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Registration enables users to use special features of this website, such as past
order histories, retained contact details for faster checkout, review submissions, and special promotions.
Registration enables users to use special features of this website, such as past
order histories, retained contact details for faster checkout, review submissions, and special promotions.
Registration enables users to use special features of this website, such as past
order histories, retained contact details for faster checkout, review submissions, and special promotions.
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Neurofibromin / NF1
neurofibromin 1
Neurofibromin / NF1 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.
Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia. Hisaoka M, Hashimoto H, Ohguri T, Aoki T, Okamoto S, Tanaka H, Okimoto N, Nakamura T, Ishida T. Skeletal radiology. 2004 33:545-9.
[PubMed:15258702]
2
NF1 gene expression in mouse fracture healing and in experimental rat pseudarthrosis. Kuorilehto T, Ekholm E, Nissinen M, Hietaniemi K, Hiltunen A, Paavolainen P, Penttinen R, Peltonen J. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. 2006 54:363-70.
[PubMed:16314442]
3
S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas. Tucker T, Riccardi VM, Brown C, Fee J, Sutcliffe M, Vielkind J, Wechsler J, Wolkenstein P, Friedman JM. Journal of neuroscience research. 2011 89:1451-60.
[PubMed:21674567]
4
Comparative oncogenomics implicates the neurofibromin 1 gene (NF1) as a breast cancer driver. Wallace MD, Pfefferle AD, Shen L, McNairn AJ, Cerami EG, Fallon BL, Rinaldi VD, Southard TL, Perou CM, Schimenti JC. Genetics. 2012 192:385-96.
[PubMed:22851646]
[PMC:PMC3454871]
5
Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance. Eunyoung Tak, Minhee Kim, Youngra Cho, Sueun Choi, Jihun Kim, Buhm Han, Hyung-Don Kim, Chloe Soo-Hyun Jang, Jeong Eun Kim, Yong Sang Hong, Sun Young Kim, Tae Won Kim. Oncology reports. 2022 Jan;;47:15. [Full Text Article]
[PubMed:34779495]
[PMC:PMC8611403]
Related Antibodies: LS-B14758.
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PLEASE NOTE
For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.
The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).