Results 131 to 140 of about 425 (140)

Chromoanagenesis and Erythroderma as diagnostic clues in a critically ill patient

Genetics and Clinical Genomics
We report the case of a patient with severe multisystemic failure in which massive chromosomal changes in mosaic state were detected, which are considered to be associated with the possible underlying pathology: a T-cell lymphoproliferative syndrome.
Enrique Daniel Austin-Ward, Nicolás Hurtado, Nelson Santamaría, Alexis Pinto, German Espino   +4 more
openaire   +1 more source

Combination of Long-Read Sequencing and Hi-C Technology to Identify Chromoanagenesis Events in Cancer

Methods in Molecular Biology
Structural variants are of major importance in cancer genetics. Especially when it comes to the detection of complex structural variants as in chromoanagenesis, detection tools like array-CGH, karyotyping, or even whole-genome sequencing do not provide the necessary resolution and/or accuracy.
Lars Bullinger, Marius-Konstantin Klever   +1 more
exaly   +3 more sources

Recql5-Deficient Mice as a Model for Studying Chromoanagenesis Phenomena

Complex chromosomal rearrangements (CCRs) present significant challenges and opportunities in cancer and congenital disease research. Reproducing these rearrangements experimentally in animal models has been challenging, limiting our insights into their mechanisms and impacts.
Satoru, Iwata, Takashi, Iwamoto
openaire   +2 more sources

Transcription-Replication Conflicts and Incomplete Replication as a Cause of Micronuclei-Driven Chromoanagenesis

Cancers are characterized with altered genomes. Sequencing of thousands of cancer genomes has led to the identification of new types of complex genomic rearrangements that generate new chromosomes, known as chromoanagenesis. Chromothripsis is, to-date, the best characterized phenomenon of complex rearrangements, in which a single chromosome ...
Hervé, Técher, Philippe, Pasero
openaire   +2 more sources

Chromoanagenesis is a driver of structural variation in the smallest photosynthetic eukaryote

Abstract Marine microalgae populations can rapidly evolve resistance to viruses upon infection. In Ostreococcus mediterraneus resistance to the prasinovirus OmV2 emerged within five days in all virus-exposed populations.
Claire Bugnot, Tyler Alioto, Fernando Cruz Rodriguez, Jessica Gomez Garrido, Marta Gut, Sheree Yau, Gwenael Piganeau   +6 more
openaire   +1 more source

Computational Modeling of Chromoanagenesis- or Chromothripsis-Induced SNPs in Antiapoptotic Genes: Their Impact on Protein Structure and Function

Accurate detection of chromoanagenesis- or chromothripsis-induced single-nucleotide polymorphisms (SNPs) in antiapoptotic genes is crucial for understanding their impact on protein structure and function during cancer progression. To address this issue, we developed a computational model using the BCL2 gene to investigate the effects of chromothripsis ...
Sergey, Shityakov, Michael, Nosonovsky, Viacheslav, Kravtsov, Ekaterina V, Skorb   +3 more
openaire   +2 more sources

Case Report of a Complex Supernumerary Chromosome That Represents Constitutional Chromoanagenesis

Cancer Genetics, 2016
Mary Haddadin, Loretta Mahon, James Ray, Wang Shirong, Renius Owen, Fatih Boyar, Charles Strom   +6 more
openaire   +1 more source

Chromoanagenesis

openaire   +1 more source

Chromoanagenesis Is Frequently Associated With Highly Complex Karyotypes, Extensive Clonal Heterogeneity, and Treatment Refractoriness in Acute Myeloid Leukemia

American Journal of Hematology
Naval Daver, Shimin Hu, Sanam Loghavi
exaly  

1239 Chromoanagenesis Independently Predicts Poorer Survival in Myelodysplastic Syndromes with Complex Karyotypes

Laboratory Investigation
Kim Hoang Ly Nguyen, Carlos Bueso-Ramos, Tasnuva Rashid, Keyur Patel, Guilin Tang, Gokce Toruner, L. Jeffrey Medeiros, Rajyalakshmi Luthra, Rashmi Kanagal-Shamanna   +8 more
openaire   +1 more source