Results 81 to 90 of about 160,061 (270)

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source

Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report

Mediterranean Journal of Hematology and Infectious Diseases, 2016
We present a case of a 78-year-old woman presented with thrombocytosis and high blast count, who had a history of splenectomy. Her cytogenetic analysis revealed aberrant chromosomal rearrangements in different clonal populations harboring 46XX karyotype ...
najmaldin saki, Mohammad Seghatoleslami, Neda Ketabchi, Alireza Ordo, Javad Mohammadi-Asl, Neda Golchin   +5 more
doaj   +1 more source

BEX1 promotes imatinib-induced apoptosis by binding to and antagonizing BCL-2. [PDF]

PLoS ONE, 2014
An enhanced anti-apoptotic capacity of tumor cells plays an important role in the process of breakpoint cluster region/Abelson tyrosine kinase gene (BCR/ABL)-independent imatinib resistance. We have previously demonstrated that brain expressed X-linked 1
Qian Xiao, Yeting Hu, Yue Liu, Zhanhuai Wang, Haitao Geng, Lifeng Hu, Dengyong Xu, Ke Wang, Lei Zheng, Shu Zheng, Kefeng Ding   +10 more
doaj   +1 more source

Interpretation of in vitro concentration‐response data for risk assessment and regulatory decision‐making: Report from the 2022 IWGT quantitative analysis expert working group meeting

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Quantitative risk assessments of chemicals are routinely performed using in vivo data from rodents; however, there is growing recognition that non‐animal approaches can be human‐relevant alternatives. There is an urgent need to build confidence in non‐animal alternatives given the international support to reduce the use of animals in toxicity ...
Marc A. Beal, Guangchao Chen, Kerry L. Dearfield, Min Gi, Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Alexandra S. Long, David P. Lovell, Barbara L. Parsons, Stefan Pfuhler, John Wills, Andreas Zeller, George Johnson, Paul A. White   +14 more
wiley   +1 more source

Identification of two distinct MYC breakpoint clusters and their association with various IGH breakpoint regions in the t(8;14) translocations in sporadic Burkitt-lymphoma [PDF]

Leukemia, 2007
The chromosomal translocation t(8;14) is the hallmark of Burkitt's-lymphoma (BL) and fuses the proto-oncogene c-MYC to the IGH locus. We analyzed the genomic structure of MYC/IGH fusions derived from a large series of 78 patients with t(8;14) and asked (i) whether distinct breakpoint clusters exist within the MYC gene and (ii) whether any pairwise ...
A Novosel, Klose I, Alfred Reiter, Jochen Harbott, Joseph L. Wiemels, Uta Fuchs, Kerstin Busch, Thomas Keller, Arndt Borkhardt, Yeh Rf   +9 more
openaire   +3 more sources

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Mechanisms of enhancer‐driven oncogene activation

International Journal of Cancer, EarlyView.
Abstract An aggressive subtype of acute myeloid leukemia (AML) is caused by enhancer hijacking resulting in MECOM overexpression. Several chromosomal rearrangements can lead to this: the most common (inv(3)/t(3;3)) results in a hijacked GATA2 enhancer, and there are several atypical MECOM rearrangements involving enhancers from other hematopoietic ...
Joyce Vriend, Ruud Delwel, Dorien Pastoors   +2 more
wiley   +1 more source

Etoposide-induced DNA damage in a chromosomal breakpoint of RUNX1 gene is independent of RUNX1 expression

Leukemia Research Reports, 2019
In this work, we analyzed the association between RUNX1 gene expression and the accessibility of BCR3, one of RUNX1 gene breakpoint regions involved in the chromosomal translocation (8;21), a frequent translocation in treatment-related acute myeloid ...
Nicolás Schnake, Soraya Gutiérrez
doaj  

Epigenetic reprogramming in multiple myeloma—Challenges and opportunities

International Journal of Cancer, EarlyView.
Abstract In cancer, mutational processes act in concert with epigenetic reprogramming to endow malignant cells with hallmark properties that underpin tumorigenesis. Compared with the relatively rigid and slow processes of genetic evolution, the plastic nature of chromatin enables cells to adapt to a changing environment more rapidly.
Subhasree Kumar, Lev M. Kats, Emily Gruber   +2 more
wiley   +1 more source

Does the breakpoint within the major breakpoint cluster region (M-bcr) influence the duration of the chronic phase in chronic myeloid leukemia? An analytical comparison of current literature [see comments] [PDF]

, 1991
Ken Mills, Peter Benn, GD Birnie
openalex   +3 more sources