Results 31 to 40 of about 24,084 (164)

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

Molecular Genetics & Genomic Medicine, 2021
Background Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the seven National Institute of Health ...
Nahla N.Abdel‐Aziz, Ghada Y.El‐Kamah, Rabab A.Khairat, Hanan R.Mohamed, Yehia Z.Gad, Akmal M. El‐Ghor, Khalda S. Amr   +6 more
doaj   +1 more source

Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR

, 2020
Sprouty-related, EVH1 domain-containing (SPRED) proteins negatively regulate RAS/mitogen-activated protein kinase (MAPK) signaling following growth factor stimulation.
Markegard, Evan, Scheffzek, Klaus, Urisman, Anatoly, Yan, Wupeng, Nissley, Dwight V, Dharmaiah, Srisathiyanarayanan, McCormick, Frank, Esposito, Dominic, Drew, Matthew, Simanshu, Dhirendra K   +9 more
core   +1 more source

Biochemical and structural analyses reveal that the tumor suppressor neurofibromin (NF1) forms a high-affinity dimer [PDF]

, 2020
Neurofibromin is a tumor suppressor encoded by the NF1 gene, which is mutated in Rasopathy disease neurofibromatosis type I. Defects in NF1 lead to aberrant signaling through the RAS-mitogen-activated protein kinase pathway due to disruption of the ...
Sherekar, Mukul, Stanley, Christopher B, Bhowmik, Debsindhu, Nissley, Dwight V, McCormick, Frank, Ramanathan, Arvind, O'Neill, Hugh, Waybright, Timothy, Han, Sae-Won, Rabara, Dana, Gillette, William, Messing, Simon, Esposito, Dominic, Drew, Matthew, Ghirlando, Rodolfo, Subramaniam, Sriram, Juneja, Puneet   +16 more
core   +1 more source

Mouse Models of Neurofibromatosis 1 and 2

Neoplasia: An International Journal for Oncology Research, 2002
The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
doaj   +1 more source

Nuclear Isoforms of Neurofibromin Are Required for Proper Spindle Organization and Chromosome Segregation

Cells, 2020
Mitotic spindles are highly organized, microtubule (MT)-based, transient structures that serve the fundamental function of unerring chromosome segregation during cell division and thus of genomic stability during tissue morphogenesis and homeostasis ...
Charoula Peta, Emmanouella Tsirimonaki, Dimitris Samouil, Kyriaki Georgiadou, Dimitra Mangoura   +4 more
doaj   +1 more source

Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation

Kidney & Blood Pressure Research, 2023
Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene.
Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan   +7 more
doaj   +1 more source

KRAS G13D sensitivity to neurofibromin-mediated GTP hydrolysis [PDF]

, 2019
KRAS mutations occur in ∼35% of colorectal cancers and promote tumor growth by constitutively activating the mitogen-activated protein kinase (MAPK) pathway.
Rabara, Dana, Dharmaiah, Srisathiyanarayanan, Holderfield, Matthew, McCormick, Frank, Tran, Timothy H, Stephens, Robert M, Simanshu, Dhirendra K   +6 more
core   +1 more source

The kinetic mechanism of the interaction of p21ras with neurofibromin [PDF]

, 1997
This project involved examining the mechanism of interaction of the 21kDa guanine nucleotide binding protein, N-ras, with the catalytic domain of the GTPase-activating protein, neurofibromin.
Jenkins, Tracy
core   +1 more source

Untersuchungen zur posttranslationalen Regulation von Neurofibromin

, 2002
Die Neurofibromatose Typ 1 (NF1) ist eine erbliche Tumorerkrankung mit benignen Tumoren, wie Neurofibromen, und einer erhöhten Inzidenz zu malignen Tumoren.
Müller, Ralf
core   +1 more source

Localization of Neurofibromin to Keratinocytes and Melanocytes in Developing Rat and Human Skin [PDF]

, 1994
Pigmentation defects are common in the inherited disease type 1 neurofibromatosis (NF1), predicting a role for the NF1 gene product, neurofibromin, in the skin.
Malhotra, Ritu, Ratner, Nancy
core   +1 more source