Search results
Results from the WOW.Com Content Network
Neurofibromatosis type I ( NF-1 ), or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of neurofibromin 1 (NF-1), a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous ...
Neurofibromatosis type I is the most common of the three types and is caused by genetic changes in the NF1 gene located on chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation.
Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves. The types of tumors frequently associated with NF2 include vestibular ...
Neurofibroma. A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors ( solitary neurofibroma, solitary nerve sheath tumor[ 1] or sporadic neurofibroma[ 1] ), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant ...
Brighton University. Occupation (s) Actor, television presenter, advocate. Adam Pearson (born 6 January 1985) is a British actor, presenter and campaigner. He appeared in the 2013 film Under the Skin. [ 1] He has neurofibromatosis and has been involved in outreach programmes to prevent bullying associated with deformities. [ 2][ 3]
Schwannomatosis. Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder neurofibromatosis (NF). Originally described in Japanese patients, [ 1] it consists of multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF.
Gilbert was born to a Jewish [3] [4] family in Detroit, Michigan. [5] He grew up in Southfield, Michigan, where he attended Southfield-Lathrup High School. [6] He earned his bachelor's degree from Michigan State University and a Juris Doctor from Wayne State University Law School, and he is a member of the State Bar of Michigan. [7]
Genetic disorder. A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single ...