Myoc Gene
Mostrando 1-8 de 8 artigos, teses e dissertações.
-
1. Avaliação de alelos mutantes dos genes MYOC E CYYP1B1 em pacientes portadores de glaucoma primário de ângulo aberto / Evaluation of mutant alleles of MYOC and CYP1B1 genes in patients with primary open-angle glaucoma
Glaucoma comprises a group of heterogeneous optic neuropathies characterized by excavation of the optic disc and progressive loss of visual field, representing a major global cause of irreversible blindness. In 1997, the Myocilin gene (MYOC) was discovered, and mutations in this gene were involved in the development of primary open-angle glaucoma (POAG) and
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 29/02/2012
-
2. Correlação entre genótipo-fenótipo em famílias brasileiras com glaucoma primário de ângulo aberto determinada por mutações no exon 3 do gene TIGR/MYOC
OBJETIVO: Identificar nos representantes de famílias com glaucoma primário de ângulo aberto (GPAA) mutações no exon 3 do gene TIGR/MYOC e avaliar a expressão fenotípica associada às mutações encontradas em seus respectivos núcleos familiares. MÉTODOS: Setenta e oito pacientes (81,2%), com pelo menos um representante na família com GPAA, e dezoit
Arquivos Brasileiros de Oftalmologia. Publicado em: 2006-06
-
3. Avaliação da frequencia e do tipo de mutações no gene TIGR/MYOC em uma população brasileira com glaucoma primario de angulo aberto do tipo juvenil
Não informado.
Publicado em: 2001
-
4. Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function
Glaucoma is a heterogeneous eye disease and a major cause of blindness worldwide. Recently, primary open angle glaucoma (POAG)-associated mutations have been found in the trabecular meshwork inducible glucocorticoid response gene (TIGR), also known as the myocilin gene (MYOC), at the GLC1A locus on chromosome 1q21-q31. These mutations occurred in a subset of
American Society for Microbiology.
-
5. Genetically Increasing Myoc Expression Supports a Necessary Pathologic Role of Abnormal Proteins in Glaucoma
Despite the importance of MYOC for glaucoma, the protein's normal function(s) and the pathogenic mechanism(s) of MYOC mutations are not clear. Elevated intraocular pressure (IOP) and glaucoma are sometimes induced by corticosteroids, and corticosteroid use can result in substantially increased MYOC expression. It has been suggested, therefore, that steroid-i
American Society for Microbiology.
-
6. Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (Pro370Leu) in a French-Canadian family. These mutations were no
-
7. Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene
“Early-onset glaucoma” refers to genetically heterogeneous conditions for which glaucoma manifests at age 5–40 years and for which only a small subset is molecularly characterized. We studied the role of MYOC, CYP1B1, and PITX2 in a population (n=60) affected with juvenile or early-onset glaucoma from the greater Toronto area. By a combination of singl
The American Society of Human Genetics.
-
8. Apolipoprotein E–Promoter Single-Nucleotide Polymorphisms Affect the Phenotype of Primary Open-Angle Glaucoma and Demonstrate Interaction with the Myocilin Gene
Primary open-angle glaucoma (POAG) is an optic neuropathy that has a high worldwide prevalence and that shows strong evidence of complex inheritance. The myocilin (MYOC) gene is the only one that has thus far been shown to have mutations in patients with POAG. Apolipoprotein E (APOE) plays an essential role in lipid metabolism, and the APOE gene has been inv
The American Society of Human Genetics.