| Mutations including the promoter region of myocilin/TIGR gene. | |
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MedLine Citation:
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PMID: 15483649 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations in the MYOC/TIGR gene are responsible for autosomal dominant primary open angle glaucoma (POAG). Almost all mutations responsible for POAG have been detected in the coding region (in particular at exon 3). By using the techniques of PCR, SSCP, automated sequencing and restriction analysis, we have studied 79 patients suffering from glaucoma. We have found five patients with sequence variants in the consensus region of the promoter. These sequence variants might be involved in the altered association between the consensus region and the corresponding transcription factor. This possibility might be favouring the association of other transcription factors, which would operate as activators or inhibitors of the transcription, altering the MYOC/TIGR expression. |
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Authors:
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Maria Saura; Montse Cabana; Carmen Ayuso; Diana Valverde |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 13 ISSN: 1018-4813 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2005 Mar |
Date Detail:
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Created Date: 2005-02-21 Completed Date: 2005-07-12 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 384-7 Citation Subset: IM |
Affiliation:
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1Area de Genética, Facultad de Ciencias, Lagoas-Marcosende 36200, Universidad de Vigo, Spain. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Consensus Sequence Cytoskeletal Proteins / genetics* Eye Proteins / genetics* Female Glaucoma, Open-Angle / genetics* Glycoproteins / genetics* Humans Male Point Mutation Promoter Regions, Genetic / genetics Trabecular Meshwork |
| Chemical | |
Reg. No./Substance:
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0/Cytoskeletal Proteins; 0/Eye Proteins; 0/Glycoproteins; 0/trabecular meshwork-induced glucocorticoid response protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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