Results 81 to 90 of about 25,840 (207)

Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation [PDF]

Journal of Neuroscience Research, 1993
AbstractNeurofibromin, the product of the neurofibromatosis type 1 (NF1) gene, is a ∼250 kDa protein expressed predominantly in cortical neurons and oligodendrocytes in the central nervous system (CNS) and sensory neurons and Schwann cells in the peripheral nervous system (PNS). To gain insight into the biological role of neurofibromin in Schwann cells,
Gutmann, D. H., Tennekoon, Gihan I., Cole, Jeffrey L., Collins, Francis S., Rutkowski, J. Lynn   +4 more
openaire   +3 more sources

Absence of Neurofibromin Induces an Oncogenic Metabolic Switch via Mitochondrial ERK-Mediated Phosphorylation of the Chaperone TRAP1

Cell Reports, 2017
Mutations in neurofibromin, a Ras GTPase-activating protein, lead to the tumor predisposition syndrome neurofibromatosis type 1. Here, we report that cells lacking neurofibromin exhibit enhanced glycolysis and decreased respiration in a Ras/ERK-dependent
Ionica Masgras, Francesco Ciscato, Anna Maria Brunati, Elena Tibaldi, Stefano Indraccolo, Matteo Curtarello, Federica Chiara, Giuseppe Cannino, Elena Papaleo, Matteo Lambrughi, Giulia Guzzo, Alberto Gambalunga, Marco Pizzi, Vincenza Guzzardo, Massimo Rugge, Stefania Edith Vuljan, Fiorella Calabrese, Paolo Bernardi, Andrea Rasola   +18 more
doaj   +1 more source

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma [PDF]

, 2012
Low-grade brain tumors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations ...
Demeter, Ryan, Ding, Li, Fulton, Lucinda L, Fulton, Robert S, Guha, Abhijit, Gutmann, David H, Hussain, Ibrahim, Kandoth, Cyriac, Leonard, Jeffrey R, Magrini, Vincent, Mardis, Elaine R, McLellan, Michael D, Miller, Christopher A, Wallis, John W, Wylie, Todd   +14 more
core   +2 more sources

The Interferon Consensus Sequence-binding Protein Activates Transcription of the Gene Encoding Neurofibromin 1 [PDF]

Journal of Biological Chemistry, 2004
Deficiency of the interferon consensus sequence-binding protein (ICSBP) is associated with increased myeloid cell proliferation in response to hematopoietic cytokines. However, previously identified ICSBP target genes do not indicate a mechanism for this "cytokine hypersensitivity." In these studies, we identify the gene encoding neurofibromin 1 (Nf1 ...
Chunliu, Zhu, Gurveen, Saberwal, Yufeng, Lu, Leonidas C, Platanias, Elizabeth A, Eklund   +4 more
openaire   +2 more sources

Jejunal gastrointestinal stromal tumor that developed in a patient with neurofibromatosis type 1: a case report

Diagnostic Pathology, 2023
Background Neurofibromatosis type 1 (NF1) is known to be associated with the frequent occurrence of unique gastrointestinal stromal tumors (GISTs), preferably occurring in the small intestine, with no mutations in the c-kit proto-oncogene or platelet ...
Hideki Nagano, Shigekazu Ohyama, Atsushi Sato, Jun Igarashi, Tomoko Yamamoto, Masumi Kadoya, Mikiko Kobayashi   +6 more
doaj   +1 more source

Emerging genotype-phenotype relationships in patients with large NF1 deletions. [PDF]

, 2017
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions).
Cooper, David N, Kehrer‑Sawatzki, Hildegard, Mautner, Victor‑Felix   +2 more
core   +2 more sources

MR‐Guided Laser Interstitial Thermal Therapy for Recurrent Glioblastoma: A Case Report With Novel Insights Into Histopathological Changes and Immunological Responses

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
MR‐guided laser interstitial thermal therapy (LITT) offers a minimally invasive option for recurrent glioblastoma, but human post‐treatment tissue data are scarce. In this case report, post‐LITT tissue exhibited distinct zonal changes, including central necrosis within the ablation zone and reduced tumour proliferation with increased CD8+ T‐cell ...
Silas Haahr Nielsen, Sara Blaabjerg Artzi, Jane Skjøth‐Rasmussen, Carl Christian Larsen, Nadine Margaretha Hammouda, Karen Bonde Larsen, Rune Rasmussen, Adam Espe Hansen, Bjarne Winther Kristensen   +8 more
wiley   +1 more source

Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning [PDF]

Human Molecular Genetics, 2015
Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurologic condition characterized by significant clinical heterogeneity, ranging from malignant cancers to cognitive deficits. Recent studies have begun to reveal rare genotype-phenotype correlations, suggesting that the specific germline NF1 gene mutation may be one factor underlying ...
Corina, Anastasaki, Albert S, Woo, Ludwine M, Messiaen, David H, Gutmann   +3 more
openaire   +2 more sources

Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

Balkan Journal of Medical Genetics, 2022
Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de ...
Sayın Kocakap DB, Gündüz Ö, Özer L, Durak M   +3 more
doaj   +1 more source

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Muhammad Hassan Raza, Hamza Asif, Sadia Anjum, Zaira Shahid, Moosa Mubarika, Abdulsattar Anjum, Hassan Abdullah Shakeel, Rejina Chhetri, Muneeb Khawar   +8 more
wiley   +1 more source