Results 91 to 100 of about 22,402 (163)

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
doaj   +1 more source

Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene

Case Reports in Oncological Medicine, 2014
Background. Neurofibromatosis type 1 is a genetic disorder caused by loss-of-function mutations in a tumor suppressor gene (NF1) which codifies the protein neurofibromin.
Gustavo Fernandes, Mirela Souto, Frederico Costa, Edite Oliveira, Bernardo Garicochea   +4 more
doaj   +1 more source

Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1. [PDF]

J Pediatr Genet, 2023
Lin G, Wei H, Lai AHM, Tan ES, Lim JY, Cham B, Ling S, Jamuar SS, Tan EC.   +8 more
europepmc   +1 more source

Differential Effects of Neurofibromin Gene Dosage on Melanocyte Development

, 2013
Mutations in neurofibromin (NF1) cause the dominant genetic disorder neurofibromatosis type 1. Neurofibromatosis is characterized by Schwann cell–based tumors and skin hyperpigmentation, resulting from both haploinsufficiency and loss of heterozygosity ...
Fuchs, H., Huang, J. L.-Y., Deo, M., Fuchs, Helmut, Van Raamsdonk, Catherine D., Deo, Mugdha, van Raamsdonk, C. D., de Angelis, Martin Hrabe, Huang, Jenny Li-Ying, Hrabě de Angelis, M.   +9 more
core   +1 more source

Neurofibromin 1 in mushroom body neurons mediates circadian wake drive through activating cAMP-PKA signaling. [PDF]

Nat Commun, 2021
Machado Almeida P, Lago Solis B, Stickley L, Feidler A, Nagoshi E.   +4 more
europepmc   +1 more source

Neurofibromin is actively transported to the nucleus

, 2004
Mutations in the neurofibromatosis type 1 (NF1) tumor suppressor gene predispose individuals to a variety of benign and malignant tumors. Many tumor suppressors ‘shuttle’ between the nucleus and the cytoplasm, thus regulating their function.
Vandenbroucke, Ina, Coene, Elisabeth, Patrick Van Oostveldt, Elisabeth Coene, Van Oostveldt, Patrick, Messiaen, Ludwine, De Paepe, Anne, Ludwine Messiaen, Van Oostveldt, Patric, Ina Vandenbroucke, Anne De Paepe   +10 more
core   +1 more source

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.

PLoS ONE, 2018
The fertility of men with neurofibromatosis 1 (NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to assess the role of reduced neurofibromin in the testes, we examined testicular morphology ...
Harleen Chohan, Mitra Esfandiarei, Darian Arman, Catherine D Van Raamsdonk, Cornelis van Breemen, Jan M Friedman, Kimberly A Jett   +6 more
doaj   +1 more source

Neurofibromin (Nf1) is required for skeletal muscle development

, 2011
Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signaling.
Robinson, P., Kim, J., Kuhnisch, J., Dietrich, C., Rodelsperger, C., Braun, T., Mundlos, S., Kossler, N., Kolanczyk, M., Stevenson, D., Osswald, M., Stricker, S.   +11 more
core  

Neurofibromin is the major ras inactivator in dendritic spines

, 2014
In dendritic spines, Ras plays a critical role in synaptic plasticity but its regulation mechanism is not fully understood. Here, using a fluorescence resonance energy transfer/fluorescence lifetime imaging microscopy-based Ras imaging technique in ...
Yasuda, R., Oliveira, A.
core   +1 more source

Molecular Dynamics Simulations of the SPRED2Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin [PDF]

The homozygous Leu100Pro amino acid substitution in SPRED2, a protein negatively controlling RAS function, has recently been identified to be causally linked to a recessive form of Noonan syndrome.
Marialetizia Motta, Ingrid Guarnetti Prandi, Martina Terrusa, Marco Tartaglia, Elisa Sangiovanni, Giovanni Chillemi   +5 more
core   +1 more source