Sandbox Reserved 1706: Difference between revisions
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[https://en.wikipedia.org/wiki/Germline_mutation Germline mutations] are common in NF1, often causing genetic tumor syndrome through misregulation of the Ras signaling pathway. [https://en.wikipedia.org/wiki/Somatic_mutation Somatic mutations] among NF1 are also extremely common. In germline mutations and some somatic mutations of NF1, clinical findings show tumors that develop often along the deep epidermis layer of the skin. The most common among NF1 mutations is [https://en.wikipedia.org/wiki/Neurofibroma Neurofibroma]. Physically, soft skin-colored pink papules develop on the extremities or on the neck. Also in patients they become prevalent during puberty. Among germline mutations Neurofibroma seems to be the most well known, other tumors may also be common. [https://en.wikipedia.org/wiki/Lisch_nodule Lisch Nodules] are also common in the development of [https://en.wikipedia.org/wiki/Melanoma melanoma] within melanocytes as a result of NF1 mutations. Plexiform Neurofibroma and [https://en.wikipedia.org/wiki/Glaucoma Optic Glioma] also are tumor based syndromes resulting from these germline mutations. Increased risk in cancer for patients with mutations to NF1 is about 4 fold greater. Treatment options do exist for patients involving a multitude of drug based treatments coupled with chemotherapy. Surgery and laser treatments are also common. | [https://en.wikipedia.org/wiki/Germline_mutation Germline mutations] are common in NF1, often causing genetic tumor syndrome through misregulation of the Ras signaling pathway. [https://en.wikipedia.org/wiki/Somatic_mutation Somatic mutations] among NF1 are also extremely common. In germline mutations and some somatic mutations of NF1, clinical findings show tumors that develop often along the deep epidermis layer of the skin. The most common among NF1 mutations is [https://en.wikipedia.org/wiki/Neurofibroma Neurofibroma]. Physically, soft skin-colored pink papules develop on the extremities or on the neck. Also in patients they become prevalent during puberty. Among germline mutations Neurofibroma seems to be the most well known, other tumors may also be common. [https://en.wikipedia.org/wiki/Lisch_nodule Lisch Nodules] are also common in the development of [https://en.wikipedia.org/wiki/Melanoma melanoma] within melanocytes as a result of NF1 mutations. Plexiform Neurofibroma and [https://en.wikipedia.org/wiki/Glaucoma Optic Glioma] also are tumor based syndromes resulting from these germline mutations. Increased risk in cancer for patients with mutations to NF1 is about 4 fold greater. Treatment options do exist for patients involving a multitude of drug based treatments coupled with chemotherapy. Surgery and laser treatments are also common. | ||
Mutations to NF1 in the critical interaction involved in the GRD active site with R1276, structurally and functionally prove why they can cause cancer, as Ras is no longer mediated. The importance of this residue when binding to Ras may be able to contribute to future studies in potentially mimicking this arginine finger when bound to Ras, in cases where mutations would impact R1276 in its normal function. Observing the nature of NF1 can further drug development and further improve what is already known about NF1.<ref name="Bergoug"> DOI:10.3390/cells9112365</ref><ref name="Kioro"> DOI:10.1038/labinvest.2016.142</ref><ref name="Sabatini"> DOI:10.1007/s11940-015-0355-4</ref> | Mutations to NF1 in the critical interaction involved in the GRD active site with R1276, structurally and functionally prove why they can cause cancer, as Ras is no longer mediated. The importance of this residue when binding to Ras may be able to contribute to future studies in potentially mimicking this arginine finger when bound to Ras, in cases where mutations would impact R1276 in its normal function. Observing the nature of NF1 can further drug development and further improve what is already known about NF1.<ref name="Bergoug"> DOI:10.3390/cells9112365</ref><ref name="Kioro"> DOI:10.1038/labinvest.2016.142</ref><ref name="Sabatini"> DOI:10.1007/s11940-015-0355-4</ref> | ||
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This section will be removed it is just for copy and paste purposes. We will add the PDB code names as references in the captions of each scene. | This section will be removed it is just for copy and paste purposes. We will add the PDB code names as references in the captions of each scene. | ||
