Results 51 to 60 of about 296 (112)

Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons [PDF]

The Journal of Neuroscience, 1993
NF1 patients display CNS abnormalities including learning disabilities, clumsiness, astrocytomas, and abnormalities on magnetic resonance imaging exams. To determine whether the cellular and neuroanatomical distribution of neurofibromin reveals possible function for neurofibromin in the brain, we stained rat brain tissue sections with anti ...
M, Nordlund, X, Gu, M T, Shipley, N, Ratner   +3 more
openaire   +2 more sources

Clinical and molecular features of primary gliosarcoma with digital spatial whole‐transcriptome analysis of glial and mesenchymal components

Brain Pathology, Volume 36, Issue 5, September 2026.
We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood, Gabriel Zangirolani, Jinho Lee, Melanie H. Hakar, Tanaya Neff, Kevin Y. Zhang, Christopher L. Corless   +6 more
wiley   +1 more source

Multiple roles for neurofibromin in skeletal development and growth [PDF]

Human Molecular Genetics, 2007
Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder primarily characterized by the formation of neurofibromas, café-au-lait spots and freckling. Skeletal abnormalities such as short stature or bowing/pseudarthrosis of the tibia are relatively common.
Kolanczyk, M., Kossler, N., Kühnisch, J., Lavitas, L., Stricker, S., Wilkening, U., Manjubala, I., Fratzl, P., Spörle, R., Herrmann, B., Parada, L., Kornak, U., Mundlos, S.   +12 more
openaire   +5 more sources

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Neurofibromatosis in Children: Actually and Perspectives

Children, 2022
The three types of neurofibromatosis, namely type 1, type 2, and schwannomatosis, are generally associated with various benign tumors affecting the skin and the nervous system. On rare occasions, especially in patients with neurofibromatosis type 1 (NF1),
Maria Lucia Sur, Ionel Armat, Genel Sur, Diana-Cristina Pop, Gabriel Samasca, Iulia Lupan, Teodora-Larisa Timis, Ioan-Alexandru Florian, Daniel Sur   +8 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
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

Neurofibromin (Nf1) is required for skeletal muscle development [PDF]

Human Molecular Genetics, 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. Besides neuroectodermal malformations and tumors, the skeletal system is often affected (e.g.
Kossler, N., Stricker, S., Rodelsperger, C., Robinson, P., Kim, J., Dietrich, C., Osswald, M., Kuhnisch, J., Stevenson, D., Braun, T., Mundlos, S., Kolanczyk, M.   +11 more
openaire   +3 more sources

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

DNA Hypomethylation Is Not Cell Intrinsically Toxic to Polycomb Repressive Complex 2 Deficient Malignant Peripheral Nerve Sheath Tumors

Genes, Chromosomes and Cancer, Volume 65, Issue 8, August 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas and the most common cause of disease‐associated death for neurofibromatosis type 1 (NF1) patients. In the context of NF1, MPNSTs develop from benign premalignant precursors and the transition to malignancy is typically accompanied by loss of the polycomb ...
Madilyn R. Stahl, Christopher M. Stehn, Zachary J. Seeman, Christopher Faulk, David A. Largaespada   +4 more
wiley   +1 more source

NF1 Leucine Rich Domain‐Derived Extracellular Vesicles Remodel the Glioblastoma Immune Microenvironment via an ADAM17‐Associated Inflammatory Program

Journal of Extracellular Vesicles, Volume 15, Issue 8, August 2026.
NF1‐LRD‐derived EVs suppress glioma cells' invasion and reprogram TAMs through the ADAM17‐TNFα‐ICAM‐1 signaling axis. These EVs reduce migration recruitment, enhance pro‐inflammatory polarization, and modulate key pathways, collectively reshaping the GBM TME. (Created with Biorender.com) ABSTRACT Extracellular vesicles (EVs) are increasingly recognized
Yuganthini Vijayanathan, Jacqueline YT Yeo, Janice HY Tan, Fikri Bin Mohamed, Bernett Lee, Tatsuya Kozaki, Nurashikin Abdul Halim, Rachel LY Ho, Hai Tao Tu, Zhi Wei Zhang, Jann N. Sarkaria, Li Zeng, Florent Ginhoux, Ivy AW Ho   +13 more
wiley   +1 more source