Results 61 to 70 of about 67,096 (237)
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Attention Deficit Predicts Intellectual Functioning in Children with Neurofibromatosis Type 1
International Journal of Pediatrics, 2019 Aims. Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurocognitive impairments in neurofibromatosis type 1 (NF1) and a well-known risk factor for intellectual dysfunction in general.
Magdalena Heimgärtner +5 more
doaj +1 more source
Advanced Science, EarlyView.Tumor evolution in lung adenocarcinoma is shaped by genetic alterations and spatial immune dynamics. By integrating whole‐exome sequencing, imaging mass cytometry, and spatial transcriptomics across two mouse models, this study reveals how mutational burden, immune infiltration, and cell–state interactions evolve during early and late carcinogenesis ...
Bo Zhu +34 more
wiley +1 more source
Outlook for Neurofi bromatosis Type I Research in the Republic of Bashkortostan
Креативная хирургия и онкология, 2020 Neurofi bromatosis type I (NF1) is a common hereditary tumour syndrome with autosomal dominant type of inheritance. Average worldwide incidence rate of NF1 is 1:3000, equal in men and women.
R. N. Mustafin, E. K. Khusnutdinova
doaj +1 more source
Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation [PDF]
, 2007 Neurofibromatosis type 1 (NF1) is a dominant genetic disorder that causes tumors of the peripheral nervous system. In addition, >40% of afflicted children have learning difficulties.
Guo, H.-F. +4 more
core +1 more source
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
Journal of Neurodevelopmental Disorders, 2020 Background Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a mutation in one copy of the neurofibromin gene (NF1 +/− ). Even though approximately 40–60% of children with NF1 meet the criteria for attention deficit hyperactivity ...
J. L. Lukkes +5 more
doaj +1 more source
Scientific Reports, 2021 Mutations in the NF1 tumor suppressor gene are linked to arteriopathy. Nf1 heterozygosity (Nf1+/–) results in robust neointima formation, similar to humans, and myeloid-restricted Nf1+/– recapitulates this phenotype via MEK-ERK activation. Here we define
Rebekah Tritz +7 more
doaj +1 more source
Binimetinib inhibits MEK and is effective against neuroblastoma tumor cells with low NF1 expression. [PDF]
, 2016 BackgroundNovel therapies are needed for children with high-risk and relapsed neuroblastoma. We hypothesized that MAPK/ERK kinase (MEK) inhibition with the novel MEK1/2 inhibitor binimetinib would be effective in neuroblastoma preclinical models ...
Liu, Yin +4 more
core +2 more sources
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source