Results 61 to 70 of about 21,804 (172)

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Tumor mutational burden as a determinant of metastatic dissemination patterns

Molecular Oncology, Volume 20, Issue 5, Page 1364-1378, May 2026.
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal, Andrea Moreno‐Manuel, Miguel Salvadó‐Pertierra, Cristina Santos‐Vivas, Rebeca Sanz‐Pamplona   +4 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

Delivery of Pleckstrin‐Homology Domains Suppresses PI3K/Akt Signaling and Breast Cancer Metastasis

Advanced Science, Volume 13, Issue 30, 28 May 2026.
Current therapies curb tumor growth but not metastasis. Obscurin, a giant metastasis suppressor lost in breast cancer, restrains PI3K/Akt signaling but is impractical to restore. We deploy a mini‐obscurin, comprising the obscurin‐PH‐domain, which sequesters PI3K‐p85, potently suppressing invasion and metastasis.
Matthew Eason, Anindya Sen, Suhan Cho, Se Jong Lee, Keyata Thompson, Md Musavvir Mahmud, Poornima Dubey, Talia Guardia, Anthony Kim, Stuart Martin, Nathan Wright, Konstantinos Konstantopoulos, Aikaterini Kontrogianni‐Konstantopoulos   +12 more
wiley   +1 more source

Co‐Occurrence of Agminated Lentigines, Café‐Au‐Lait Macules, and Vitiligo: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Xinxin Lei, Bo Xie
wiley   +1 more source

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

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

Loss of neurofibromin Ras-GAP activity enhances the formation of cardiac blood islands in murine embryos

eLife, 2015
Type I neurofibromatosis (NF1) is caused by mutations in the NF1 gene encoding neurofibromin. Neurofibromin exhibits Ras GTPase activating protein (Ras-GAP) activity that is thought to mediate cellular functions relevant to disease phenotypes.
Amanda D Yzaguirre, Arun Padmanabhan, Eric D de Groh, Kurt A Engleka, Jun Li, Nancy A Speck, Jonathan A Epstein   +6 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

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