Source:http://linkedlifedata.com/resource/pubmed/id/10659684
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
12
|
| pubmed:dateCreated |
2000-2-18
|
| pubmed:abstractText |
Mutations of the NF1 tumor suppressor gene cause type 1 neurofibromatosis, characterized by multiple tumors of the peripheral nerves, as well as other tumor types. The NF1 protein, neurofibromin, is intricately linked to the cell growth regulatory signalling pathways, e.g. by possessing RAS-GTPase activity. The regulation and role of neurofibromin are not known in normal human development. We addressed this issue by studying the regulation of neurofibromin in normal human peripheral nerves, from early fetal development to adulthood. The barely detectable neurofibromin immunosignal in peripheral nerves during the first trimester of gestation contrasted dramatically to its increase in Schwann cells, perineurial cells, and axons during the second and third trimesters. Interestingly, the type I and II isoforms of neurofibromin, differing in their RAS oncoprotein inactivation capacity, displayed clearly different expression profiles throughout these periods. This suggests distinct cellular functions for these neurofibromin isoforms. The results also revealed distinct species-specific differences in neurofibromin expression, potentially bearing relevance to the lack of human neurofibromatosis-like disorders in other species.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0300-4864
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
27
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
939-52
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:10659684-Adult,
pubmed-meshheading:10659684-Cells, Cultured,
pubmed-meshheading:10659684-Embryonic and Fetal Development,
pubmed-meshheading:10659684-Fluorescent Antibody Technique, Indirect,
pubmed-meshheading:10659684-Gene Expression Regulation, Developmental,
pubmed-meshheading:10659684-Genes, Neurofibromatosis 1,
pubmed-meshheading:10659684-Humans,
pubmed-meshheading:10659684-Nerve Tissue Proteins,
pubmed-meshheading:10659684-Neurofibromin 1,
pubmed-meshheading:10659684-Neurons,
pubmed-meshheading:10659684-Proteins,
pubmed-meshheading:10659684-RNA, Messenger,
pubmed-meshheading:10659684-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:10659684-Schwann Cells,
pubmed-meshheading:10659684-Sciatic Nerve,
pubmed-meshheading:10659684-Transcription, Genetic
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Developmental regulation of NF1 tumor suppressor gene in human peripheral nerve.
|
| pubmed:affiliation |
Department of Medical Biochemistry, University of Turku, Finland.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|