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Molecular basis of human enhanceropathies

Resultado final

ENHPATHY's website V2.

V3 of the ENHPATHY public website including ESRs profiles

V1 of the public website and launch of the STED programme

V2 of the ENHPATHYs public website with link to the password secured intranet Social media accounts set up First press release V1 a digital brochure to summarize all communication tools and actions Launch of STED programme

Supervisory Board of the network

Supervisory Board operational

All organisational boards operational

All organisational boards are operational

"Start of the #EnhancerInArt programme"

Contact local cultural organizations and build a list of partnering artists Design develop and content editing of the ENHPATHYs blog A digital brochure of the EnhancerInArt is sent to cultural organizations

Publicaciones

Targeted Chromosome Conformation Capture (HiCap)

Autores: Artemy Zhigulev & Pelin Sahlén
Publicado en: Methods in molecular biology, Edición 2532, 2022, Página(s) 75-94, ISSN 1940-6029
Editor: Humana Press
DOI: 10.1007/978-1-0716-2497-5_5

Restrictor synergizes with Symplekin and PNUTS to terminate extragenic transcription

Autores: Russo M., Piccolo V., Polizzese D., Prosperini E., Borriero C., Polletti S., Bedin F., Marenda M., Michieletto D., Mandana G.M., Rodighiero S., Cuomo A., Natoli G
Publicado en: Genes and Development, Edición Vol. 37 (21-24), 2023, Página(s) 1017-1040, ISSN 1549-5477
Editor: Cold Spring Harbor Laboratory Press
DOI: 10.1101/gad.351057.123

Chromatin modules and their implication in genomic organization and gene regulation

Autores: van Mierlo, G., Pushkarev, O., Kribelbauer, J. F., & Deplancke, B.
Publicado en: Trends in Genetics, Edición Volume 39, Edición 2, 2023, Página(s) 140-153, ISSN 0168-9525
Editor: Elsevier BV
DOI: 10.1016/j.tig.2022.11.003

Epromoters are new players in the regulatory landscape with potential pleiotropic roles

Autores: Juliette Malfait, Jing Wan, Salvatore Spicuglia
Publicado en: BioEssays : news and reviews in molecular, cellular and developmental biology, Edición Vol. 45 (10), 2023, Página(s) e2300012, ISSN 1521-1878
Editor: Wiley
DOI: 10.1002/bies.202300012

3D-GNOME 3.0: a three-dimensional genome modelling engine for analysing changes of promoter-enhancer contacts in the human genome

Autores: Michal Wlasnowolski, Michal Kadlof, Kaustav Sengupta, Dariusz Plewczynski
Publicado en: Nucleic Acids Research, Edición Vol. 51 (W1), 2023, Página(s) W5-W10, ISSN 1362-4962
Editor: Oxford University Press
DOI: 10.1093/nar/gkad354

Chronic inflammation promotes cancer progression as a second hit

Autores: Monika Burocziova, Srdjan Grusanovic, Karolina Vanickova, Sladjana Kosanovic, Meritxell Alberich-Jorda
Publicado en: Experimental Hematology, Edición 128, 2023, Página(s) 30–37, ISSN 1873-2399
Editor: Elsevier Science
DOI: 10.1016/j.exphem.2023.09.002

PartSeg: a tool for quantitative feature extraction from 3D microscopy images for dummies

Autores: Grzegorz Bokota, Jacek Sroka, Subhadip Basu, Nirmal Das, Pawel Trzaskoma, Yana Yushkevich, Agnieszka Grabowska, Adriana Magalska, Dariusz Plewczynski
Publicado en: BMC Bioinformatics, Edición 22(1), 2021, ISSN 1471-2105
Editor: BioMed Central
DOI: 10.1186/s12859-021-03984-1

Genomic Marks Associated with Chromatin Compartments in the CTCF, RNAPII Loop and Genomic Windows

Autores: Teresa Szczepińska, Ayatullah Faruk Mollah, Dariusz Plewczynski
Publicado en: International Journal of Molecular Sciences, Edición Vol. 22 (21), 2022, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms222111591

Enhancer mutations modulate the severity of chemotherapy-induced myelosuppression

Autores: Artemy Zhigulev, Zandra Norberg, Julie Cordier, Rapolas Spalinskas, Hassan Bassereh, Niclas Björn, Sailendra Pradhananga, Henrik Gréen, Pelin Sahlén
Publicado en: Life science alliance, Edición Vol. 7 (3), 2024, ISSN 2575-1077
Editor: Life science alliance
DOI: 10.26508/lsa.202302244

Interplay between CTCF boundaries and a super enhancer controls cohesin extrusion trajectories and gene expression.

