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Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas

Kallionpää RA; Peltonen J; Peltonen S

dc.contributor.authorKallionpää RA
dc.contributor.authorPeltonen J
dc.contributor.authorPeltonen S
dc.date.accessioned2022-10-28T14:02:22Z
dc.date.available2022-10-28T14:02:22Z
dc.identifier.urihttps://www.utupub.fi/handle/10024/168981
dc.description.abstract<p>Neurofibromatosis 1 (NF1) occurs in 1:2000 births. The main diagnostic signs are visible on the skin, and this opens several interesting aspects for dermatological point of view. The NF1 syndrome is caused by mutations in the NF1 gene which encodes the tumor suppressor protein neurofibromin. Neurofibromin functions as a Ras-GTPase-activating protein (RasGAP), and NF1 mutations lead to overactivation of the Ras signalling pathway. The NF1 gene and neurofibromin have intriguing functions in keratinocytes and melanocytes. Neurofibromin regulates melanin synthesis and keratinocyte differentiation in a currently unknown manner. The NF1 gene has also an important but poorly understood role in tumorigenesis and cancer. Compared to the general population, NF1 patients have a fivefold risk for cancer and a more than 2000-fold risk for neurogenic malignancies. Mutations of the NF1 gene are common in numerous cancer types in patients without NF1, and this suggests a more general role for the NF1 gene in oncogenesis. In melanoma, NF1 mutations seem to drive tumorigenesis and contribute to drug resistance. In this article, we review the literature on neurofibromin with special attention to keratinocytes, melanocytes, NF1-related tumors and melanoma.<br></p>
dc.language.isoen
dc.publisherWILEY
dc.titleNeurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas
dc.identifier.urnURN:NBN:fi-fe2021042716389
dc.relation.volume26
dc.contributor.organizationfi=iho- ja sukupuolitautioppi|en=Dermatology and Venereology|
dc.contributor.organizationfi=biolääketieteen laitos, yhteiset|en=Institute of Biomedicine|
dc.contributor.organizationfi=tyks, vsshp|en=tyks, vsshp|
dc.contributor.organization-code2607305
dc.contributor.organization-code2607100
dc.converis.publication-id18506619
dc.converis.urlhttps://research.utu.fi/converis/portal/Publication/18506619
dc.format.pagerange645
dc.format.pagerange648
dc.identifier.eissn1600-0625
dc.identifier.jour-issn0906-6705
dc.okm.affiliatedauthorKallionpää, Roope
dc.okm.affiliatedauthorDataimport, tyks, vsshp
dc.okm.affiliatedauthorPeltonen, Sirkku
dc.okm.affiliatedauthorPeltonen, Juha
dc.okm.discipline3111 Biomedicineen_GB
dc.okm.discipline3122 Syöpätauditfi_FI
dc.okm.discipline3122 Cancersen_GB
dc.okm.discipline1182 Biochemistry, cell and molecular biologyen_GB
dc.okm.discipline3111 Biolääketieteetfi_FI
dc.okm.discipline1184 Genetics, developmental biology, physiologyen_GB
dc.okm.discipline1182 Biokemia, solu- ja molekyylibiologiafi_FI
dc.okm.discipline1184 Genetiikka, kehitysbiologia, fysiologiafi_FI
dc.okm.internationalcopublicationnot an international co-publication
dc.okm.internationalityInternational publication
dc.okm.typeA2 Review article
dc.publisher.countryYhdysvallat (USA)fi_FI
dc.publisher.countryUnited Statesen_GB
dc.publisher.country-codeUS
dc.relation.doi10.1111/exd.13212
dc.relation.ispartofjournalExperimental Dermatology
dc.relation.issue7
dc.year.issued2017


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