Publications by authors named "Valentina Casà"

10Publications

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.

Authors:
Ilaria Parenti Farah Diab Sara Ruiz Gil Eskeatnaf Mulugeta Valentina Casa Riccardo Berutti Rutger W W Brouwer Valerie Dupé Juliane Eckhold Elisabeth Graf Beatriz Puisac Feliciano Ramos Thomas Schwarzmayr Macarena Moronta Gines Thomas van Staveren Wilfred F J van IJcken Tim M Strom Juan Pié Erwan Watrin Frank J Kaiser Kerstin S Wendt

Cell Rep 2020 05;31(7):107647

Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands. Electronic address:

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May 2020

Redundant and specific roles of cohesin STAG subunits in chromatin looping and transcriptional control.

Authors:
Valentina Casa Macarena Moronta Gines Eduardo Gade Gusmao Johan A Slotman Anne Zirkel Natasa Josipovic Edwin Oole Wilfred F J van IJcken Adriaan B Houtsmuller Argyris Papantonis Kerstin S Wendt

Genome Res 2020 04 6;30(4):515-527. Epub 2020 Apr 6.

Department of Cell Biology, Erasmus MC, 3015 GD Rotterdam, The Netherlands.

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April 2020

Cohesin complex-associated holoprosencephaly.

Authors:
Paul Kruszka Seth I Berger Valentina Casa Mike R Dekker Jenna Gaesser Karin Weiss Ariel F Martinez David R Murdock Raymond J Louie Eloise J Prijoles Angie W Lichty Oebele F Brouwer Evelien Zonneveld-Huijssoon Mark J Stephan Jacob Hogue Ping Hu Momoko Tanima-Nagai Joshua L Everson Chitra Prasad Anna Cereda Maria Iascone Allison Schreiber Vickie Zurcher Nicole Corsten-Janssen Luis Escobar Nancy J Clegg Mauricio R Delgado Omkar Hajirnis Meena Balasubramanian Hülya Kayserili Matthew Deardorff Raymond A Poot Kerstin S Wendt Robert J Lipinski Maximilian Muenke

Brain 2019 09;142(9):2631-2643

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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September 2019

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.

Authors:
Jessica Zuin Valentina Casa Jelena Pozojevic Petros Kolovos Mirjam C G N van den Hout Wilfred F J van Ijcken Ilaria Parenti Diana Braunholz Yorann Baron Erwan Watrin Frank J Kaiser Kerstin S Wendt

PLoS Genet 2017 12 20;13(12):e1007137. Epub 2017 Dec 20.

Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.

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December 2017

Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.

Authors:
Valentina Casa Valeria Runfola Stefano Micheloni Arif Aziz F Jeffrey Dilworth Davide Gabellini

Hum Mol Genet 2017 02;26(4):753-767

Gene Expression and Muscular Dystrophy Unit, Division of Regenerative Medicine, IRCCS San Raffaele Scientific Institute, Milan 20132, Italy.

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February 2017

Direct homo- and hetero-interactions of MeCP2 and MBD2.

Authors:
Annette Becker Lena Allmann Maria Hofstätter Valentina Casà Patrick Weber Anne Lehmkuhl Henry D Herce M Cristina Cardoso

PLoS One 2013 15;8(1):e53730. Epub 2013 Jan 15.

Department of Biology, Technische Universität Darmstadt, Darmstadt, Germany.

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June 2013

A repetitive elements perspective in Polycomb epigenetics.

Authors:
Valentina Casa Davide Gabellini

Front Genet 2012 8;3:199. Epub 2012 Oct 8.

Division of Regenerative Medicine, Stem Cells, and Gene Therapy, Dulbecco Telethon Institute and San Raffaele Scientific Institute Milano, Italy ; Università Vita-Salute San Raffaele Milano, Italy.

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October 2012

A novel molecular mechanism in human genetic disease: a DNA repeat-derived lncRNA.

Authors:
Daphne S Cabianca Valentina Casa Davide Gabellini

RNA Biol 2012 Oct 1;9(10):1211-7. Epub 2012 Oct 1.

Dulbecco Telethon Institute and Division of Regenerative Medicine, Stem cells, and Gene therapy, San Raffaele Scientific Institute, Milan, Italy.

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October 2012

A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy.

Authors:
Daphne S Cabianca Valentina Casa Beatrice Bodega Alexandros Xynos Enrico Ginelli Yujiro Tanaka Davide Gabellini

Cell 2012 May 26;149(4):819-31. Epub 2012 Apr 26.

Dulbecco Telethon Institute at San Raffaele Scientific Institute, Division of Regenerative Medicine, Stem Cells, and Gene Therapy, Milan, Italy.

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May 2012

Recognition of 5-hydroxymethylcytosine by the Uhrf1 SRA domain.

Authors:
Carina Frauer Thomas Hoffmann Sebastian Bultmann Valentina Casa M Cristina Cardoso Iris Antes Heinrich Leonhardt

PLoS One 2011 22;6(6):e21306. Epub 2011 Jun 22.

Department of Biology II, Ludwig Maximilians University Munich, Planegg-Martinsried, Germany.

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November 2011