Results 91 to 100 of about 22,652 (194)

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

Metastatic Testicular Germ Cell Tumor in a Patient With Neurofibromatosis Type 1: Treatment With Trametinib Based on NF1 Gene Mutation

IJU Case Reports, Volume 9, Issue 4, July 2026.
ABSTRACT Introduction Neurofibromatosis type 1 (NF1) is a genetic disorder that increases the risk of various tumors. However, its association with testicular germ cell tumors (GCTs) is rare. We report a case of metastatic GCT in an NF1 patient treated with precision medicine.
Keita Goto, Toshiki Kijima, Yusuke Sato, Kousuke Watanabe, Hidenori Kage, Katsutoshi Oda, Tatsunori Shimoi, Kazuyuki Ishida, Haruki Kume, Takao Kamai   +9 more
wiley   +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

From Synapses to Circuits, the Role of KIBRA and the WWC Family in Adaptive Brain Function

Journal of Neurochemistry, Volume 170, Issue 7, July 2026.
KIBRA (WWC1) has been the subject of scientific interest since its initial association with nonpathological variation in human memory performance. This review discusses subsequent work in animal models demonstrating that KIBRA supports memory function.
Lenora J. Volk
wiley   +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

A Diagnostic Challenge: Unilateral Gingival Enlargement With Altered Tooth Eruption in a Paediatric Patient

Oral Diseases, EarlyView.
Luca Cricenti, Rossella Ninivaggi, Federico Liguori, Nicola Scotti, Allegra Comba, Patrizia Defabianis, Federica Romano   +6 more
wiley   +1 more source

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

Modulation of cAMP and Ras Signaling Pathways Improves Distinct Behavioral Deficits in a Zebrafish Model of Neurofibromatosis Type 1

Cell Reports, 2014
Neurofibromatosis type 1 (NF1) is a common autosomal-dominant disorder associated with attention deficits and learning disabilities. The primary known function of neurofibromin, encoded by the NF1 gene, is to downregulate Ras activity.
Marc A. Wolman, Eric D. de Groh, Sean M. McBride, Thomas A. Jongens, Michael Granato, Jonathan A. Epstein   +5 more
doaj   +1 more source

Metal‐dependent regulated cell death: Molecular architecture and translational frontiers

iMeta, Volume 5, Issue 3, June 2026.
Intracellular metal dyshomeostasis orchestrates distinct regulated cell death programs, including iron‐driven ferroptosis, copper‐mediated cuproptosis, calcicoptosis, newly designated zincoptosis, mnoptosis, and coptosis. This review systematically delineates their molecular architectures—spanning from Sorafenib‐induced lipid peroxidation and ...
Haoliang Hu, Zhe Chen, Yaqi Li, Jiayi Peng, Jiangang Cao, Hong Zhou, Mengqi Wang, Yuejia Du, Hailin Wu, Huiqin Zhao, Shifang Huang, Dianmei Yu, Meiqing Liu, Olga V. Shevchenko, Natalia Yu. Matveeva, Yiyuan Yang, Kerui Huang, Deguan Lv, Junxia Min, Linxi Chen, Fudi Wang   +20 more
wiley   +1 more source

Enriched expression of NF1 in inhibitory neurons in both mouse and human brain

Molecular Brain, 2019
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by loss-of-function mutations in NF1 gene, which encodes a GTPase activating protein for RAS.
Hyun-Hee Ryu, Minkyung Kang, Jinsil Park, Sung-Hye Park, Yong-Seok Lee   +4 more
doaj   +1 more source