Results 181 to 190 of about 1,816,562 (311)

ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma‐cfDNA of advanced breast cancer patients: A feasibility proof‐of‐concept study

Molecular Oncology, EarlyView.
Circulating tumor cells (CTCs) and plasma cell‐free DNA (cfDNA) were analyzed to detect ESR1 mutations and methylation in patients with advanced breast cancer. CTC‐derived DNA showed higher sensitivity for mutation detection and revealed complementary genetic and epigenetic alterations, highlighting the added value of CTC analysis for understanding ...
Dimitra Stergiopoulou, Athina Markou, Eleonora Nicolo, Mara S Serafini, Qiang Zhang, Youbin Zhang, Lorenzo Gerratana, Andrew A. Davis, Huiping Liu, William J Gradishar, Carolina Reduzzi, Massimo Cristofanilli, Evi Lianidou   +12 more
wiley   +1 more source

Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome. [PDF]

J Med Genet
Liu T, Liu H, Deng R, Jianhui Q, Zhang Z, Wang C, Bao Y, Chen X, Song Z, He T, Cai L, Wang Y, Zhou J, Gong K.   +13 more
europepmc   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Detection of Papua New Guinea Thalassemia Alpha Mutation in Gayo, Sumba, Ternate, and Timika Populations

Papua New Guinea (PNG) mutation is a point mutation that occurs in noncoding region of alpha globin clusters. Polymorphism promotes an additional recognition site for transcription factor (GATA-1) which presumably downregulates alpha globin synthesis ...
Abinawanto, Risya Nurfitriani, Rintis Noviyanti, Lely Trianti, Ita M. Nainggolan   +4 more
core  

Molecular surveillance of Plasmodium falciparum resistance to sulfadoxine-pyrimethamine among pregnant women attending antenatal clinics in Bobo-Dioulasso, Burkina Faso. [PDF]

Parasite
Cissé M, Soulama A, Silga EW, Gomgnimbou MK.   +3 more
europepmc   +1 more source

Proteasome inhibitor, ixazomib prevents topoisomerase‐I degradation and reverses irinotecan resistance in colorectal cancer

Molecular Oncology, EarlyView.
Ixazomib inhibits proteasome‐mediated degradation of topoisomerase I induced by irinotecan, thereby restoring drug sensitivity and promoting tumor cell death in colorectal cancer. Irinotecan, a topoisomerase I (topoI) inhibitor, is widely used for colorectal cancer, but resistance remains a major clinical challenge.
Yuho Ebata, Koji Ando, Hirofumi Hasuda, Koshi Mimori, Elizabeth C. Unan, Siddhartha Pulukuri, Aahana Tiku, Allison Berger, Eiji Oki, Ajit Bharti, Tomoharu Yoshizumi   +10 more
wiley   +1 more source

Mutator Mutation in Carcinogenesis.

Kagaku To Seibutsu, 1996
openaire   +2 more sources

Extended sequence context shapes mutational bias in <i>Escherichia coli</i>. [PDF]

Proc Natl Acad Sci U S A
Jago MJ, Green R, Czernuszka MR, Denisov S, Krašovec R, Knight CG, Lagator M.   +6 more
europepmc   +1 more source

Circulating tumor cell viability during and after radiotherapy mirrors treatment response in cancer patients

Molecular Oncology, EarlyView.
Radiotherapy (RT) response depends on the DNA repair capacity of tumor and host cells. We show that circulating tumor cell (CTC) counts and apoptosis rates before and after RT predict treatment response and outcome, which can be accessed via easily accessible liquid biopsy approaches. Created in BioRender. Wikman, H.
Yvonne Goy, Jana Löptien, Cornelia Coith, Afroditi Nanou, Katharina Hintelmann, Pinnschmidt Hans, Cordula Petersen, Klaus Pantel, Sabine Riethdorf, Kerstin Borgmann, Harriet Wikman   +10 more
wiley   +1 more source

BRAFV600E mutation in high-grade dysplastic nevi: contributions to the distinction from early melanomas. [PDF]

An Bras Dermatol
Amorim CV, Lima NF, Moura Firmo CSS, Ferreira LÁ, Mancini TI, Bendit I, Cintra ML, Nardinelli L.   +7 more
europepmc   +1 more source