Results 81 to 90 of about 296 (112)

Neurofibroma of Lip: Report of a Rare Case

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Neurofibroma is a benign tumor of neural tissue origin. It most frequently involves the skin and rarely the oral mucosa. The nature of the disease has been recognized as hereditary with an autosomal dominant trait with variable penetrance.
N Kannan, Rajendra Patil, Sreenivasulu Pattipati   +2 more
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Recent Advancement of Neurofibromatosis Type 1: A Narrative Review

Acta Neurologica Taiwanica
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, Society for Neurological Rare Disorders-Taiwan, Ming-Jen Lee   +2 more
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Diagnostic and therapeutic process of neurofibromatosis type 1 and type 2

Journal of Education, Health and Sport
Neurofibromatosis is one of the most common genetic diseases. It is inherited in an autosomal dominant manner. It is divided into two genetically distinct subtypes, characterised by multiple skin lesions and tumours of the peripheral and central nervous 
Michał Leśniewski, Iwona Welian-Polus, Izabela Oleksak, Karolina Maliszewska   +3 more
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Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies

Scientific Reports
Germline mutations in the NF1 gene disrupt neurofibromin function, leading to autosomal-dominant neurofibromatosis type I (NF1). As a tumor suppressor, neurofibromin negatively regulates the RAS signaling.
Jianmei Huang, Ke Yang, Yaoping Wang, Xinrui Ma, Wenke Yang, Xiaodong Huo, Jie Bai, Hongjie Zhu, Jinming Wang, Yibing Lv, Shixiu Liao   +10 more
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Neurofibromin [PDF]

, 2020
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Neurofibromin

, 2018
Jeremy Jones, Daniel Bell
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Neurofibromin 1 (NF1); MEK [PDF]

Science-Business eXchange, 2013
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The interaction of p21Ras with neurofibromin

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Neurofibromin: a general outlook

Clinical Genetics, 2006
Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1, located on chromosome 17, at q11.2, and has different biochemical functions, including association to microtubules and participation in several signaling pathways.
Trovo-Marqui, A. B., Tajara, E. H.
openaire   +3 more sources

The Mechanism of Ras GTPase Activation by Neurofibromin

Biochemistry, 2003
Individual rate constants have been determined for each step of the Ras.GTP hydrolysis mechanism, activated by neurofibromin. Fluorescence intensity and anisotropy stopped-flow measurements used the fluorescent GTP analogue, mantGTP (2'(3')-O-(N-methylanthraniloyl)GTP), to determine rate constants for binding and release of neurofibromin. Quenched flow
Phillips, Robert A.; id_orcid 0000-0001-6308-5054, Hunter, Jackie L., Eccleston, John F., Webb, Martin R.   +3 more
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