Results 81 to 90 of about 178,485 (305)

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. [PDF]

open access: yes, 2017
BackgroundA key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor ...
Bartlett, John MS   +5 more
core   +1 more source

Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density‐Dependent Mechanisms in Aldosterone‐Producing Adenomas

open access: yesAdvanced Science, EarlyView.
Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun   +7 more
wiley   +1 more source

Interferon‐Driven Biomarkers and Synergistic Therapy for PRMT5 Inhibition in Triple‐Negative Breast Cancer

open access: yesAdvanced Science, EarlyView.
Triple‐negative breast cancer exhibits variable sensitivity to PRMT5 inhibition. Basal interferon signaling is identified as a key biomarker of response. PARP inhibition with olaparib induces IFN signaling, sensitizing resistant TNBC cells to PRMT5 inhibitors.
Ziwen Zhang   +9 more
wiley   +1 more source

C6orf10 low-frequency and rare variants in italian multiple sclerosis patients [PDF]

open access: yes, 2019
In light of the complex nature of multiple sclerosis (MS) and the recently estimated contribution of low-frequency variants into disease, decoding its genetic risk components requires novel variant prioritization strategies.
Balestra, Dario   +16 more
core   +2 more sources

The Tumor‐to‐Endothelial Transfer of FTO Promotes Vascular Remodeling and Metastasis in Nasopharyngeal Carcinoma

open access: yesAdvanced Science, EarlyView.
Integrated omics analysis of matched primary and liver metastatic NPC tumors reveals a unique NOTCH1+ CSC subpopulation exhibiting enhanced stemness properties and tumorigenic capacity. With in vitro and in vivo assays, exosomal transfer of tumor‐derived FTO from NOTCH1+ cells to the endothelium promotes vascular permeability and metastatic potential ...
Chun Wu   +23 more
wiley   +1 more source

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

open access: yesBMC Medical Genomics, 2012
Background Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the wide range of potential results.
Facio Flavia M   +3 more
doaj   +1 more source

The challenge of consent in clinical genome-wide testing [PDF]

open access: yes, 2016
Genome-wide testing methods include array comparative genomic hybridisation (aCGH), multiple gene panels, whole exome sequencing (WE) and whole genome sequencing (WGS).
Burke, Katherine, Clarke, Angus
core   +2 more sources

PARPi Combining Nanoparticle LIN28B siRNA for the Management of Malignant Ascites

open access: yesAdvanced Science, EarlyView.
This study demonstrates that co‐inhibition of LIN28B and PARP using siLin28b/DSSP@lip‐PEG‐FA nanoparticles in combination with the PARP inhibitor BMN673 effectively suppresses the accumulation of malignant ascites associated with advanced cancers.
Yan Fang   +13 more
wiley   +1 more source

Targeting WEE1 in ARID1A/TP53 Concurrent Mutant Colorectal Cancer by Exploiting R‐Loop Accumulation and DNA Repair Deficiencies

open access: yesAdvanced Science, EarlyView.
ARID1A, a SWI/SNF complex component, is frequently mutated in colorectal cancer (CRC). CRC with ARID1A/TP53 concurrent mutations shows marked sensitivity to WEE1 inhibition. ARID1A loss induces R‐loop‐mediated replication stress, impairs ATF3 transcription, and amplifies WEE1i‐induced DNA damage, suggesting a promising therapeutic vulnerability ...
Chi Zhang   +17 more
wiley   +1 more source

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

open access: yesBMC Pregnancy and Childbirth
Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice.
Pengzhen Jin   +5 more
doaj   +1 more source

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