Results 51 to 60 of about 16,100 (233)
Top cancer-associated protein targets for each cell line.
We ranked potential targets by predicted change in network potential when each protein was modeled as repressed, limited to proteins causally associated in cancer according to the Cosmic database.
Drew Williamson (11576909) +6 more
core +1 more source
The JAK-STAT pathway is central to cytokine signaling and controls normal physiology and disease. Aberrant activation via mutations that change amino acids in proteins of the pathway can result in diseases.
Markus Hoffmann, Lothar Hennighausen
doaj +1 more source
New Lung Cancer Panel for High-Throughput Targeted Resequencing [PDF]
We present a new next-generation sequencing-based method to identify somatic mutations of lung cancer. It is a comprehensive mutation profiling protocol to detect somatic mutations in 30 genes found frequently in lung adenocarcinoma.
Eun-Hye Kim +5 more
doaj +1 more source
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain +10 more
wiley +1 more source
Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer
MENIN is a scaffold protein encoded by the MEN1 gene that functions in multiple biological processes, including cell proliferation, migration, gene expression, and DNA damage repair.
Ruben C. Petreaca +4 more
core +1 more source
Background: Pulmonary sarcomatoid carcinoma (PSC) is a rare subtype of non-small cell lung cancer (NSCLC) with an aggressive clinical nature and poor prognosis.
Hina Khan +31 more
core +1 more source
Interpreting the effects of DNA polymerase variants at the structural level
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi +7 more
wiley +1 more source
This study shows that lung adenocarcinomas exploit developmental branching morphogenesis to acquire a therapy resistant basal‐like tumour cell state. This process was found to be regulated by combined TP53 loss‐of‐function and type‐I interferon signalling, identifying a novel axis for biomarker and therapeutic target discovery.
Kamila J Bienkowska +13 more
wiley +1 more source
PTPN11 encodes the SHP2 protein tyrosine phosphatase that activates the mitogen-activated protein kinase (MAPK) pathway upstream of KRAS and MEK. PTPN11/Shp2 somatic mutations occur frequently in Juvenile myelomonocytic leukaemia (JMML); however, the ...
Cathy E Richards +15 more
semanticscholar +1 more source
AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma
Objective: Uveal melanoma (UM) poses significant diagnostic and prognostic challenges due to its variable genetic landscape. We explore the use of a novel deep learning tool to assess the functional impact of genetic mutations in UM.
David J. Taylor Gonzalez, MD +8 more
doaj +1 more source

