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Prediction of the 3D cancer genome from whole-genome sequencing using InfoHiC.
Mol Syst Biol
November 2024
School of Electrical Engineering and Computer Science, Gwangju Institute of Science and Technology, 123 Cheomdangwagi-ro, Buk-gu, Gwangju, 61005, Republic of Korea.
Article Synopsis
- The study introduces InfoHiC, a framework for predicting the 3D structure of cancer genomes using whole-genome sequencing data, focusing on structural variations (SVs) in noncoding regions.
- InfoHiC was tested on breast cancer and medulloblastoma data, revealing significant findings such as super-enhancer hijacking linked to poor survival in breast cancer patients and SVs affecting driver genes in medulloblastoma.
- The researchers made their trained models available online, facilitating further investigation into the role of SVs in cancer and potential new treatment targets.
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
J Thromb Haemost
April 2024
Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany. Electronic address:
Background: The transcription factor GATA1 is an essential regulator of erythroid cell gene expression and maturation and is also relevant for platelet biogenesis. GATA1-related thrombocytopenia (GATA1-RT) is a rare X-linked inherited platelet disorder (IPD) characterized by macrothrombocytopenia and dyserythropoiesis. Enlarged platelet size, reduced platelet granularity, and noticeable red blood cell anisopoikilocytosis are characteristic but unspecific morphological findings in GATA1-RT.
View Article and Find Full Text PDFRNAseq-based transcriptomics of treatment-naïve multi-inflammatory syndrome in children (MIS-C) demonstrates predominant activation of matrisome, innate and humoral immune pathways.
Rheumatol Int
August 2024
Department of Clinical Immunology and Rheumatology, Kalinga Institute of Medical Sciences, KIIT University, Bhubaneswar, 751024, India.
MIS-C is a rare, highly inflammatory state resembling incomplete Kawasaki disease, temporarily associated with COVID-19. The pathogenesis is not completely known. RNAseq was carried out on whole blood of six treatment-naïve MIS-C patients.
View Article and Find Full Text PDFNovel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue.
Histopathology
December 2023
Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
Aims: Angiofibroma of soft tissue is a benign soft tissue tumour characterised by bland spindle cells and a distinct branching vascular network. The majority of soft tissue angiofibromas harbour AHRR::NCOA2 gene fusions. Here we present three cases of EWSR1::GFI1B-fused soft tissue tumours that are morphologically most reminiscent of soft tissue angiofibroma.
View Article and Find Full Text PDFPlatelet transcriptome analysis in patients with germline RUNX1 mutations.
J Thromb Haemost
May 2023
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-U765, Murcia, Spain. Electronic address:
Background: Germline mutations in RUNX1 can cause a familial platelet disorder that may lead to acute myeloid leukemia, an autosomal dominant disorder characterized by moderate thrombocytopenia, platelet dysfunction, and a high risk of developing acute myeloid leukemia or myelodysplastic syndrome. Discerning the pathogenicity of novel RUNX1 variants is critical for patient management.
Objectives: To extend the characterization of RUNX1 variants and evaluate their effects by transcriptome analysis.
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