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Published in 2024 at "Angiogenesis"
DOI: 10.1007/s10456-024-09934-8
Abstract: Arteriovenous malformations (AVM) are benign vascular anomalies prone to pain, bleeding, and progressive growth. AVM are mainly caused by mosaic pathogenic variants of the RAS-MAPK pathway. However, a causative variant is not identified in all…
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Keywords:
arteriovenous malformations;
mapk signaling;
ras mapk;
somatic rit1 ... See more keywords
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Published in 2017 at "Biochemical Pharmacology"
DOI: 10.1016/j.bcp.2017.06.084
Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenetic disease characterized by progressive development of renal cysts that leads to end stage renal disease. The aim of this study was to investigate the effect…
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Keywords:
cyst;
ras mapk;
ganoderma triterpenes;
development ... See more keywords
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Published in 2022 at "Signal Transduction and Targeted Therapy"
DOI: 10.1038/s41392-021-00870-3
Abstract: Despite high initial response rates, acute myeloid leukemia (AML) treated with the BCL-2–selective inhibitor venetoclax (VEN) alone or in combinations commonly acquires resistance. We performed gene/protein expression, metabolomic and methylation analyses of isogenic AML cell…
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Keywords:
acute myeloid;
activation;
resistance;
myeloid leukemia ... See more keywords
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Published in 2019 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy412
Abstract: Noonan syndrome (NS), the most common RASopathy, is caused by mutations affecting signaling through RAS and the MAPK cascade. Recently, genome scanning has discovered novel genes implicated in NS, whose function in RAS-MAPK signaling remains…
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Keywords:
kelch domain;
noonan syndrome;
lztr1 mutations;
mapk signaling ... See more keywords
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Published in 2018 at "Genome research"
DOI: 10.1101/gr.239186.118
Abstract: Mosaic mutations present in the germline have important implications for reproductive risk and disease transmission. We previously demonstrated a phenomenon occurring in the male germline, whereby specific mutations arising spontaneously in stem cells (spermatogonia) lead…
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Keywords:
mutations dysregulating;
dysregulating ras;
selfish mutations;
selection ... See more keywords
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1
Published in 2017 at "Andrology"
DOI: 10.1111/andr.12390
Abstract: Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, learning disabilities and…
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Keywords:
cryptorchidism;
copy number;
isolated cryptorchidism;
mapk pathway ... See more keywords
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Published in 2022 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-22-0421
Abstract: Abstract Purpose: A consistent genetic alteration in vascular cancer epithelioid hemangioendothelioma (EHE) is the t(1;3)(p36;q25) chromosomal translocation, which generates a WWTR1(TAZ)-CAMTA1 (TC) fusion gene. TC is a transcriptional coactivator that drives EHE. Here, we aimed…
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Keywords:
ras mapk;
epithelioid hemangioendothelioma;
tumorigenesis;
growth ... See more keywords
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Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.am2018-3170
Abstract: Relapsed neuroblastoma tumors have an increased incidence of activating mutations in the RAS/MAPK pathway. Pre-clinical studies indicate these tumors have an increased sensitivity to inhibitors of the RAS/MAPK pathway but single-agent therapeutic approaches have rarely…
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Keywords:
mek1 inhibitors;
tram;
inhibition;
cell ... See more keywords
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3
Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-3878
Abstract: Introduction: Identifying parallel survival pathways or compensatory mechanisms that limit the response to targeted therapy is critical to discover effective combinatorial strategies for the treatment of lung cancer and to prevent emergence of drug resistance…
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Keywords:
ras mapk;
lung cancer;
kras mutant;
yap ... See more keywords
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Published in 2025 at "Cancer Research"
DOI: 10.1158/1538-7445.am2025-5510
Abstract: Identifying alternate survival pathways or compensatory mechanisms that limit the response to targeted therapy is critical to discover effective combinatorial strategies for lung cancer treatment and prevention of drug resistance.Using a combinatorial drug screen in…
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Keywords:
cancer;
resistance;
bet;
lung cancer ... See more keywords
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Published in 2023 at "Molecular Cancer Research"
DOI: 10.1158/1557-3125.ras23-a020
Abstract: Background: The importance of styryl benzyl sulfones that induce G2/M cell cycle arrest and apoptosis in tumor cells has raised interest in cancer therapeutics. Rigosertib (ON 01910.Na) has been characterized as a disruptor of multiple…
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Keywords:
ras mapk;
cell;
mapk signaling;
rigosertib ... See more keywords