Autores: E.S. Vos; Christian Valdes-Quezada; Yike Huang; Amin Allahyar; Marjon J.A.M. Verstegen; Anna-Karina Felder; Floor van der Vegt; Esther C.H. Uijttewaal; Peter H.L. Krijger; Wouter de Laat
Publicado en: Molecular Cell, Edición 81, 15, 2021, Página(s) 3082-3095, ISSN 1097-2765
Editor: Cell Press
DOI: 10.1016/j.molcel.2021.06.008

Prediction of chromatin looping using deep hybrid learning (DHL)

Autores: Mateusz Chiliński, Anup Kumar Halder, Dariusz Plewczynski
Publicado en: Quantitative Biology, Edición 11(2), 2023, Página(s) 155-162, ISSN 2095-4689
Editor: Higher Education Press
DOI: 10.15302/j-qb-022-0315

GRaNIE and GRaNPA: inference and evaluation of enhancer-mediated gene regulatory networks

Autores: Kamal, A.; Arnold, C.; Claringbould, A.; Moussa, R.; Servaas, N.H.; Kholmatov, M.; Daga, N.; Nogina, D.; Mueller-Dott, S.; Reyes-Palomares, A.; Palla, G.; Sigalova, O.; Bunina, D.; Pabst, C.; Zaugg, J.B.
Publicado en: Molecular Systems Biology, Edición 19: e11627, 2023, ISSN 1744-4292
Editor: Nature Publishing Group
DOI: 10.15252/msb.202311627

Hematopoietic stem cells undergo a lymphoid to myeloid switch in early stages of emergency granulopoiesis

Autores: Vanickova K, Milosevic M, Ribeiro Bas I, Burocziova M, Yokota A, Danek P, Grusanovic S, Chiliński M, Plewczynski D, Rohlena J, Hirai H, Rohlenova K, Alberich-Jorda M
Publicado en: EMBO Journal, Edición 42, 2023, Página(s) e113527, ISSN 1460-2075
Editor: Wiley Blackwell
DOI: 10.15252/embj.2023113527

Current challenges in understanding the role of enhancers in disease

Autores: Judith Barbara Zaugg; Pelin Sahlén; Robin Andersson; Meritxell Alberich-Jorda; Wouter de Laat; Bart Deplancke; Jorge Ferrer; Susanne Mandrup; Gioacchino Natoli; Dariusz Plewczynski; Alvaro Rada-Iglesias; Salvatore Spicuglia
Publicado en: Nature Structural & Molecular Biology, Edición 29, 2022, Página(s) 1148–1158 (2022), ISSN 1545-9985
Editor: Springer Nature
DOI: 10.1038/s41594-022-00896-3

Protocol to study sufficiency of cis-regulatory elements in mouse embryonic stem cells using a CRISPR-mediated knockin approach

Autores: Tomas Pachano; Alvaro Rada-Iglesias
Publicado en: STAR Protocols, 2022, Página(s) 3(3): 101492, ISSN 2666-1667
Editor: Elsevier
DOI: 10.1016/j.xpro.2022.101492

From DNA human sequence to the chromatin higher order organisation and its biological meaning: Using biomolecular interaction networks to understand the influence of structural variation on spatial genome organisation and its functional effect.

Autores: Mateusz Chiliński, Kaustav Sengupta, Dariusz Plewczynski
Publicado en: Seminars in cell & developmental biology, Edición Vol. 121, 2022, Página(s) 171-185, ISSN 1096-3634
Editor: Academic Press
DOI: 10.1016/j.semcdb.2021.08.007

The interaction between enhancer variants and environmental factors as an overlooked aetiological paradigm in human complex disease

Autores: Sarah Robert, Alvaro Rada-Iglesias
Publicado en: BioEssays : news and reviews in molecular, cellular and developmental biology, Edición Vol. 45 (10), 2023, Página(s) e2300038, ISSN 1521-1878
Editor: Wiley
DOI: 10.1002/bies.202300038

Multi-scale phase separation by explosive percolation with single-chromatin loop resolution

Autores: Kaustav Sengupta, Michał Denkiewicz, Mateusz Chiliński, Teresa Szczepińska, Ayatullah Faruk Mollah, Sevastianos Korsak, Raissa D'Souza, Yijun Ruan, Dariusz Plewczynski
Publicado en: Computational and structural biotechnology journal, Edición 20, 2022, Página(s) 3591-3603, ISSN 2001-0370
Editor: Elsevier
DOI: 10.1016/j.csbj.2022.06.063

