[HTML][HTML] Allele-specific chromosome removal after Cas9 cleavage in human embryos

MV Zuccaro, J Xu, C Mitchell, D Marin, R Zimmerman… - Cell, 2020 - cell.com
… for the mutant allele, we derived two embryonic stem cell (ESC) … Although this does not rule
out all deletions, deletions of a few … a translocation would affect two or more chromosomes. …

Radiotherapy is associated with a deletion signature that contributes to poor outcomes in patients with cancer

E Kocakavuk, KJ Anderson, FS Varn, KC Johnson… - Nature …, 2021 - nature.com
… We assessed the impact of RT and/or TMZ on the somatic … We evaluated whole-genome
sequencing-derived mutational … This work extends our knowledge on the genomic response

[HTML][HTML] MACHETE identifies interferon-encompassing chromosome 9p21. 3 deletions as mediators of immune evasion and metastasis

FM Barriga, KM Tsanov, YJ Ho, N Sohail, A Zhang… - Nature Cancer, 2022 - nature.com
… To dissect the mechanisms by which 4C4 deletions influence PDAC phenotypes, we performed
RNA-… Analysis of an experimentally derived type I IFN response signature (Methods and …

Immune evasion in HPV head and neck precancer–cancer transition is driven by an aneuploid switch involving chromosome 9p loss

WN William Jr, X Zhao, JJ Bianchi… - Proceedings of the …, 2021 - National Acad Sciences
… suppression, but deletion of the entire arm was necessary to … evaluated CN influence on
immune profiles and outcomes in … response and resistance to immunotherapy include deletion

Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing

ML Leibowitz, S Papathanasiou, PA Doerfler… - Nature …, 2021 - nature.com
… genome editing can cause local DNA rearrangements and deletions up to several … , we did
not detect LOH that would be suggestive of chromothripsis in hematopoietic colonies derived

[HTML][HTML] SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in …

FC Radio, K Pang, A Ciolfi, MA Levy… - The American Journal of …, 2021 - cell.com
… This condition is molecularly and clinically heterogeneous. Deletions involving two non-…
proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical …

The multiple fates of gene duplications: deletion, hypofunctionalization, subfunctionalization, neofunctionalization, dosage balance constraints, and neutral variation

JA Birchler, H Yang - The Plant Cell, 2022 - academic.oup.com
… The fate of duplicate genes and their impact to some … is operative in that deletion or mutation
of one member of a pair could have little impact on the organism compared to deletion or …

Acquired genetic changes in human pluripotent stem cells: origins and consequences

J Halliwell, I Barbaric, PW Andrews - Nature Reviews Molecular Cell …, 2020 - nature.com
… cells, PSCs are programmed to die in response to genomic … base changes and small insertions
and deletions (indels) 21 , … their potential impact before research with a particular line is

Chromosomal alterations among age-related haematopoietic clones in Japan

C Terao, A Suzuki, Y Momozawa, M Akiyama… - Nature, 2020 - nature.com
deletion regions in the BBJ dataset: at FHIT on chromosome … , these results indicate a key
role of DNA damage-response … mortality outcomes (including cause of death), which were

Y-chromosome microdeletions: a review of prevalence, screening, and clinical considerations

MJ Rabinowitz, PJ Huffman, NM Haney… - The Application of …, 2021 - Taylor & Francis
… guidelines, the PCR reaction should utilize sequence-tagged … can in fact cause confusion in
the interpretation of the results. … the best clinical outcomes for fertility, while deletions of AZFa…