Results 101 to 110 of about 67,096 (237)
Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis
Human Genomics, 2011 Somatic gene mutations constitute key events in the malignant transformation of human cells. Somatic mutation can either actively speed up the growth of tumour cells or relax the growth constraints normally imposed upon them, thereby conferring a ...
Spyk Sebastian +3 more
doaj +1 more source
The Genomic Evolution of Early‐Stage Non‐Small Cell Lung Cancer
Medicine Advances, EarlyView.This study provides a comprehensive overview of the genomic landscape of early‐stage non‐small cell lung cancer, identifying the 4q12 deletion as a potential exclusive biomarker for the “oncogenic switch” from pre‐invasive to invasive lesions. It delineates that while EGFR and TP53 mutations act as early truncal drivers, the progressive increase in ...
Huatao Tang, Yang Zhang, Haiquan Chen
wiley +1 more source
Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1
Gynecologic Oncology Reports, 2018 Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris +11 more
doaj +1 more source
, 2011 We consider a mixture of two-component Fermi and (one-component) dipolar Bose gases in which both dipolar interaction and s-wave scattering between fermions of opposite spins are tunable.
Ben Kain +3 more
core +1 more source
The Journal of Pathology, EarlyView.Abstract Lung cancer is the leading cause of global cancer‐related morbidity and mortality, with tobacco smoking as its strongest risk factor. Nuclear factor erythroid 2‐related factor 2 (NRF2) is a redox‐regulated transcription factor frequently dysregulated in non‐small cell lung cancer (NSCLC), leading to aggressive disease and resistance to therapy.
Jouni Härkönen +14 more
wiley +1 more source
Bone ResearchNeurofibromatosis type 1 (NF1) is a genetic disorder affecting 1 in 3 000 people due to heterozygous mutations in the NF1 gene. Patients with NF1 can develop multiple symptoms, such as neurofibromas, skin hyperpigmentation, and bone abnormalities ...
Franceska Kovaci +7 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes
Acta Neuropathologica CommunicationsBackground NF1 inactivation is associated with sensitivity to MEK inhibitor targeted therapy in low-grade and some high-grade gliomas. NF1 loss may also be a harbinger of exploitable vulnerabilities in IDH-wildtype glioblastoma (GBM).
Michael Chang +17 more
doaj +1 more source
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
Prenatal Diagnosis, EarlyView.ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani +17 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim +5 more
wiley +1 more source