Results 71 to 80 of about 22,402 (163)
Neurofibromatosis type 1 (NF1) is a common autosomal-dominant disorder associated with attention deficits and learning disabilities. The primary known function of neurofibromin, encoded by the NF1 gene, is to downregulate Ras activity.
Marc A. Wolman +5 more
doaj +1 more source
ABSTRACT The APOE gene, which encodes Apolipoprotein E (ApoE), is the strongest genetic risk locus for Alzheimer's disease (AD). A substantial fraction of AD risk genes converges on pathways controlling lipid metabolism and immune regulation, in which microglia serve as a central integrative hub in the brain.
Dayoung Kim +6 more
wiley +1 more source
Polo‐like kinases and UV‐induced skin carcinogenesis: What we know and what's next
The polo‐like kinase (PLK) family plays distinct and critical roles in the regulation of cell cycle progression, and its dysregulation has been implicated in various cancers. Ultraviolet (UV) radiation is a well‐established environmental factor in the development of skin cancer.
Tanya Jaiswal +3 more
wiley +1 more source
Among the symptoms that characterize neurofibromatosis type 1 (NF1) are pigmentation anomalies such as café au lait spots. It has been suggested that the reduction of the neurofibromin level in the epidermis of NF1 patients is responsible for the ...
Mailhammer, Reinhard +5 more
core +1 more source
Enriched expression of NF1 in inhibitory neurons in both mouse and human brain
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by loss-of-function mutations in NF1 gene, which encodes a GTPase activating protein for RAS.
Hyun-Hee Ryu +4 more
doaj +1 more source
IqgC is a RasGAP from Dictyostelium discoideum. IqgC binds RasG via its RasGAP domain and deactivates it on macroendocytic cups, thereby suppressing the uptake of fluid and particles. IqgC has a positive effect on cell‐substratum adhesion, and its RGCt domain is required for recruitment to ventral foci.
Vedrana Filić +3 more
wiley +1 more source
The neurofibromatosis type 1 (NF1) gene encodes a large tumor suppressor protein (neurofibromin). Although it is known to possess Ras GTPase-activating protein (GAP) activity, the cellular role of neurofibromin remains unclear.
Hsueh, Y P +9 more
core +1 more source
Recent Advancement of Neurofibromatosis Type 1: A Narrative Review
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin.
Po-Yuan Huang +2 more
doaj +1 more source
Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas.
Ritsuko Harigai +13 more
doaj +1 more source
Dissecting the role of the CRMP2–neurofibromin complex on pain behaviors
Neurofibromatosis type 1 (NF1), a genetic disorder linked to inactivating mutations or a homozygous deletion of the Nf1 gene, is characterized by tumorigenesis, cognitive dysfunction, seizures, migraine, and pain.
Keener, James E. +27 more
core +1 more source

