| pubmed-article:12126946 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12126946 | lifeskim:mentions | umls-concept:C0035334 | lld:lifeskim |
| pubmed-article:12126946 | lifeskim:mentions | umls-concept:C0752125 | lld:lifeskim |
| pubmed-article:12126946 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
| pubmed-article:12126946 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:12126946 | pubmed:dateCreated | 2002-7-19 | lld:pubmed |
| pubmed-article:12126946 | pubmed:abstractText | Autosomal dominant spinocerebellar ataxia 7 is associated with retinal degeneration. SCA7, the causative gene, encodes ataxin-7, a ubiquitous 892 amino acid protein of variable sub-cellular localization, and the disease is due to expansion of an unstable CAG repeat in the coding region of the gene. Recent increases in understanding of the mechanisms ofSCA7 -related retinopathy from in vitro and murine model studies prompted us to perform a detailed study of the retinal phenotype of affected members of a family with SCA7 mutation (45-47 CAG repeats). There was a spectrum of severity from mild to severe dysfunction. Early functional abnormalities were at both photoreceptor and post-receptoral levels. When cone and rod photoreceptor dysfunction was present, it was approximately equal. Regional retinal dysfunction was evident: there was more dysfunction centrally than peripherally with least effect in the midperiphery. In vivo cross-sectional retinal images with optical coherence tomography showed an early disease stage of altered foveal lamination (abnormal area of low reflectivity splitting the outer retina-choroidal complex) accompanied in the parafovea by reduced retinal thickness. Later disease stages showed foveal and parafoveal retinal thinning. The phenotype in this family with SCA7 is that of a cone-rod dystrophy. These observations increase interest in a recent hypothesis that ataxin-7 may interfere with the function of CRX (cone-rod homeobox), a transcription factor regulating photoreceptor genes and a cause of a cone-rod dystrophy phenotype in man. | lld:pubmed |
| pubmed-article:12126946 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12126946 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12126946 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12126946 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12126946 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:12126946 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12126946 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12126946 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12126946 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:12126946 | pubmed:issn | 0014-4835 | lld:pubmed |
| pubmed-article:12126946 | pubmed:author | pubmed-author:JacobsonSamue... | lld:pubmed |
| pubmed-article:12126946 | pubmed:author | pubmed-author:CideciyanArtu... | lld:pubmed |
| pubmed-article:12126946 | pubmed:author | pubmed-author:AlemanTomas... | lld:pubmed |
| pubmed-article:12126946 | pubmed:author | pubmed-author:BriceAlexisA | lld:pubmed |
| pubmed-article:12126946 | pubmed:author | pubmed-author:VolpeNicholas... | lld:pubmed |
| pubmed-article:12126946 | pubmed:author | pubmed-author:StevaninGiova... | lld:pubmed |
| pubmed-article:12126946 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12126946 | pubmed:volume | 74 | lld:pubmed |
| pubmed-article:12126946 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12126946 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12126946 | pubmed:pagination | 737-45 | lld:pubmed |
| pubmed-article:12126946 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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| pubmed-article:12126946 | pubmed:meshHeading | pubmed-meshheading:12126946... | lld:pubmed |
| pubmed-article:12126946 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:12126946 | pubmed:articleTitle | Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. | lld:pubmed |
| pubmed-article:12126946 | pubmed:affiliation | Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA. | lld:pubmed |
| pubmed-article:12126946 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12126946 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:12126946 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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