Results 61 to 70 of about 25,840 (207)

Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]

, 2017
Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina, Gao, Feng, Gutmann, David H, Morris, Stephanie M   +3 more
core   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Loss of neurofibromin induces inflammatory macrophage phenotypic switch and retinal neovascularization via GLUT1 activation

Cell Reports
Summary: Persons with neurofibromatosis type 1 (NF1) exhibit enhanced glucose metabolism, which is replicated in Nf1-mutant mice. Inflammatory macrophages invest NF1-associated tumors, and targeting macrophages appears efficacious in NF1 models ...
Yusra Zaidi, Rebekah Tritz, Nida Zaidi, Faisal Nabi, Syed Adeel H. Zaidi, Abdelhakim Morsy, Valerie Harris, Rilee Racine, Farlyn Z. Hudson, Zsuzsanna Bordan, Simone Kennard, Robert Batori, Yuqing Huo, Gabor Csanyi, Eric J. Belin de Chantemèle, Kecheng Lei, Nicholas M. Boulis, David J. Fulton, Rizwan Hasan Khan, Ruth B. Caldwell, Brian K. Stansfield   +20 more
doaj   +1 more source

R-Ras subfamily proteins elicit distinct physiologic effects and phosphoproteome alterations in neurofibromin-null MPNST cells

Cell Communication and Signaling, 2021
Background Loss of the Ras GTPase-activating protein neurofibromin promotes nervous system tumor pathogenesis in patients with neurofibromatosis type 1 (NF1).
Shannon M. Weber, Nicole M. Brossier, Amanda Prechtl, Stephen Barnes, Landon S. Wilson, Stephanie N. Brosius, Jody Fromm Longo, Steven L. Carroll   +7 more
doaj   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

A COMPREHENSIVE APPROACH TO THE STUDY OF PECULIAR PROPERTIES OF NEUROFIBROMATOSIS TYPE 1

Креативная хирургия и онкология, 2017
Having made a literature review, the writers of the article analyze the data of native and foreign researchers on the study of neurofibromatosis type 1.
R. N. Mustafin, M. A. Bermisheva, E. K. Khusnutdinova   +2 more
doaj   +1 more source

Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation [PDF]

, 2007
Neurofibromatosis type 1 (NF1) is a dominant genetic disorder that causes tumors of the peripheral nervous system. In addition, >40% of afflicted children have learning difficulties.
Guo, H.-F., Hakker, I., Hannan, F., Ho, I. S., Zhong, Y.   +4 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1 [PDF]

European Journal of Human Genetics, 2015
Arg 1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type ...
Santoro, Claudia, Maietta, Anna, Giugliano, Teresa, Melis, Daniela, Perrotta, Silverio, Nigro, Vincenzo, Piluso, Giulio   +6 more
openaire   +2 more sources

Pediatric glioma-associated KIAA1549:BRAF expression regulates neuroglial cell growth in a cell type-specific and mTOR-dependent manner [PDF]

, 2012
Tandem duplications involving the BRAF kinase gene have recently been identified as the most frequent genetic alteration in sporadic pediatric glioma, creating a novel fusion protein (f-BRAF) with increased BRAF activity.
Chen, Yi-Hsien, Dahiya, Sonika, Emnett, Ryan J, Gutmann, David H, Kaul, Aparna   +4 more
core   +2 more sources