Fish-Eye Disease

Common Name(s)

Fish-Eye Disease

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fish-Eye Disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fish-Eye Disease" returned 9 free, full-text research articles on human participants. First 3 results:

Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease.
 

Author(s): B Vanloo, F Peelman, K Deschuymere, J Taveirne, A Verhee, C Gouyette, C Labeur, J Vandekerckhove, J Tavernier, M Rosseneu

Journal: J. Lipid Res.. 2000 May;41(5):752-61.

 

In order to test the hypothesis that fish-eye disease (FED) is due to a deficient activation of lecithin:cholesterol acyltransferase (LCAT) by its co-factor apolipoprotein (apo) A-I, we overexpressed the natural mutants T123I, N131D, N391S, and other engineered mutants in Cos-1 cells. ...

Last Updated: 31 Dec 1969

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A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression.
 

Author(s): A F Winder, J S Owen, P H Pritchard, D Lloyd-Jones, D T Vallance, P White, R Wray

Journal: J. Clin. Pathol.. 1999 Mar;52(3):228-30.

 

Fish-eye disease is a familial syndrome with corneal opacification, major high density lipoprotein (HDL) deficiency in plasma, significant cholesterol esterification in plasma on non-HDL lipoproteins, generally without premature coronary disease. This first British male case from ...

Last Updated: 31 Dec 1969

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An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).
 

Author(s): J A Kuivenhoven, H Weibusch, P H Pritchard, H Funke, R Benne, G Assmann, J J Kastelein

Journal: J. Clin. Invest.. 1996 Jul;98(2):358-64.

 

The first step in the splicing of an intron from nuclear precursors of mRNA results in the formation of a lariat structure. A distinct intronic nucleotide sequence, known as the branchpoint region, plays a central role in this process. We here describe a point mutation in such a sequence. ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fish-Eye Disease" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.