060 |
GeneticVariation
|
BEFREE |
Genomic DNA of 24 POAG-affected individuals from nine pedigrees with the Thr377Met mutation and 104 unaffected family members was genotyped with six microsatellite markers and four single nucleotide polymorphisms.
|
17417609 |
2007 |
|
Glaucoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.
|
17417609 |
2007 |
|
Glaucoma, Primary Open Angle
|
|
0.060 |
GeneticVariation
|
BEFREE |
Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way.
|
16431959 |
2006 |
|
Glaucoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
Our results further support the evidence that the Thr377Met mutation in MYOC may represent a susceptibility allele for glaucoma.
|
15823921 |
2005 |
|
Glaucoma, Primary Open Angle
|
|
0.060 |
GeneticVariation
|
BEFREE |
Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma.
|
15823921 |
2005 |
|
Glaucoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
In addition, patients with glaucoma with the Thr377Met mutation were more likely to have undergone glaucoma drainage surgery.
|
12912696 |
2003 |
|
Glaucoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
Carriers of the myocilin Thr377Met mutation have reduced outflow facility, which may be detected prior to developing glaucoma.
|
12782842 |
2003 |
|
Glaucoma, Primary Open Angle
|
|
0.060 |
GeneticVariation
|
BEFREE |
The GLC1A Thr377Met mutation is associated with POAG that, in the pedigrees studied, had a younger age at onset and higher peak intraocular pressure than in pedigrees with the more common Gln368STOP mutation.
|
12912696 |
2003 |
|
Glaucoma, Primary Open Angle
|
|
0.060 |
GeneticVariation
|
BEFREE |
Two heterozygous mutations Gly367Arg (1099G>A) and Thr377Met (1130C>T) were identified in exon3 of the MYOC gene of probands 40-1 and 51-1 respectively, from material obtained from the 107 unrelated subjects with POAG.
|
14627955 |
2003 |
|
Ocular Hypertension
|
|
0.020 |
GeneticVariation
|
BEFREE |
A 34-year-old woman with marked ocular hypertension was found to carry Gln368STOP and Thr377Met MYOC mutations.
|
23304066 |
2012 |
|
Ocular Hypertension
|
|
0.020 |
GeneticVariation
|
BEFREE |
From the 4 pedigrees carrying the Thr377Met mutation, 23 individuals with either ocular hypertension (OHT) or POAG were found, with a mean +/- SD age at diagnosis of 41.2 +/- 11.5 years, and a mean peak intraocular pressure of 31.7 +/- 9.9 mm Hg.
|
12912696 |
2003 |
|
Retinal Vein Occlusion
|
|
0.010 |
GeneticVariation
|
BEFREE |
The possible interaction of factors contributing to RVO in conjunction with the Thr377Met mutation warrants further investigation.
|
15823921 |
2005 |
|
Intraocular pressure disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
The GLC1A Thr377Met mutation is associated with POAG that, in the pedigrees studied, had a younger age at onset and higher peak intraocular pressure than in pedigrees with the more common Gln368STOP mutation.
|
12912696 |
2003 |