Results 61 to 70 of about 22,402 (163)

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

Localization of Neurofibromin to Keratinocytes and Melanocytes in Developing Rat and Human Skin

, 1994
Pigmentation defects are common in the inherited disease type 1 neurofibromatosis (NF1), predicting a role for the NF1 gene product, neurofibromin, in the skin.
Malhotra, Ritu, Ratner, Nancy
core   +1 more source

Silver Nanoparticles Selectively Treat Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors in a Neurofibromin-Dependent Manner

, 2022
Neurofibromatosis type 1 (NF1) is among the most common neurogenic disorders, characterized by loss of function mutations in the neurofibromin gene (NF1). NF1 patients are extremely susceptible to developing neurofibromas, which can transform into deadly
Cale D. Fahrenholtz, Bashnona Attiah, Attiah, Bashnona, Garrett Alewine, Adithya Ghantae, Ghantae, Adithya, Jerrica Knight, Christina Mamrega, Knight, Jerrica, Mamrega, Christina, Coover, Robert A., Alewine, Garrett, Robert A. Coover, Fahrenholtz, Cale D.   +13 more
core   +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

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

Neurofibromin Deficiency Induces Endothelial Cell Proliferation and Retinal Neovascularization

, 2018
Purpose: Neurofibromatosis type 1 (NF1) is the result of inherited mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin.
Stephen B. Haigh, Brian K. Stansfield, Weintraub, Neal L., Chintan Patel, Hudson, Farlyn Z., David A. Ingram, Ingram, David A., Rojas, Modesto, Fulton, David J., Stansfield, Brian K., Rebekah Tritz, Hanfang Zhang, Xu, Zhimin, Caldwell, Ruth B., Patel, Chintan, Modesto Rojas, Tritz, Rebekah, Neal L. Weintraub, Zhang, Hanfang, Bordán, Zsuzsanna, Zsuzsanna Bordán, Farlyn Z. Hudson, David J. Fulton, Zhimin Xu, Haigh, Stephen B., Ruth B. Caldwell   +25 more
core   +1 more source

A haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/– mice

The Journal of Clinical Investigation
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations of the NF1 tumor suppressor gene resulting in the loss of function of neurofibromin, a GTPase-activating protein (GAP) for Ras.
Su Jung Park, Jodi L. Lukkes, Ka-Kui Chan, Hayley P. Drozd, Callie B. Burgin, Shaomin Qian, Morgan McKenzie Sullivan, Cesar Gabriel Guevara, Nolen Cunningham, Stephanie Arenas, Makenna A. Collins, Jacob Zucker, JinHee Won, Abbi Smith, Li Jiang, Dana K. Mitchell, Steven D. Rhodes, Steven P. Angus, D. Wade Clapp   +18 more
doaj   +1 more source

Unraveling neuronal and metabolic alterations in neurofibromatosis type 1

Journal of Neurodevelopmental Disorders
Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function.
Valentina Botero, Seth M. Tomchik
doaj   +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