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rdf:type |
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lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0017337,
umls-concept:C0017398,
umls-concept:C0026882,
umls-concept:C0205314,
umls-concept:C0231221,
umls-concept:C0339277,
umls-concept:C0679622,
umls-concept:C1313613,
umls-concept:C1705535,
umls-concept:C2717879
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pubmed:dateCreated |
2008-9-22
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pubmed:databankReference |
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pubmed:abstractText |
Juvenile epithelial corneal dystrophy of Meesmann (MCD, OMIM 122100) is a dominantly inherited disorder characterized by fragility of the anterior corneal epithelium and intraepithelial microcyst formation. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity. MCD is caused by mutations in keratin 3 (KRT3) or keratin 12 (KRT12) genes, which encode cornea-specific cytoskeletal proteins. Seventeen mutations in KRT12 and two in KRT3 have been described so far. The purpose of this study was to investigate the genetic background of MCD in a Polish family.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-10354017,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-10612503,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-10644419,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-10781519,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-12064940,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-12084738,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-12543196,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-12688839,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-15148206,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-16227835,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-16352477,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-17434482,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-17457193,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-17476820,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-17653038,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-17986293,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-18245975,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-9171831,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18806880-9399908
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1090-0535
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
14
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1713-8
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:18806880-Adult,
pubmed-meshheading:18806880-Aged,
pubmed-meshheading:18806880-Base Sequence,
pubmed-meshheading:18806880-Corneal Dystrophy, Juvenile Epithelial of Meesmann,
pubmed-meshheading:18806880-DNA Mutational Analysis,
pubmed-meshheading:18806880-Epithelium, Corneal,
pubmed-meshheading:18806880-European Continental Ancestry Group,
pubmed-meshheading:18806880-Exons,
pubmed-meshheading:18806880-Family,
pubmed-meshheading:18806880-Female,
pubmed-meshheading:18806880-Heterozygote,
pubmed-meshheading:18806880-Humans,
pubmed-meshheading:18806880-Keratin-12,
pubmed-meshheading:18806880-Keratin-3,
pubmed-meshheading:18806880-Male,
pubmed-meshheading:18806880-Microscopy, Confocal,
pubmed-meshheading:18806880-Middle Aged,
pubmed-meshheading:18806880-Molecular Sequence Data,
pubmed-meshheading:18806880-Mutation,
pubmed-meshheading:18806880-Pedigree,
pubmed-meshheading:18806880-Phenotype,
pubmed-meshheading:18806880-Poland
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pubmed:year |
2008
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pubmed:articleTitle |
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
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pubmed:affiliation |
Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland. jacek@amwaw.edu.pl
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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