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neurofibromin 1
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq]
Normal tissues
|
|
||
|---|---|---|---|
| Preoptic area |
100
|
||
| Substantia nigra |
98
|
||
| Trigeminal ganglion |
91
|
||
| Spinal cord |
89
|
||
| Dorsal striatum |
89
|
||
| Vestibular nuclear c… |
85
|
Compounds
|
|
||
|---|---|---|---|
| Propofol |
100
|
||
| Precef |
95
|
||
| Moroxydine |
95
|
||
| Tropine |
93
|
||
| Terazosine |
91
|
||
| Dexpanthenol |
89
|
Diseases
|
|
||
|---|---|---|---|
| Neurofibroma |
100
|
||
| Pseudarthrosis |
100
|
||
| Neurofibromatosis |
100
|
||
| Glioma of spinal cor… |
99
|
||
| Optic nerve glioma |
99
|
||
| Sturge-Weber syndrom… |
99
|
 Individual Studies |
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|---|---|
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Mus musculus
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Mutations/Phenotypic
Homo sapiens
|
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Neurofibroma development in NF1--insights into tumour initiation.
Authors: Simona Parrinello, Alison C Lloyd
Trends in cell biology 2009 Aug -
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Authors: Jenny Douglas, Deirdre Cilliers, Kim Coleman, Katrina Tatton-Brown, Karen Barker, Brigitte Bernhard, John Burn, Susan Huson, Dragana Josifova, Didier Lacombe,…
Nature genetics 2007 Aug
Thought leaders and organizations working on research involving NF1.
- National Cancer Institute (NCI)
- National Human Genome Research Institute (NHGRI)
- Children's Hospital of Philadelphia
- Shriners Hospitals for Children
- University of Alabama at Birmingham
- University of California
- Catholic University Leuven
- University College London
- Washington University School of Medicine
- Indiana University School of Medicine
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Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I
conditions: Neurofibromatosis Type 1 ; Von Recklinghausen Disease ; NF1
interventions: none
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Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)
conditions: Neurofibromatosis Type I
interventions: none
Community
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National Institutes of Health
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