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Rare Cell Population Analysis in Early-Stage Breast Cancer Patients.

Breast Cancer (Auckl)

January 2025

Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Background: Circulating rare cells participate in breast cancer evolution as systemic components of the disease and thus, are a source of theranostic information. Exploration of cancer-associated rare cells is in its infancy.

Objectives: We aimed to investigate and classify abnormalities in the circulating rare cell population among early-stage breast cancer patients using fluorescence marker identification and cytomorphology.

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The transsulfuration (TSS) pathway is an alternative source of cysteine for glutathione synthesis. Little of the TSS pathway in antioxidant capacity in sickle cell disease (SCD) is known. Here, we evaluate the effects of TSS pathway activation through cystathionine beta-synthase (CBS) to attenuate reactive oxygen species (ROS) and ferroptosis stresses in SCD.

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Purpose: Fetal nucleated red blood cells (fNRBCs) in the peripheral blood of pregnant women contain comprehensive fetal genetic information, making them an ideal target for non-invasive prenatal diagnosis (NIPD). However, challenges in identifying, enriching, and detecting fNRBCs limit their diagnostic potential.

Methods: To overcome these obstacles, we developed a novel biomimetic chip, replicating the micro-nano structure of red rose petals on polydimethylsiloxane (PDMS).

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Efficient and correction of hemoglobin Constant Spring mutation by prime editing in human hematopoietic cells.

Mol Ther Nucleic Acids

December 2024

Cyrus Tang Medical Institute, National Clinical Research Center for Hematologic Diseases, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, Suzhou, Jiangsu 215123, China.

Article Synopsis
  • - Hemoglobin Constant Spring (Hb CS) is a significant mutation linked to α-thalassemia caused by an anti-termination mutation in the α2-globin gene stop codon.
  • - A prime editing strategy was developed, demonstrating a successful introduction of Hb CS mutations in human cell lines (averaging 32% efficiency) and primary hematopoietic stem and progenitor cells (HSPCs) from healthy donors (averaging 27% efficiency).
  • - The prime editing process also corrected the Hb CS mutation to its normal form in HSPCs from patients with hemoglobin H Constant Spring, suggesting its potential as a therapeutic approach for treating this condition.
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Background: Recent studies have highlighted the importance of the cell-free DNA (cfDNA) methylation profile in detecting breast cancer (BC) and its different subtypes. We investigated whether plasma cfDNA methylation, using cell-free Methylated DNA Immunoprecipitation and High-Throughput Sequencing (cfMeDIP-seq), may be informative in characterizing breast cancer in patients with BRCA1/2 germline mutations for early cancer detection and response to therapy.

Methods: We enrolled 23 BC patients with germline mutation of BRCA1 and BRCA2 genes, 19 healthy controls without BRCA1/2 mutation, and two healthy individuals who carried BRCA1/2 mutations.

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