Results 111 to 120 of about 26,437 (217)

Mice lacking neurofibromin develop gastric hyperplasia

American Journal of Physiology-Gastrointestinal and Liver Physiology, 2009
Gastrointestinal (GI) neoplasms are among many manifestations of the genetic disease neurofibromatosis type 1 (NF1). However, the physiological and pathological functions of the Nf1 gene in the GI system have not been fully studied, possibly because of a lack of mouse models.
Lu, Lin, Jian, Chen, James A, Richardson, Luis F, Parada   +3 more
openaire   +3 more sources

Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells

Scientific Reports, 2018
Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas.
Ritsuko Harigai, Shigeki Sakai, Hiroyuki Nobusue, Chikako Hirose, Oltea Sampetrean, Noriaki Minami, Yukie Hata, Takashi Kasama, Takanori Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Kazuo Kishi, Hideyuki Saya, Yoshimi Arima   +13 more
doaj   +1 more source

Metabolic scavenging by cancer cells: when the going gets tough, the tough keep eating [PDF]

, 2016
Cancer is fundamentally a disease of uncontrolled cell proliferation. Tumour metabolism has emerged as an exciting new discipline studying how cancer cells obtain the necessary energy and cellular ‘building blocks’ to sustain growth.
Bulusu, Vinay, Kamphorst, Jurre J., Michalopoulou, Evdokia   +2 more
core   +2 more sources

Nf1 haploinsufficiency alters myeloid lineage commitment and function, leading to deranged skeletal homeostasis [PDF]

, 2015
Although nullizygous loss of NF1 leads to myeloid malignancies, haploinsufficient loss of NF1 (Nf1) has been shown to contribute to osteopenia and osteoporosis which occurs in approximately 50% of neurofibromatosis type 1 (NF1) patients.
Chen, Shi, Dong, Ruizhi, He, Yongzheng, Jiang, Li, Li, Zhaomin, Menon, Keshav, Rhodes, Steven D., Staser, Karl W., Yang, Hao   +8 more
core   +1 more source

Recent advances of epilepsy associated with neurofibromatosis type 1

Frontiers in Neurology
Background and aimNeurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome caused by pathogenic variants in the NF1 gene. It exhibits highly variable and unpredictable clinical manifestations involving multiple organ systems,
Ying Ren, Ying Ren, Wandong Hu, Wandong Hu, Song Su, Song Su, Qi Zhang, Qi Zhang, Wenchao Zhang, Wenchao Zhang, Hongwei Zhang, Hongwei Zhang, Guangyu Wang, Guangyu Wang   +13 more
doaj   +1 more source

The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes [PDF]

, 2017
In contrast to trials of training without intervals (massed training), training trials spaced over time (spaced training) induce a more persistent memory identified as long-term memory (LTM).
Gelb, Bruce, Pagani, Mario Rafael, Rela, Lorena, San Martín, Alvaro   +3 more
core   +1 more source

Neurofibromin

, 2000
Die Boten RNA von Neurofibromin wurde kloniert und untersucht. Es wurde versucht die Biosynthese von Neurofibromin mit Antisenseoligonukleotiden zu unterdrücken. Die Signaltransduktion des kleinen G-Proteins p21 Ras wurde experimentell und theoretisch betrachtet. Die Regulation der Signale durch Neurofibromin wurde modelliert.
openaire   +2 more sources

Lipid binding promotes the open conformation and tumor-suppressive activity of neurofibromin 2

Nature Communications, 2018
Neurofibromin 2 (NF2) is a tumour suppressor that inhibits cell growth. Here the authors combine functional, biochemical, and structural studies and show that lipid-bound NF2 adopts an open conformation and that NF2 lipid binding is required for ...
Krishna Chinthalapudi, Vinay Mandati, Jie Zheng, Andrew J. Sharff, Gerard Bricogne, Patrick R. Griffin, Joseph Kissil, Tina Izard   +7 more
doaj   +1 more source

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
doaj   +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