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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1999-1-25
|
| pubmed:abstractText |
Myelin protein zero (MPZ, P0) is well known as the adhesion molecule responsible for the compaction of the myelin sheath of peripheral nerves. Mutations are linked to Charcot-Marie-Tooth syndrome type 1B (CMT1B) and the more severe Dejerine-Sottas syndrome (DSS). Three mutations leading to phenotypes of increasing severity (Ser34del/CMT1B, Ser34Cys/DSS, INS663GC/DSS) were expressed in S2 insect cells and resulted in a decreased adhesion capability in correlation with their respective phenotypes.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:author | |
| pubmed:volume |
14
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
117-9
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9834852-Animals,
pubmed-meshheading:9834852-Cell Adhesion,
pubmed-meshheading:9834852-Cell Line,
pubmed-meshheading:9834852-Drosophila,
pubmed-meshheading:9834852-Genotype,
pubmed-meshheading:9834852-Mutation,
pubmed-meshheading:9834852-Myelin P0 Protein,
pubmed-meshheading:9834852-Phenotype,
pubmed-meshheading:9834852-Rats
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins.
|
| pubmed:affiliation |
Institute of Human Genetics, University of Erlangen-Neurnberg, Germany.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|