Results 201 to 210 of about 9,771,651 (424)

Detection rate for ESR1 mutations is higher in circulating‐tumor‐cell‐derived genomic DNA than in paired plasma cell‐free DNA samples as revealed by ddPCR

open access: yesMolecular Oncology, EarlyView.
Analysis of ESR1 mutations in plasma cell‐free DNA (cfDNA) is highly important for the selection of treatment in patients with breast cancer. Using multiplex‐ddPCR and identical blood draws, we investigated whether circulating tumor cells (CTCs) and cfDNA provide similar or complementary information for ESR1 mutations.
Stavroula Smilkou   +11 more
wiley   +1 more source

Medical Genetics in Clinical Practice [PDF]

open access: yes, 2018
Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an
Beighton, PH, Nelson, MM
core   +1 more source

Robust acute myeloid leukemia engraftment in humanized scaffolds using injectable biomaterials and intravenous xenotransplantation

open access: yesMolecular Oncology, EarlyView.
Patient‐derived xenografts (PDXs) can be improved by implantation of a humanized niche. We tested different biomaterials and approaches, and demonstrate that the combination of an injectable biomaterial for scaffold creation plus an intravenous route for acute myeloid leukemia (AML) xenotransplantation provide the most convenient and robust approach to
Daniel Busa   +13 more
wiley   +1 more source

Targeted metabolomics reveals novel diagnostic biomarkers for colorectal cancer

open access: yesMolecular Oncology, EarlyView.
This study employed targeted metabolomic profiling to identify 302 distinct metabolites present in platelet‐rich plasma (PRP), revealing aberrant metabolic profiles amongst individuals diagnosed with colorectal cancer (CRC). Compared to carcinoembryonic antigen (CEA) and cancer antigen 19‐9 (CA199), our metabolite panel showed improved sensitivity ...
Zuojian Hu   +7 more
wiley   +1 more source

Molecular genetics of Alport syndrome: the clinical consequences [PDF]

open access: bronze, 1993
Bertrand Knebelmann   +3 more
openalex   +1 more source

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.

open access: yesJournal of the American College of Cardiology, 2018
J. I. van Waning   +23 more
semanticscholar   +1 more source

KMT2A degradation is observed in decitabine‐responsive acute lymphoblastic leukemia cells

open access: yesMolecular Oncology, EarlyView.
We demonstrate that decitabine (DEC) not only degrades the DNA methyltransferase DNMT1 but also the leukemic driver lysine methyltransferase KMT2A likely due to structural similarity of the DNA‐binding CXXC domains. DEC influences KMT2A downstream processes and synergizes with menin inhibitor revumenib (REV) to decrease leukemic cell proliferation, and
Luisa Brock   +10 more
wiley   +1 more source

Unveiling differential gene co-expression networks and its effects on levodopa-induced dyskinesia

open access: yesiScience
Summary: Levodopa-induced dyskinesia (LID) refers to involuntary motor movements of chronic use of levodopa in Parkinson’s disease (PD) that negatively impact the overall well-being of people with this disease.
Tatiane Piedade de Souza   +11 more
doaj  

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