Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements

K Krupina, A Goginashvili, DW Cleveland - Nature Reviews Genetics, 2024 - nature.com
Complex chromosome rearrangements, known as chromoanagenesis, are widespread in
cancer. Based on large-scale DNA sequencing of human tumours, the most frequent type of …

Molecular and cellular insights into the development of uterine fibroids

A Machado-Lopez, C Simón, A Mas - International journal of molecular …, 2021 - mdpi.com
Uterine leiomyomas represent the most common benign gynecologic tumor. These hormone-
dependent smooth-muscle formations occur with an estimated prevalence of~ 70% among …

Pathogenomics of uterine fibroids development

VS Baranov, NS Osinovskaya… - International journal of …, 2019 - mdpi.com
We review recent studies dealing with the molecular genetics and basic results of omics
analysis of uterine leiomyoma (LM)—a common benign muscle tumor of the uterus. Whole …

Engineered MED12 mutations drive leiomyoma-like transcriptional and metabolic programs by altering the 3D genome compartmentalization

K Buyukcelebi, X Chen, F Abdula, H Elkafas… - Nature …, 2023 - nature.com
Nearly 70% of Uterine fibroid (UF) tumors are driven by recurrent MED12 hotspot mutations.
Unfortunately, no cellular models could be generated because the mutant cells have lower …

On the complexity of mechanisms and consequences of chromothripsis: an update

AS Koltsova, AA Pendina, OA Efimova… - Frontiers in …, 2019 - frontiersin.org
In the present review, we focus on the phenomenon of chromothripsis, a new type of
complex chromosomal rearrangements. We discuss the challenges of chromothripsis …

A view on uterine leiomyoma genesis through the prism of genetic, epigenetic and cellular heterogeneity

AS Koltsova, OA Efimova, AA Pendina - International Journal of …, 2023 - mdpi.com
Uterine leiomyomas (ULs), frequent benign tumours of the female reproductive tract, are
associated with a range of symptoms and significant morbidity. Despite extensive research …

Cytogenomic profile of uterine leiomyoma: In vivo vs. in vitro comparison

AS Koltsova, OA Efimova, OV Malysheva… - Biomedicines, 2021 - mdpi.com
We performed a comparative cytogenomic analysis of cultured and uncultured uterine
leiomyoma (UL) samples. The experimental approach included karyotyping, aCGH …

Uterine leiomyomas with an apparently normal karyotype comprise minor heteroploid subpopulations differently represented in vivo and in vitro

AS Koltsova, OA Efimova, AA Pendina… - … and Genome Research, 2021 - karger.com
In the present study, we aimed to check whether uterine leiomyomas (ULs) with an
apparently normal karyotype in vitro comprise “hidden” cell subpopulations with numerical …

Several fusion genes identified in a spermatic cord leiomyoma with rearrangements of chromosome arms 3p and 21q

I Panagopoulos, L Gorunova… - Cancer Genomics & …, 2021 - cgp.iiarjournals.org
Background/Aim: Benign smooth-muscle tumors, leiomyomas, occur in nearly every organ
but are most common in the uterus. Whereas much is known about the genetics of uterine …

Successive Detection of Telomerase by IHC and Assessment of Telomere Length by Q-FISH in Paucicellular Cumulus Samples from Cumulus-Oocyte Complexes …

A Pendina, M Krapivin, I Mekina, I Aleksandrova… - OBM Genetics, 2022 - lidsen.com
This paper suggests an approach for the use of a single paucicellular histological sample to
investigate two characteristics indicative of the cell's functional potential: 1) the content of …