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Genetic Characteristics of the Rat Fibroblast Cell Line Rat-1.
Cells
December 2024
Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH, University Hospital Aachen, D-52074 Aachen, Germany.
The Rat-1 cell line was established as a subclone of the parental rat fibroblastoid line F2408, derived from Fisher 344 rat embryos. Rat-1 cells are widely used in various research fields, especially in cancer biology, to study the effects of oncogenes on cell proliferation. They are also crucial for investigating signal transduction pathways and play a key role in drug testing and pharmacological studies due to their rapid proliferation.
View Article and Find Full Text PDF[The role of cytogenetic tests in the diagnosis of malignant hematologic diseases].
Magy Onkol
December 2024
Laboratóriumi Medicina Intézet, Debreceni Egyetem, Általános Orvostudományi Kar, Klinikai Genetikai Tanszék, Debrecen, Hungary.
In malignant hematological diseases, clonal genetic alterations, such as chromosomal aberrations and gene mutations, are responsible for the uncontrolled division of abnormal hemopoietic cells. The detection of clonal variants has not only diagnostic, but also prognostic and therapeutic significance. They enable risk-based differentiated treatment of patients and the use of targeted (genotype-specific) therapies.
View Article and Find Full Text PDFBurkitt lymphoma.
Hum Pathol
December 2024
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. Electronic address:
Burkitt lymphoma is a mature aggressive B-cell neoplasm with distinctive clinical and morphologic features, a germinal center B-cell immunophenotype, a high proliferation index and MYC rearrangement with an immunoglobulin gene partner. Initially described in equatorial Africa by a surgeon, Denis Burkitt, African (endemic) Burkitt lymphoma was the first neoplasm shown to be associated with a virus, Epstein-Barr virus (EBV), and the first neoplasm shown to be associated with a chromosomal translocation, IGH::MYC. In this article, we provide a brief historical introduction of Burkitt lymphoma, followed by a review of all aspects of this neoplasm including pathogenesis, clinical presentation, morphology, immunophenotype, cytogenetics and molecular findings.
View Article and Find Full Text PDFRenal manifestations of MGUS.
Hematology Am Soc Hematol Educ Program
December 2024
Department of Hematology and Cellular Therapy, Centre de référence maladies rares, Amylose AL et autres maladies par dépôts d'immunoglobulines monoclonales, Centre Hospitalier Universitaire Limoges, Université de Limoges, Limoges, France.
Kidney disease is a common complication of monoclonal immunoglobulin (MIg)-secreting B-cell disorders and predominantly occurs in patients who do not meet the criteria for an overt hematological disease. To distinguish this situation from monoclonal gammopathy of undetermined significance, which lacks organ damage, the term monoclonal gammopathy of renal significance (MGRS) was introduced to depict the association of a small, otherwise indolent B-cell clone, with renal disease induced by the secreted MIg. The spectrum of renal disorders in MGRS is wide, encompassing both tubular and glomerular disorders, classified according to the composition of deposits and their ultrastructural pattern of organization.
View Article and Find Full Text PDFThe ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
medRxiv
November 2024
Translational Research, Illumina Inc., Cambridge, Cambridgeshire, United Kingdom.
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.
Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.
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