Building regulatory landscapes reveals that an enhancer can recruit cohesin to create contact domains, engage CTCF sites and activate distant genes

Autores: Niels J. Rinzema, Konstantinos Sofiadis, Sjoerd J. D. Tjalsma, Marjon J. A. M. Verstegen, Yuva Oz, Christian Valdes-Quezada, Anna-Karina Felder, Teodora Filipovska, Stefan van der Elst, Zaria de Andrade dos Ramos, Ruiqi Han, Peter H. L. Krijger & Wouter de Laat
Publicado en: Nature Structural Molecular Biology, Edición 29, 2022, Página(s) 563–574, ISSN 1545-9993
Editor: Nature Publishing Group
DOI: 10.1038/s41594-022-00787-7

Chronic inflammation decreases HSC fitness by activating the druggable Jak/Stat3 signaling pathway

Autores: Grusanovic S, Danek P, Kuzmina M, Adamcova MK, Burocziova M, Mikyskova R, Vanickova K, Kosanovic S, Pokorna J, Reinis M, Brdicka T, Alberich-Jorda M
Publicado en: EMBO reports, Edición 24 (1), 2022, Página(s) e54729, ISSN 1469-3178
Editor: Wiley Blackwell
DOI: 10.15252/embr.202254729

The dynamic role of cohesin in maintaining human genome architecture

Autores: Agarwal A; Korsak S; Choudhury A; Plewczynski D;
Publicado en: BioEssays : news and reviews in molecular, cellular and developmental biology, Edición Vol. 45 (10), 2023, Página(s) e2200240, ISSN 1521-1878
Editor: Wiley
DOI: 10.1002/bies.202200240

Changes in PRC1 activity during interphase modulate lineage transition in pluripotent cells

Autores: Helena G. Asenjo; María Alcazar-Fabra; Mencía Espinosa-Martínez; Lourdes Lopez-Onieva; Amador Gallardo; Emilia Dimitrova; Angelika Feldmann; Tomas Pachano; Jordi Martorell-Marugán; Pedro Carmona-Sáez; Antonio Sanchez-Pozo; Álvaro Rada-Iglesias; Robert J. Klose; David Landeira
Publicado en: Nature Communications, Edición 4, 2023, Página(s) 180, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-023-35859-9

Enhanced performance of gene expression predictive models with protein-mediated spatial chromatin interactions

Autores: Mateusz Chiliński, Jakub Lipiński, Abhishek Agarwal, Yijun Ruan & Dariusz Plewczynski
Publicado en: Scientific Reports, Edición 13(1), 2023, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-023-38865-5

Enhancer-gene specificity in development and disease

Autores: Tomás Pachano; Endika Haro; Alvaro Rada-Iglesias
Publicado en: Development, Edición 149 (11), 2022, ISSN 1477-9129
Editor: The Company of Biologists
DOI: 10.1242/dev.186536

cudaMMC: GPU-enhanced multiscale Monte Carlo chromatin 3D modelling.

Autores: Michal Wlasnowolski, Pawel Grabowski, Damian Roszczyk, Krzysztof Kaczmarski, Dariusz Plewczynski
Publicado en: Bioinformatics, Edición Volume 39, Edición 10, 2023, ISSN 1367-4811
Editor: Oxford University Press
DOI: 10.1093/bioinformatics/btad588

ConsensuSV—from the whole-genome sequencing data to the complete variant list

Autores: Mateusz Chiliński, Dariusz Plewczynski
Publicado en: Bioinformatics, Edición Volume 38, Edición 24, 2022, Página(s) 5440-5442, ISSN 1367-4811
Editor: Oxford University Press
DOI: 10.1093/bioinformatics/btac709

Super-resolution visualization of chromatin loop folding in human lymphoblastoid cells using interferometric photoactivated localization microscopy

Autores: Zofia Parteka-Tojek, Jacqueline Jufen Zhu, Byoungkoo Lee, Karolina Jodkowska, Ping Wang, Jesse Aaron, Teng-Leong Chew, Krzysztof Banecki, Dariusz Plewczynski, Yijun Ruan
Publicado en: Scientific Reports, Edición 12(1), 2022, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-022-12568-9

