Results 131 to 140 of about 5,189,630 (339)

TRsv: simultaneous detection of tandem repeat variations, structural variations, and short indels using long read sequencing data

Genome Biology
Tandem repeat copy number variations (TR-CNVs), structural variations (SVs), and short indels have been responsible for many diseases and traits, but no tools exist to distinguish and detect these variants.
Shunichi Kosugi, Chikashi Terao
doaj   +1 more source

Computational methods for analysing multiscale 3D genome organization

Nature reviews genetics, 2023
Yang Zhang, L. Boninsegna, Muyu Yang, Tom Misteli, Frank Alber, Jian-xing Ma   +5 more
semanticscholar   +1 more source

Super-enhancers in transcriptional regulation and genome organization

Nucleic Acids Research, 2019
Gene expression is precisely controlled in a stage and cell-type-specific manner, largely through the interaction between cis-regulatory elements and their associated trans-acting factors. Where these components aggregate in promoters and enhancers, they
Xi Wang, M. Cairns, Jian Yan
semanticscholar   +1 more source

EDNRB‐dependent endothelin signaling reduces proliferation and promotes proneural‐to‐mesenchymal transition in gliomas

Molecular Oncology, EarlyView.
Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau, Leonor Garcia, Hugo Arnold, Antonija Hanžek, Maialen Arrieta, Laurent R Gauthier, Christine Granotier‐Beckers, François D Boussin, Amaury Herbet, Marie Hautière, Valentin Asei‐Ceschino, Clémentin Jacques, Laura Brard, Thomas Harnois, Valérie Coronas, Bruno Constantin, Aurélien Chatelier, Jean Chemin, Serge Urbach, Martial Seveno, Szimonetta Hideg, Chantal Ripoll, Kasandra Aguilar‐Cázarez, Min Zheng, Guo‐Hao Huang, Sheng‐Qing Lv, Lei Zhang, Philippe Rondard, Laurent Prezeau, Jean‐Philippe Pin, Hugues Duffau, Luc Bauchet, Valérie Rigau, Franck Denat, Charles Truillet, Didier Boquet, Jean‐Philippe Hugnot   +36 more
wiley   +1 more source

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, EarlyView.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source

Comparative 3D genome organization in apicomplexan parasites

Proceedings of the National Academy of Sciences of the United States of America, 2019
Significance From yeast to human cells, genome organization in eukaryotes has a tight relationship with gene expression. We investigated the 3D organization of chromosomes in malaria parasites to identify possible connections between genome architecture ...
E. Bunnik, Aarthi Venkat, Jianlin Shao, K. McGovern, G. Batugedara, D. Worth, J. Prudhomme, S. Lapp, C. Andolina, Leila S Ross, Lauren Lawres, D. Brady, P. Sinnis, F. Nosten, D. Fidock, E. Wilson, R. Tewari, M. Galinski, C. Ben Mamoun, F. Ay, K. L. Le Roch   +20 more
semanticscholar   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Gene gating at nuclear pores prevents the formation of R loops

Molecular & Cellular Oncology, 2018
Transcription is an important source of genetic variability. A large amount of transcription-associated genome variation arises from the unscheduled formation of R loops.
Hélène Gaillard, Francisco García-Benítez, Andrés Aguilera   +2 more
doaj   +1 more source

Sci-Hi-C: a single-cell Hi-C method for mapping 3D genome organization in large number of single cells

bioRxiv, 2019
The highly dynamic nature of chromosome conformation and three-dimensional (3D) genome organization leads to cell-to-cell variability in chromatin interactions within a cell population, even if the cells of the population appear to be functionally ...
V. Ramani, Xinxian Deng, R. Qiu, Choli Lee, C. Disteche, William Stafford Noble, Z. Duan, J. Shendure   +7 more
semanticscholar   +1 more source