Results 121 to 130 of about 1,274,518 (371)

Detection of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing

open access: yesScience Translational Medicine, 2012
Massively parallel sequencing directly detects tumor-derived chromosomal alterations in plasma DNA from cancer patients. Getting Harder to Hide It might be challenging, but game players can usually answer the question: “Where’s Waldo?” After all, we’ve ...
R. Leary   +11 more
semanticscholar   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

open access: yesMolecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Chromosomal deletions and inversions mediated by TALENs and CRISPR/Cas in zebrafish

open access: yesNucleic Acids Research, 2013
Customized TALENs and Cas9/gRNAs have been used for targeted mutagenesis in zebrafish to induce indels into protein-coding genes. However, indels are usually not sufficient to disrupt the function of non-coding genes, gene clusters or regulatory ...
An Xiao   +12 more
semanticscholar   +1 more source

A large‐scale retrospective study in metastatic breast cancer patients using circulating tumour DNA and machine learning to predict treatment outcome and progression‐free survival

open access: yesMolecular Oncology, EarlyView.
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes   +20 more
wiley   +1 more source

MET and NF2 alterations confer primary and early resistance to first‐line alectinib treatment in ALK‐positive non‐small‐cell lung cancer

open access: yesMolecular Oncology, EarlyView.
Alectinib resistance in ALK+ NSCLC depends on treatment sequence and EML4‐ALK variants. Variant 1 exhibited off‐target resistance after first‐line treatment, while variant 3 and later lines favored on‐target mutations. Early resistance involved off‐target alterations, like MET and NF2, while on‐target mutations emerged with prolonged therapy.
Jie Hu   +11 more
wiley   +1 more source

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

open access: yesMolecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez   +17 more
wiley   +1 more source

Rainfall-driven sex-ratio genes in African buffalo suggested by correlations between Y-chromosomal haplotype frequencies and foetal sex ratio

open access: yesBMC Evolutionary Biology, 2010
Background The Y-chromosomal diversity in the African buffalo (Syncerus caffer) population of Kruger National Park (KNP) is characterized by rainfall-driven haplotype frequency shifts between year cohorts.
Greyling Barend J   +7 more
doaj   +1 more source

HDAC4 regulates apoptosis in Acan‐CreERT2;HDAC4d/d mice with osteoarthritis by downregulating ATF4

open access: yesFEBS Open Bio, EarlyView.
Using the AcanCreERT2;HDAC4fl/fl genetic mouse model, we further investigated the role of histone deacetylase 4 (HDAC4) in chondrocyte apoptosis. We found that knocking down HDAC4 may be associated with chondrocyte apoptosis by upregulating the activating transcription factor 4 (ATF4)/CAAT/enhancer binding protein homologous (CHOP) signaling pathway ...
Jingrui Huang   +11 more
wiley   +1 more source

Molecular mechanism in a rare autosomal recessive case of xeroderma pigmentosum - a case report

open access: yesNational Journal of Clinical Anatomy, 2014
Chromosomal instability syndromes are a special group of disorders of cytogenetic interest which comprises of several rare, autosomal recessive conditions.
Vijaya Ramanathan, Anand Ramanathan
doaj   +1 more source

New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree.

open access: yesGenome Research, 2008
Markers on the non-recombining portion of the human Y chromosome continue to have applications in many fields including evolutionary biology, forensics, medical genetics, and genealogical reconstruction.
T. Karafet   +5 more
semanticscholar   +1 more source

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