POSTRE: a tool to predict the pathological effects of human structural variants

Autores: Víctor Sánchez-Gaya; Álvaro Rada-Iglesias
Publicado en: Nucleic Acids Research, Edición 51(9): e54, 2023, ISSN 0305-1048
Editor: Oxford University Press
DOI: 10.1093/nar/gkad225

Transcription factors: Bridge between cell signaling and gene regulation

Autores: Paula Weidemüller, Maksim Kholmatov, Evangelia Petsalaki, Judith B Zaugg
Publicado en: PROTEOMICS, 2021, Página(s) 2021 Dec;21(23-24):e2000034, ISSN 1615-9853
Editor: John Wiley & Sons Ltd.
DOI: 10.1002/pmic.202000034

Epromoters function as a hub to recruit key transcription factors required for the inflammatory response

Autores: Santiago-Algarra D, Souaid C, Singh H, Dao LTM, Hussain S, Medina-Rivera A, Ramirez-Navarro L, Castro-Mondragon JA, Sadouni N, Charbonnier G, Spicuglia S
Publicado en: Nature Communications, 2021, Página(s) 18;12(1):6660, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-021-26861-0

Interplay between regulatory elements and chromatin topology in cellular lineage determination

Autores: V. Shukla, A. Cetnarowska, M. Hyldahl, S. Mandrup
Publicado en: Trends in genetics, Edición 38 (10), 2022, Página(s) 1048-1061, ISSN 0168-9525
Editor: Elsevier BV
DOI: 10.1016/j.tig.2022.05.011

Context transcription factors establish cooperative environments and mediate enhancer communication

Autores: Kribelbauer, J. F., Pushkarev, O., Gardeux, V., Russeil, J., van Mierlo, G., & Deplancke, B.
Publicado en: bioRxiv, 2023, ISSN 1552-2466
Editor: Cold Spring Harbor Laboratory
DOI: 10.1101/2023.05.05.539543

Non-coding variants impact cis-regulatory coordination in a cell type-specific manner

Autores: Pushkarev, O., van Mierlo, G., Kribelbauer, J. F., Saelens, W., Gardeux, V., & Deplancke, B.
Publicado en: bioRxiv, 2023, ISSN 1552-2466
Editor: Cold Spring Harbor Laboratory
DOI: 10.1101/2023.10.11.561870

ccLoopER: Deep Prediction of CTCF and cohesin Mediated Chromatin looping Using DNA Transformer Model

Autores: Anup Kumar Halder, Abhishek Agarwal, Sevastianos Korsak, Karolina Jodkowska & Dariusz Plewczynski
Publicado en: Pattern Recognition and Machine Intelligence, Edición LNCS,volume 14301, 2023, ISBN 978-3-031-45169-0
Editor: Springer Nature
DOI: 10.1007/978-3-031-45170-6_91

The role of rare enhancer variants in bicuspid aortic valve pathology

Autores: A. Zhigulev, K. Lång, S. Pradhananga, R. Spalinskas, A. Franco-Cereceda, H. Björck, P. Eriksson, P. Sahlén
Publicado en: Atherosclerosis, Edición 355, 2022, ISSN 0021-9150
Editor: Elsevier BV
DOI: 10.1016/j.atherosclerosis.2022.06.194

Development Of A Versatile And Low-Cost Droplet Microfluidic Platform For Single-Nuclei Atac-Sequencing

Autores: Robert Baber, Mahsan Banijamali, Pontus Höjer, Afshin Ahmadian, and Aurélie Vigne
Publicado en: Proceedings of the 25th International Conference on Miniaturized Systems for Chemistry and Life Sciences, MicroTAS 2021, 2021, Página(s) 1767-1768
Editor: Chemical and Biological Microsystems Society

Consensus-Based Identification and Comparative Analysis of Structural Variants and Their Influence on 3D Genome Structure Using Long- and Short-Read Sequencing Technologies in Polish Families

Autores: Mateusz Chiliński, Sachin Gadakh, Kaustav Sengupta, Karolina Jodkowska, Natalia Zawrotna, Jan Gawor, Michal Pietal & Dariusz Plewczynski
Publicado en: Edición 404, 2022, Página(s) 41–49
Editor: Springer
DOI: 10.1007/978-981-19-0105-8_5

Understanding enhancer function to understand human disease.

Autores: Salvatore Spicuglia, Alvaro Rada-Iglesias
Publicado en: BioEssays : news and reviews in molecular, cellular and developmental biology, Edición Vol. 45 (10), 2023, Página(s) e2300149, ISSN 1521-1878
Editor: Wiley
DOI: 10.1002/bies.202300149

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