Results 101 to 110 of about 26,229 (202)
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 +14 more
core +1 more source
Human Brain Mapping, Volume 47, Issue 2, February 1, 2026.Dynamic causal modelling of working memory fMRI in individuals with Neurofibromatosis Type 1 (NF1) revealed altered frontoparietal connectivity. NF1 participants showed increased endogenous self‐connectivity in left dlPFC and IPG. During working memory, NF1 participants showed increased self‐connectivity in left vlPFC but decreased self‐connectivity in
Marta C. Litwińczuk +3 more
wiley +1 more source
K-Ras protein as a drug target [PDF]
, 2016 K-Ras proteins are major drivers of human cancers, playing a direct causal role in about one million cancer cases/year. In cancers driven by mutant K-Ras, the protein is locked in the active, GTP-bound state constitutively, through a defect in the off ...
Frank McCormick
core +2 more sources
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
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 +2 more
core +2 more sources
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 +11 more
core +2 more sources
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 +5 more
doaj +1 more source
Scientific Reports, 2018 Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas.
Ritsuko Harigai +13 more
doaj +1 more source
Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma [PDF]
, 2018 Conventional differential expression analyses have been successfully employed to identify genes whose levels change across experimental conditions.
Bush, Erin C +7 more
core +5 more sources
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. [PDF]
, 2014 In Noonan syndrome (NS) 30-50% of subjects show cognitive deficits of unknown etiology and with no known treatment. Here, we report that knock-in mice expressing either of two NS-associated mutations in Ptpn11, which encodes the nonreceptor protein ...
Araki, Toshiyuki +17 more
core +2 more sources