Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies

C O'Keefe, MA McDevitt… - Blood, The Journal of …, 2010 - ashpublications.org
Single nucleotide polymorphism arrays (SNP-A) have recently been widely applied as a
powerful karyoty** tool in numerous translational cancer studies. SNP-A complements …

Spatial-temporal genome regulation in stress-response and cell-fate change

J Erenpreisa, A Giuliani, K Yoshikawa, M Falk… - International Journal of …, 2023 - mdpi.com
Complex functioning of the genome in the cell nucleus is controlled at different levels:(a) the
DNA base sequence containing all relevant inherited information;(b) epigenetic pathways …

HumCFS: a database of fragile sites in human chromosomes

R Kumar, G Nagpal, V Kumar, SS Usmani, P Agrawal… - BMC genomics, 2019 - Springer
Background Fragile sites are the chromosomal regions that are susceptible to breakage,
and their frequency varies among the human population. Based on the frequency of fragile …

Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes

A Mohamedali, J Gäken, NA Twine… - Blood, The Journal …, 2007 - ashpublications.org
Low-risk myelodysplastic syndrome (MDS) with normal cytogenetics accounts for
approximately 50% of MDS patients. There are no pathognomonic markers in these cases …

Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones

K Mrasek, C Schoder… - International …, 2010 - spandidos-publications.com
Since the first description of human fragile sites (FS) more than 40 years ago, a variety of
substances were reported to induce chromosomal breaks at non-random, breakage-prone …

Pathogenesis and consequences of uniparental disomy in cancer

H Makishima, JP Maciejewski - Clinical Cancer Research, 2011 - aacrjournals.org
The systematic application of new genome-wide single nucleotide polymorphism arrays has
demonstrated that somatically acquired regions of loss of heterozygosity without changes in …

BCR: a promiscuous fusion partner in hematopoietic disorders

MN Peiris, F Li, DJ Donoghue - Oncotarget, 2019 - pmc.ncbi.nlm.nih.gov
Considerable advances have been made in our understanding of the molecular basis of
hematopoietic cancers. The discovery of the BCR-ABL fusion protein over 50 years ago has …

Chromosome instability in cancer: how, when, and why?

D Gisselsson - Advances in cancer research, 2003 - Elsevier
The majority of malignant tumors exhibit complex genomic aberrations, and it has been
suggested that an elevated rate of chromosome mutation is present in neoplastic cells. This …

Replication through repetitive DNA elements and their role in human diseases

A Madireddy, J Gerhardt - DNA Replication: From Old Principles to New …, 2017 - Springer
Human cells contain various repetitive DNA sequences, which can be a challenge for the
DNA replication machinery to travel through and replicate correctly. Repetitive DNA …

Mechanisms and clinical applications of chromosomal instability in lymphoid malignancy

MM Krem, OW Press, MS Horwitz… - British journal of …, 2015 - Wiley Online Library
Lymphocytes are unique among cells in that they undergo programmed DNA breaks and
translocations, but that special property predisposes them to chromosomal instability (CIN) …