Results 201 to 210 of about 4,570,575 (370)

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

Molecular 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, Aliki Ntzifa, Victoria Tserpeli, Ioanna Balgkouranidou, Alkistis Papatheodoridi, Evangelia Razis, Helena Linardou, Christos Papadimitriou, Amanda Psyrri, Flora Zagouri, Stylianos Kakolyris, Evi Lianidou   +11 more
wiley   +1 more source

A Graph-based Approach to Variant Extraction [PDF]

arXiv
Accurate variant descriptions are of paramount importance in the field of genetics. The domain is confronted with increasingly complex variants, making it more challenging to generate proper variant descriptions. We present a graph based on all minimal alignments that is a complete representation of a variant and we provide three complementary ...
arxiv  

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

Molecular 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, Zdenka Herudkova, Jan Hyl, Jakub Vlazny, Filip Sokol, Kvetoslava Matulova, Adam Folta, Jakub Hynst, Lucy Vojtova, Leos Kren, Martin Repko, Zdenek Racil, Jiri Mayer, Martin Culen   +13 more
wiley   +1 more source

Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase. Kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure.

, 1976
A O Babalola, J. G. Beetlestone, Lucio Luzzatto   +2 more
openalex   +1 more source

Targeted metabolomics reveals novel diagnostic biomarkers for colorectal cancer

Molecular 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, Fenglin Shen, Yang Liu, Ziqing Zhong, Yongling Chen, Zhiyuan Xia, Cuiju Mo, Hongxiu Yu   +7 more
wiley   +1 more source

GENETIC AND MORPHOLOGICAL PROPERTIES OF UNDIFFERENTIATED AND INVASIVE VARIANTS OF ASPERGILLUS NIDULANS

, 1970
Gordon L. Dorn
openalex   +2 more sources

Late onset 21-hydroxylase deficiency is a genetic variant of the classic form of congenital adrenal hyperplasia (CAH) [PDF]

, 1981
George P. Chrousos, Gordon B. Cutler, David G. Mann, D. Lynn Loriaux   +3 more
openalex   +1 more source

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

Molecular 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, Lina Benzien, Sandra Lange, Maja Huehns, Alexandra Runge, Catrin Roolf, Anett Sekora, Gudrun Knuebel, Hugo Murua Escobar, Christian Junghanss, Anna Richter   +10 more
wiley   +1 more source

The genetic basis of severe combined immunodeficiency and its variants

The Application of Clinical Genetics, 2012
Diana Tasher,1,2 Ilan Dalal1,21The Pediatric Infectious and Immunology Unit, E Wolfson Medical Center, Holon, Israel; 2The Sackler School of Medicine, Tel Aviv University, Tel Aviv, IsraelAbstract: Severe combined immunodeficiency (SCID) syndromes are ...
Tasher D, Dalal I
doaj  

Outlier Detection in Mendelian Randomisation [PDF]

arXiv
Mendelian Randomisation (MR) uses genetic variants as instrumental variables to infer causal effects of exposures on an outcome. One key assumption of MR is that the genetic variants used as instrumental variables are independent of the outcome conditional on the risk factor and unobserved confounders. Violations of this assumption, i.e.
arxiv