Results 11 to 20 of about 2,646 (162)

NIPBL: a new player in myeloid cell differentiation

Haematologica, 2019
The nucleophosmin 1 gene (NPM1) is the most frequently mutated gene in acute myeloid leukemia. Notably, NPM1 mutations are always accompanied by additional mutations such as those in cohesin genes RAD21, SMC1A, SMC3, and STAG2 but not in the cohesin ...
Mara Mazzola, Gianluca Deflorian, Alex Pezzotta, Laura Ferrari, Grazia Fazio, Erica Bresciani, Claudia Saitta, Luca Ferrari, Monica Fumagalli, Matteo Parma, Federica Marasca, Beatrice Bodega, Paola Riva, Franco Cotelli, Andrea Biondi, Anna Marozzi, Gianni Cazzaniga, Anna Pistocchi   +17 more
doaj   +4 more sources

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.

PLoS Genetics, 2014
The cohesin complex is crucial for chromosome segregation during mitosis and has recently also been implicated in transcriptional regulation and chromatin architecture.
Jessica Zuin, Vedran Franke, Wilfred F J van Ijcken, Antoine van der Sloot, Ian D Krantz, Michael I J A van der Reijden, Ryuichiro Nakato, Boris Lenhard, Kerstin S Wendt   +8 more
doaj   +7 more sources

The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency. [PDF]

PLoS Biology, 2016
Congenital heart defects (CHDs) affect 2%-3% of newborns and remain challenging clinically. There is an ongoing project to elucidate the causes of CHDs, focusing primarily on genetics as dictated by the epidemiology.
Bruce D Gelb
doaj   +4 more sources

Nipbl and mediator cooperatively regulate gene expression to control limb development.

PLoS Genetics, 2014
Haploinsufficiency for Nipbl, a cohesin loading protein, causes Cornelia de Lange Syndrome (CdLS), the most common "cohesinopathy". It has been proposed that the effects of Nipbl-haploinsufficiency result from disruption of long-range communication ...
Akihiko Muto, Shingo Ikeda, Martha E Lopez-Burks, Yutaka Kikuchi, Anne L Calof, Arthur D Lander, Thomas F Schilling   +6 more
doaj   +5 more sources

Transcriptional dysregulation in NIPBL and cohesin mutant human cells. [PDF]

PLoS Biology, 2009
Cohesin regulates sister chromatid cohesion during the mitotic cell cycle with Nipped-B-Like (NIPBL) facilitating its loading and unloading. In addition to this canonical role, cohesin has also been demonstrated to play a critical role in regulation of ...
Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B Spinner, Hugo Vega, Laird G Jackson, Katsuhiko Shirahige, Ian D Krantz   +14 more
doaj   +4 more sources

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR [PDF]

Cell Reports, 2016
NIPBL, a cohesin loader, has been implicated in transcriptional control and genome organization. Mutations in NIPBL, cohesin, and its deacetylase HDAC8 result in Cornelia de Lange syndrome.
Kobe C. Yuen, Baoshan Xu, Ian D. Krantz, Jennifer L. Gerton   +3 more
doaj   +3 more sources

Co-depletion of NIPBL and WAPL balance cohesin activity to correct gene misexpression.

PLoS Genetics, 2022
The relationship between cohesin-mediated chromatin looping and gene expression remains unclear. NIPBL and WAPL are two opposing regulators of cohesin activity; depletion of either is associated with changes in both chromatin folding and transcription ...
Jennifer M Luppino, Andrew Field, Son C Nguyen, Daniel S Park, Parisha P Shah, Richard J Abdill, Yemin Lan, Rebecca Yunker, Rajan Jain, Karen Adelman, Eric F Joyce   +10 more
doaj   +3 more sources

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome [PDF]

Frontiers in Genetics, 2018
Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the cohesin complex.
Natalia Krawczynska, Natalia Krawczynska, Alina Kuzniacka, Alina Kuzniacka, Jolanta Wierzba, Jolanta Wierzba, Ilaria Parenti, Frank J. Kaiser, Bartosz Wasag, Bartosz Wasag   +9 more
doaj   +3 more sources

Transcription and Three-Dimensional Genome Organization: Cause, Consequence, or Coordination? [PDF]

Bioessays
Transcription and 3D genome organization influence each other across spatial scales. Large‐scale architecture provides a relatively stable framework, while transcription and shared architectural factors refine local chromatin loops and domain boundaries. Specific long‐range interactions between regulatory elements and distal anchors can override domain‐
Yang D, Lei EP.
europepmc   +2 more sources

NIPBL and cohesin: new take on a classic tale

Trends in Cell Biology, 2023
Cohesin folds the genome in dynamic chromatin loops and holds the sister chromatids together. NIPBLScc2 is currently considered the cohesin loader, a role that may need reevaluation. NIPBL activates the cohesin ATPase, which is required for topological entrapment of sister DNAs and to fuel DNA loop extrusion, but is not required for chromatin ...
Dácil Alonso-Gil, Ana Losada
openaire   +3 more sources