Results 91 to 100 of about 25,840 (207)

The Motor Protein Kinesin-1 Links Neurofibromin and Merlin in a Common Cellular Pathway of Neurofibromatosis [PDF]

Journal of Biological Chemistry, 2002
Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous systems.
Mohamed-Ali, Hakimi, David W, Speicher, Ramin, Shiekhattar   +2 more
openaire   +2 more sources

Behavioral and Sleep Disorders in Neurofibromatosis

Pediatric Neurology Briefs, 2005
The behavior and sleep patterns of 64 children (mean age 10 years 7 months) with neurofibromatosis type 1 (NF1) were determined by mail and telephone questionnaire in a study at Park Hospital, University of Oxford, UK.
J Gordon Millichap
doaj   +1 more source

N-type calcium current, Cav2.2, is enhanced in small diameter sensory neurons isolated from Nf1+/− mice [PDF]

, 2014
Major aspects of neuronal function are regulated by Ca2+ including neurotransmitter release, excitability, developmental plasticity, and gene expression. We reported previously that sensory neurons isolated from a mouse model with a heterozygous mutation
Duan, J-H., Hingtgen, C. M., Hodgdon, K. E., Nicol, G. D.   +3 more
core   +1 more source

Pheochromocytoma With Langerhans Cell Histiocytosis: A Rare Tumor‐in‐Tumor Case

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Langerhans cell histiocytosis (LCH) occurring in a Pheochromocytoma in the adrenal gland is exceptionally rare and prone to misdiagnosis. The special coexistent tumors harbor distinct genetic mutations. This uncommon case could introduce novel considerations and a strong teaching message to all the clinicians and pathologists.
Cheng Lei, Yulong Guo, Yixin Luo, Qingchun Liang, Jiadi Luo   +4 more
wiley   +1 more source

Psoriasis vulgaris occurring in a known case of neurofibromatosis type I: A rare association

Journal of Dr. NTR University of Health Sciences, 2016
Neurofibromatosis type 1 (NF-1) is an autosomal dominantly inherited neurocutaneous disorder due to mutations in the neurofibromin (NF) gene that encodes protein NF. NF regulates signal transduction by inactivating RAS proteins.
Konakanchi Venkata Chalam, Gummalla Ajay Kumar, Padmasri S Yandapalli, Anila P Sunandini   +3 more
doaj   +1 more source

A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity [PDF]

, 1993
Sequence analysis has shown significant homology between the catalytic regions of the mammalian ras GTPase-activating protein (GAP), yeast Ira1p and Ira2p (inhibitory regulators of the RAS-cyclic AMP pathway), and neurofibromin, the protein encoded by ...
Andersen, L. B., Ballester, R., Marchuk, D. A., Chang, E., Gutmann, D. H., Saulino, A. M., Camonis, J., Wigler, M. H., Collins, F. S.   +8 more
core   +1 more source

Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Axial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Zachary Pluim, Joseph Do Woong Choi, Benedict Kakala, Jessica Wong, Roderick Clifton‐Bligh, Mark Sywak, Julie Howle   +6 more
wiley   +1 more source

Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1

Gynecologic Oncology Reports, 2018
Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris, Wendell D. Jones, Marius D. Surleac, Andrei J. Petrescu, Darla Destephanis, Qing Zhang, Issam Hamadeh, Jeffrey S. Kneisl, Chad A. Livasy, Ram N. Ganapathi, David L. Tait, Mahrukh K. Ganapathi   +11 more
doaj   +1 more source

The oncogenic role of NF1 in gallbladder cancer through regulation of YAP1 stability by direct interaction with YAP1

Journal of Translational Medicine, 2023
Background Gallbladder cancer (GBC) is the most prevalent and invasive biliary tract malignancy. As a GTPase-activating protein, Neurofibromin 1 (NF1) is a tumor suppressor that negatively regulates the RAS signaling pathway, and its abnormality leads to
Lingxiao Zhang, Lin Jiang, Ling Zeng, Zhaohui Jin, Xuanjia Dong, Yuhan Zhang, Litian Chen, Yijun Shu, Yingbin Liu, Ying Huang   +9 more
doaj   +1 more source

Characterizing the immune microenvironment of malignant peripheral nerve sheath tumor by PD-L1 expression and presence of CD8+ tumor infiltrating lymphocytes. [PDF]

, 2016
BackgroundMalignant peripheral nerve sheath tumor (MPNST) is an aggressive sarcoma with few treatment options. Tumor immune state has not been characterized in MPNST, and is important in determining response to immune checkpoint blockade.
Bernthal, Nicholas, Chmielowski, Bartosz, Crompton, Joseph G, Dry, Sarah, Eilber, Fritz C, Federman, Noah, Jensen, Sarah, Li, Yunfeng, Nelson, Scott, Shurell, Elizabeth, Singh, Arun S, Tumeh, Paul   +11 more
core   +2 more sources