Results 111 to 120 of about 26,229 (202)

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

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Reproducibility of cognitive endpoints in clinical trials: Lessons from neurofibromatosis type 1 [PDF]

, 2019
OBJECTIVE: Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism-based treatments.
et al,, Gutmann, David H, Payne, Jonathan M   +2 more
core   +1 more source

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

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

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

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

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
doaj  

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