Essential Roles of Cohesin STAG2 in Mouse Embryonic Development and Adult Tissue Homeostasis by Magali De Koninck, Eleonora Lapi, Claudio Badía-Careaga, Itziar Cossío, Daniel Giménez-Llorente, Miriam Rodríguez-Corsino, Elena Andrada, Andrés Hidalgo, Miguel Manzanares, Francisco X. Real, Ana Losada

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

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Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child by Sok-Kun Tae, Sok-Kun Tae, Mazlan RA, Meow-Keong Thong, Meow-Keong Thong

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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopa... by Sorina Boiu, Nikolaos Paschalidis, George Sentis, Theodora Manolakou, Andrianos Nezos, Manolis Gialitakis, Maria Grigoriou, Erato Atsali, Melpomeni Giorgi, Argirios Ntinopoulos, Clio Mavragani, Periklis Makrythanasis, Dimitrios T. Boumpas, Aggelos Banos

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Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene by Anita Ferreira, Sofia M. Calado, Xavier Jorge, Job de Lange, Sara Carvalhal

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Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum by Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Maria-Patapia Zafeiriou, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Christiane M Neuhofer, Christiane M Neuhofer, Janine Altmüller, Janine Altmüller, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Wolfram Hubertus Zimmermann, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Gökhan Yigit, Bernd Wollnik, Bernd Wollnik, Bernd Wollnik

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Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report by Amna Iftikhar, Kathleen Barnes, Melissa Figueroa, Antonia P. Francis

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Spotlight on Warsaw Breakage Syndrome by Pisani FM

Subjects: “…cohesinopathies…”
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