Results 101 to 110 of about 25,034,870 (238)

Neurofibromin Deficient Myeloid Cells are Critical Mediators of Aneurysm Formation In Vivo [PDF]

, 2014
Background Neurofibromatosis Type 1 (NF1) is a genetic disorder resulting from mutations in the NF1 tumor suppressor gene. Neurofibromin, the protein product of NF1, functions as a negative regulator of Ras activity in circulating hematopoietic and ...
Bessler, Waylan K., Case, Jamie, Clapp, D. Wade, Conway, Simon J., DiStasi, Matthew R., Downing, Brandon D., Hinds, Daniel M., Hingtgen, Cynthia M., Ingram, David A., Kamendulis, Lisa M., Li, Fang, Mund, Julie A., Sarchet, Kara N., Smiley, Lucy C., Stansfield, Brian K.   +14 more
core   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

De novo pyrimidine synthesis is a collateral metabolic vulnerability in NF2-deficient mesothelioma

EMBO Molecular Medicine
Pleural mesothelioma (PM) is one of the deadliest cancers, with limited therapeutic options due to its therapeutically intractable genome, which is characterized by the functional inactivation of tumor suppressor genes (TSGs) and high tumor heterogeneity,
Duo Xu, Yanyun Gao, Shengchen Liu, Shiyuan Yin, Tong Hu, Haibin Deng, Tuo Zhang, Balazs Hegedüs, Thomas M Marti, Patrick Dorn, Shun-Qing Liang, Ralph A Schmid, Ren-Wang Peng, Yongqian Shu   +13 more
doaj   +1 more source

Deconvoluting mTOR biology [PDF]

, 2012
In metazoans, TOR is an essential protein that functions as a master regulator of cellular growth and proliferation. Over the past decade, there has been an explosion of information about this critical master kinase, ranging from the composition of the ...
Gutmann, David H, Weber, Jason D
core   +2 more sources

Utility of Methylthioadenosine Phosphorylase Compared With BAP1 Immunohistochemistry, and CDKN2A and NF2 Fluorescence In Situ Hybridization in Separating Reactive Mesothelial Proliferations From Epithelioid Malignant Mesotheliomas.

Archives of Pathology & Laboratory Medicine, 2018
CONTEXT.— The separation of reactive from malignant mesothelial proliferations is often a difficult morphologic problem. There is contradictory information in the literature on whether methylthioadenosine phosphorylase (MTAP) immunohistochemistry can be ...
Kyra B. Berg, S. Dacic, Caitlyn A. Miller, Simon Cheung, A. Churg   +4 more
semanticscholar   +1 more source

Liquid–Liquid Phase Separation in Major Hallmarks of Cancer

Cell Proliferation, Volume 59, Issue 2, February 2026.
Aberrant condensates formed through phase separation are involved in the dysregulation of various critical cellular processes, including genome stability, transcriptional regulation and signal transduction, thereby promoting malignant transformation and the acquisition of multiple cancer hallmarks.
Chen‐chen Xie, Ting Wang, Xin‐ran Liu, Yan Wang, Qin Dang, Tian Ding, Jia‐qi Xu, Xian‐jun Yu, Hai Lin, Xiao‐wu Xu, Yi Qin   +10 more
wiley   +1 more source

Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice [PDF]

, 2013
Neurofibromatosis type 1 (NF1) is a common genetic disorder affecting 1 in 3500 individuals. Patients with NF1 are predisposed to debilitating skeletal manifestations, including osteopenia/osteoporosis and long bone pseudarthrosis (nonunion fracture ...
Chen, Shi, He, Yongzheng, Jiang, Li, Kim, Edward T., Li, Jiliang, Li, Xiaohong, Rhodes, Steven D., Sharma, Richa, Stevenson, David A., Viskochil, David, Wu, Xiaohua, Xu, Mingjiang, Yang, Feng-Chun, Yang, Xianlin, Yuan, Jin   +14 more
core   +1 more source

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT‐Like Syndromes: A Comparative Overview

European Journal of Neurology, Volume 33, Issue 2, February 2026.
Hereditary hemorrhagic telangiectasia (HHT) and several HHT‐like syndromes, including Wyburn–Mason, Cobb, Klippel–Trénaunay, Parkes Weber, neurofibromatosis type 1, PHACE(S), capillary malformation–AVM (CM‐AVM), Juvenile polyposis/HHT overlap, HHT type 5, PTEN hamartoma tumor syndrome, and blue rubber bleb nevus syndrome, share overlapping ...
Matteo Palermo, Carmelo Lucio Sturiale
wiley   +1 more source

Defective cAMP generation underlies the sensitivity of CNS neurons to neurofibromatosis-1 heterozygosity [PDF]

, 2010
Individuals with the Neurofibromatosis-1 (NF1) inherited cancer syndrome exhibit neuronal dysfunction that predominantly affects the central nervous system (CNS).
Brown, Jacquelyn A, Gianino, Scott M, Gutmann, David H   +2 more
core   +2 more sources

Advances in Immunotherapy for Malignant Pleural Mesothelioma: From Emerging Strategies to Translational Insights

Open Respiratory Archives
MPM stands as a rare malignancy necessitating improved therapeutic strategies due to its limited treatment choices and unfavorable prognosis. The advent of immune checkpoint inhibitors has heralded a paradigm shift in the therapeutic landscape of MPM ...
R. Castro, Álvaro Fuentes Martín, Andrea Medina del Valle, Tania García Peña, Jose Garcia, L. González, Á. C. Ramos   +6 more
semanticscholar   +1 more source