Results 1 to 10 of about 2,646 (162)

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

PLoS Genetics, 2017
Cohesin is crucial for genome stability, cell division, transcription and chromatin organization. Its functions critically depend on NIPBL, the cohesin-loader protein that is found to be mutated in >60% of the cases of Cornelia de Lange syndrome (CdLS ...
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   +11 more
doaj   +4 more sources

Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2

Nature Communications, 2023
NIPBL is considered the cohesin loader. Here, the authors report that a drastic reduction of NIPBL levels reduces chromatin-bound cohesin-STAG2 genome wide while cohesin-STAG1 increases and can still be found at CTCF-bound sites but cannot form loops.
Dácil Alonso-Gil, Ana Cuadrado, Daniel Giménez-Llorente, Miriam Rodríguez-Corsino, Ana Losada   +4 more
doaj   +4 more sources

MAU2 And NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia De Lange Syndrome

Cell Reports, 2020
Summary: The NIPBL/MAU2 heterodimer loads cohesin onto chromatin. Mutations in NIPBL account for most cases of the rare developmental disorder Cornelia de Lange syndrome (CdLS).
Wilfred F J van IJcken, Elisabeth Graf, Erwan Watrin   +2 more
exaly   +3 more sources

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients

Frontiers in Genetics, 2021
Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the NIPBL gene accounts for nearly 60% of the cases.
Chengyuan Tang, Jialun Pang, Yingchun Luo   +2 more
exaly   +3 more sources

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype [PDF]

Nature Communications
The role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear.
Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy, Deniz Kanber, Jasmin Beygo, Jennifer Kerkhof, Laura Steenpaß, Elsa Leitão, Julia Woestefeld, Philip M. Boone, Emeline M. Kao, Lama Alabdi, Hesham M. Aldhalaan, Fowzan S. Alkuraya, Muneera J. Alshammari, Stylianos E. Antonarakis, Donald Basel, Kevin Cassinari, Laurana de Polli Cellin, Amanda R. Clause, Alexander Augusto de Lima Jorge, Andréa de Castro Leal, Stephan C. Collins, Benjamin Durand, Juliane Eckhold, Mais O. Hashem, Parul Jayakar, Arif O. Khan, Kohji Kato, Regina Kubica, Gholson J. Lyon, Elaine Marchi, Julie McCarrier, Lara K. Kimmig, Seiji Mizuno, Gael Nicolas, Yosuke Nishio, Tomoo Ogi, Juan Pié, Jordyn Prell, Beatriz Puisac, Feliciano J. Ramos, Emmanuelle Ranza, Claire Redin, Eric Rush, Shinji Saitoh, Hanan E. Shamseldin, Susan Starling, Esteban Astiazaran-Symonds, Sara H. Eltahir, Alma Kuechler, Bekim Sadikovic, Binnaz Yalcin, Kerstin S. Wendt, Frank J. Kaiser   +55 more
doaj   +2 more sources

Impaired cohesin loading disrupts pancreatic differentiation by Polycomb-driven chromatin rewiring and loop collapse [PDF]

Communications Biology
Cell differentiation is a complex process characterized by specific gene expression patterns regulated through enhancer-promoter interactions within the three-dimensional architecture of the nucleus.
Longtao Yu, Yayu Liu, Jie Zhang, Chaofan Huang, Huanyu Feng, XueXue Zhao, Shiyu Feng, Wenqian Gong, Xiaowen Lyu   +8 more
doaj   +2 more sources

Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome [PDF]

Frontiers in Genetics
BackgroundCornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder involving multi-system organs, causing physical and mental congenital malformation.
Xiao Ting Shao, Yu Xuan Dai, Yu Fang Zhao, Yu Hang Chen, Ling Jing Ying   +4 more
doaj   +2 more sources

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. [PDF]

PLoS Genetics, 2009
Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL gene.
Shimako Kawauchi, Anne L Calof, Rosaysela Santos, Martha E Lopez-Burks, Clint M Young, Michelle P Hoang, Abigail Chua, Taotao Lao, Mark S Lechner, Jeremy A Daniel, Andre Nussenzweig, Leonard Kitzes, Kyoko Yokomori, Benedikt Hallgrimsson, Arthur D Lander   +14 more
doaj   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)

Stem Cell Research, 2022
Cornelia de Lange syndrome (CdLS) is a multiple congenital anomalies syndrome caused by mutations in the cohesion complex. The mutations in NIPBL, one of cohesion regulatory proteins, are the most frequent cause of CdLS.
Hiroki Ura, Sumihito Togi, Yumiko Iwata, Mamoru Ozaki, Yo Niida   +4 more
doaj   +1 more source

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome

Frontiers in Genetics, 2022
Cornelia de Lange syndrome (CdLS) is an autosomal dominant or X-linked genetic disease with significant genetic heterogeneity. Variants of the NIPBL gene are responsible for CdLS in 60% of patients.
Meizhen Shi, Meizhen Shi, Yuying Liang, Bobo Xie, Bobo Xie, Xianda Wei, Xianda Wei, Haiyang Zheng, Haiyang Zheng, Chunrong Gui, Chunrong Gui, Rong Huang, Rong Huang, Xin Fan, Xin Fan, Chuan Li, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Shaoke Chen, Yujun Chen, Yujun Chen, Baoheng Gui, Baoheng Gui   +24 more
doaj   +1 more source