Results 131 to 140 of about 2,646 (162)

Chromatin boundary permeability is controlled by CTCF conformational ensembles

Rudnizky S, Murray PJ, Sørensen EW, Koenig TJR, Pangeni S, Merino-Urteaga R, Chhabra H, Caccianini L, Davidson IF, Osorio-Valeriano M, Hook PW, Meneses P, Hao J, Zarb JS, Hatzakis NS, Timp W, Farnung L, Vos SM, Peters J, Aksimentiev A, Ha T.   +20 more
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Roles of NIPBL in Maintenance of Genome Stability

Seminars in Cell and Developmental Biology, 2019
A cohesin-loading factor (NIPBL) is one of important regulatory factors in the maintenance of 3D genome organization and function, by interacting with a large number of factors, e.g. cohesion, CCCTC-binding factor (CTCF) or cohesin complex component.
Xiangdong Wang, Xin Cao, Bijun Zhu
exaly   +3 more sources

NIPBL::NACC1 Fusion Hepatic Carcinoma

American Journal of Surgical Pathology, 2023
Several reports describing a rare primary liver tumor with histologic features reminiscent of follicular thyroid neoplasms have been published under a variety of descriptive terms including thyroid-like, solid tubulocystic, and cholangioblastic cholangiocarcinoma.
Erika, Hissong, Majd, Al Assaad, Munita, Bal, Katelyn A, Reed, Adele, Fornelli, Max F, Levine, Gunes, Gundem, Alissa, Semaan, Christine E, Orr, Uma, Sakhadeo, Jyothi, Manohar, Michael, Sigouros, David, Wilkes, Andrea, Sboner, Elizabeth A, Montgomery, Rondell P, Graham, Juan S, Medina-Martínez, Nicolas, Robine, Jiayun M, Fang, Eun-Young K, Choi, Maria, Westerhoff, Jesús, Delgado-de la Mora, Patricia, Caudell, Rhonda K, Yantiss, Elli, Papaemmanuil, Olivier, Elemento, Carlie, Sigel, José, Jessurun, Juan Miguel, Mosquera   +28 more
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Nipbl Interacts With Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration [PDF]

Neuron, 2017
Mutations in NIPBL are the most frequent cause of Cornelia de Lange syndrome (CdLS), a developmental disorder encompassing several neurological defects, including intellectual disability and seizures. How NIPBL mutations affect brain development is not understood.
Debbie van den Berg, Dick H W Dekkers, Roberta Azzarelli   +2 more
exaly   +4 more sources

Large Genomic Rearrangements in NIPBL Are Infrequent in Cornelia De Lange Syndrome [PDF]

European Journal of Human Genetics, 2007
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, malformations of the upper limbs, and delay in growth and development. Mutations in NIPBL are associated with CdLS in 27-56% of cases and have been reported as point mutations, small insertions and deletions in coding regions ...
Marcel M A M Mannens, Zahurul A Bhuiyan
exaly   +3 more sources

Cryo-EM structure of the human cohesin-NIPBL-DNA complex

Science, 2020
A blueprint to understand cohesin Cohesin is a multiprotein complex that entraps sister chromatids for chromosome segregation and regulates transcription by extruding DNA loops to shape DNA organization. Shi et al.
Zhubing Shi, Haishan Gao, Xiao-chen Bai, Hongtao Yu   +3 more
openaire   +2 more sources

DNA capture and loop extrusion dynamics by cohesin-NIPBL

2022
ABSTRACT 3D chromatin organization plays a critical role in regulating gene expression, DNA replication, recombination, and repair. While initially discovered for its role in sister chromatid cohesion, emerging evidence suggests that the cohesin complex (SMC1, SMC3, RAD21, and SA1/SA2), facilitated by NIPBL, mediates topologically ...
Parminder Kaur, Zhubing Shi, Xiaotong Lu, Hongshan Zhang, Ilya J. Finkelstein, Yizhi Jane Tao, Hongtao Yu, Hong Wang   +7 more
openaire   +1 more source

A Novel NIPBL-NACC1 Gene Fusion Is Characteristic of the Cholangioblastic Variant of Intrahepatic Cholangiocarcinoma

American Journal of Surgical Pathology, 2021
We report a novel NIPBL-NACC1 gene fusion in a rare primary hepatic neoplasm previously described as the “cholangioblastic variant of intrahepatic cholangiocarcinoma.” The 2 index cases were identified within our consultation files as morphologically distinctive primary hepatic neoplasms in a 24-year-old female and a 54-year-old male.
Pedram, Argani, Doreen N, Palsgrove, Robert A, Anders, Steven C, Smith, Carla, Saoud, Regina, Kwon, Lysandra, Voltaggio, Naziheh, Assarzadegan, Kiyoko, Oshima, Lisa, Rooper, Andres, Matoso, Lei, Zhang, Brandi L, Cantarel, Jeffrey, Gagan, Cristina R, Antonescu   +14 more
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Characterization of the NIPBL protein associated with Cornelia de Lange syndrome

2021
Cornelia de Lange Syndrome (CdLS) is a disorder that variably affects many physiologic features of the human body. These include but are not limited to deformed limbs, facial features and mental retardation. CdLS occurs in approximately 1 in 10,000 births. Of all CdLS cases, 50% have recently been associated with heterozygous mutation of the NIPBL gene.
Daniel K. Keter, Mark S. Lechner
openaire   +1 more source