Results 71 to 80 of about 21,804 (172)
Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma
Axial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Zachary Pluim +6 more
wiley +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
Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris +11 more
doaj +1 more source
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
Mice lacking neurofibromin develop gastric hyperplasia
Gastrointestinal (GI) neoplasms are among many manifestations of the genetic disease neurofibromatosis type 1 (NF1). However, the physiological and pathological functions of the Nf1 gene in the GI system have not been fully studied, possibly because of a lack of mouse models.
Lu, Lin +3 more
openaire +3 more sources
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
Recent advances of epilepsy associated with neurofibromatosis type 1
Background and aimNeurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome caused by pathogenic variants in the NF1 gene. It exhibits highly variable and unpredictable clinical manifestations involving multiple organ systems,
Ying Ren +13 more
doaj +1 more source
Die Boten RNA von Neurofibromin wurde kloniert und untersucht. Es wurde versucht die Biosynthese von Neurofibromin mit Antisenseoligonukleotiden zu unterdrücken. Die Signaltransduktion des kleinen G-Proteins p21 Ras wurde experimentell und theoretisch betrachtet. Die Regulation der Signale durch Neurofibromin wurde modelliert.
openaire +2 more sources
Lipid binding promotes the open conformation and tumor-suppressive activity of neurofibromin 2
Neurofibromin 2 (NF2) is a tumour suppressor that inhibits cell growth. Here the authors combine functional, biochemical, and structural studies and show that lipid-bound NF2 adopts an open conformation and that NF2 lipid binding is required for ...
Krishna Chinthalapudi +7 more
doaj +1 more source

