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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.
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 genetically inherited ...
1 in 5,000–10,000 [4] Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
Neurofibromin (NF-1) is a protein that is encoded in the human by the NF1 gene. [5] NF1 is located on chromosome 17. [6] [7] [8] Neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP.
Blood Type A: Central and Eastern Europe. Type A is common in Central and Eastern Europe. In countries such as Austria, Denmark, Norway, and Switzerland, about 45–50% of the population have this blood type, whereas about 40% of Poles and Ukrainians do so. The highest frequencies are found in small, unrelated populations.
Neural tube defects ( NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube. When the neural tube does not close completely, an ...
Since there is no universal agreement on Europe's regional composition, the placement of individual countries may vary based on criteria being used. For instance, the Balkans is a distinct geographical region within Europe, but individual countries may alternatively be grouped into South-eastern Europe or Southern Europe.