Neurofibromatosis type 1 (NF1) is a condition caused by a change in a specific gene, and therefore can be inherited and passed on. Not all people with NF1 inherit the disease. It can also develop spontaneously. Most people with NF1 have recognizable symptoms often affecting the skin, eyes and nervous system, commonly before age 10.

Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 (NF1). Over the last three decades, studies of neurofibromin structure, interacting partners, and functions have shown that it is involved in several cell signaling ...

Neurofibromatosis (NF) is a neurocutaneous genetic disorder that affects the bone, soft tissue, skin, and nervous system. At least 8 different clinical phenotypes of NF have been identified. It is classified into 2 distinct types: Neurofibromatosis 2 (NF2). NF1 occurs in about 1 in 3000 births. It also known as von Recklinghausen disease.

Heterozygous NF1 defects were identified in 16 of the 17 unrelated subjects included in the study, which provides evidence that mutations in NF1 represent the major molecular event underlying this condition. Lesions included nonsense mutations, out-of-frame deletions, missense changes, small inframe deletions, and one large multiexon deletion.

Glomus tumors of the fingers and toes are associated with the monogenic disorder neurofibromatosis type 1 (NF1) and are recently recognized as part of the NF1 phenotype. We report our multi-institutional experience with 15 individuals …

2022年9月15日 · SPRED1 can allosterically regulate RAS–GAP (NF1) interactions with KRAS and subsequent RAS–GAP aided KRAS inactivation transition. We propose a mechanism for allosteric regulation of KRAS–NF1 activity by SPRED1 over a long distance. We identify a long-range allosteric communication pathway from SPRED1 to KRAS through NF1 scaffold.

2020年7月21日 · The N-terminal residues L1211–E1220 of the NF1-GAPex domain undergo a structural change to form a long, finger-like loop that inserts itself into the pocket present on SPRED1 (Figures 4 A, 4B, 5 A, and 5B).

Glomus tumors are noncancerous tumors that appear on fingers and toes. They are rare compared to PNs, but cause extreme pain when they occur. Gastrointestinal complications in the NF1 population can be caused by neurofibromas in the stomach and are sometimes called abdominal migraines.

2021年6月22日 · Neurofibromas are benign peripheral nerve sheath tumors most commonly associated with neurofibromatosis. The condition usually presents in patients with neurofibromatosis with cutaneous lesions, as well as lesions near the …

2012年11月15日 · The tumor suppressor gene NF1 encodes the giant signal regulator neurofibromin (320 kDa) that is nonfunctional in NF1 patients due to gene alterations. Neurofibromin is a Ras-specific GTPase activating protein (RasGAP) which downregulates the biological activity of activated Ras via a central GAP-related domain (GRD).