Results 61 to 70 of about 2,913,254 (384)
Modern Pathology, 2015 Germline PDGFRA mutations cause multiple heterogeneous gastrointestinal mesenchymal tumors. In its familial form this disease, which was formerly termed intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b), has been included among familial gastrointestinal stromal tumors (GISTs) because of its genotype, described when GIST was the only known ...
Ricci, Riccardo +10 more
openaire +3 more sources
Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma
Nature, 2010 B-RAF is the most frequently mutated protein kinase in human cancers. The finding that oncogenic mutations in BRAF are common in melanoma, followed by the demonstration that these tumours are dependent on the RAF/MEK/ERK pathway, offered hope that ...
G. Bollag +39 more
semanticscholar +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Although most malignant germ cell tumors (GCTs) are highly curable with cisplatin‐based therapy, options for patients with multiply relapsed/refractory disease remain limited. For this population, we report the first pediatric use of gemcitabine, docetaxel, melphalan, and carboplatin (GemDMC) as part of sequential cycles of high‐dose ...
Maria Frost +10 more
wiley +1 more source
Characterization of the extracellular lipase of Bacillus subtilis and its relationship to a membrane-bound lipase found in a mutant strain [PDF]
, 1979 Bacillus subtilis CMK33 is a mutant that is more osmotically fragile than the wild type when it is converted to the protoplast form. The protoplasts of this mutant contain a membrane-bound lipase, which is not found in protoplasts of the wild type ...
Kennedy, Mary B., Lennarz, W. J.
core
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background/Objectives Outcomes for pediatric relapsed/refractory (R/R) acute myeloid leukemia (AML) remain dismal. CPX‐351, a liposomal formulation of cytarabine and daunorubicin, may have less off‐target toxicities than traditional chemotherapies and has shown improved outcomes for adults with newly diagnosed therapy‐related AML.
Jonathan D. Bender +17 more
wiley +1 more source
Journal of Enzyme Inhibition and Medicinal Chemistry, 2019 Herein, we report the effect of nine FDA approved protease inhibitor drugs against a new HIV-1 subtype C mutant protease, E35D↑G↑S. The mutant has five mutations, E35D, two insertions, position 36 (G and S), and D60E.
Sibusiso Maseko +9 more
doaj +1 more source
FUS mutant human motoneurons display altered transcriptome and microRNA pathways with implications for ALS pathogenesis [PDF]
, 2017 The FUS gene has been linked to amyotrophic lateral sclerosis (ALS). FUS is a ubiquitous RNA-binding protein, and the mechanisms leading to selective motoneuron loss downstream of ALS-linked mutations are largely unknown.
Alfano, Vincenzo +7 more
core +2 more sources
Chemistry & Biology, 2014 Gaucher's disease is a hereditary deficiency of the enzyme β-glucocerebrosidase (GCase) that is most commonly treated by enzyme replacement therapy. In this issue of Chemistry & Biology, Tan and colleagues search for alternative ways to rehabilitate mutant GCase by understanding how it interacts with the proteostasis network.
Rauch, Jennifer N. +1 more
openaire +2 more sources
Insulator dysfunction and oncogene activation in IDH mutant gliomas
Nature, 2015 Gain-of-function IDH mutations are initiating events that define major clinical and prognostic classes of gliomas. Mutant IDH protein produces a new onco-metabolite, 2-hydroxyglutarate, which interferes with iron-dependent hydroxylases, including the TET
William A. Flavahan +7 more
semanticscholar +1 more source
Mutant p53 on the Path to Metastasis.
Trends in Cancer, 2020 Metastasis contributes to the vast majority of cancer-related mortality. Regulatory mechanisms of the multistep invasion-metastasis cascade are being unraveled. TP53 is the most frequently mutated gene across human cancers.
Qiaosi Tang, Z. Su, W. Gu, A. Rustgi
semanticscholar +1 more source