Results 81 to 90 of about 2,646 (162)

The Role of NIPBL in Cornelia de Lange Syndrome

, 2015
Cornelia de Lange Syndrome (CdLS) is a severe developmental disorder frequently associated with heterozygous loss-of-function NIPBL mutations. NIPBL loads cohesin onto chromatin. Cohesin mediates sister chromatid cohesion important for mitosis, but is also increasingly being recognized as a regulator of gene expression. In CdLS patient cells and animal
Newkirk, DA, Chen, YY, Flowers, E, Zeng, X, Kong, X, Yao, C, Ball, A, Kawauchi, S, Santos, R, Calof, AL, Lander, AD, Shi, Y, Xie, X, Yokomori, K   +13 more
openaire   +1 more source

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells

Cells
Cornelia de Lange syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder. Pathogenic variants in genes encoding the structural subunits and regulatory proteins of the cohesin complex (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are ...
Maddalena Di Nardo, Ian D. Krantz, Antonio Musio   +2 more
doaj   +1 more source

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Clinical Case Reports, 2017
Key Clinical Message Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations.
Elena Infante, Gorka Alkorta‐Aranburu, Areeg El‐Gharbawy   +2 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer

Communications Biology
It is urgent to identify novel early diagnostic markers and therapeutic targets for non-small-cell lung cancer (NSCLC), which accounts for 85% of lung cancer cases and has a 5-year survival rate of 4–17%.
Xiaoling Xu, Ding Wang, Weizhen Xu, Huihui Li, Ning Chen, Na Li, Qifeng Yao, Wei Chen, Jianxiang Zhong, Weimin Mao   +9 more
doaj   +1 more source

Molecular dynamics simulations of human cohesin subunits identify DNA binding sites and their potential roles in DNA loop extrusion.

PLoS Computational Biology
The SMC complex cohesin mediates interphase chromatin structural formation in eukaryotic cells through DNA loop extrusion. Here, we sought to investigate its mechanism using molecular dynamics simulations.
Chenyang Gu, Shoji Takada, Giovanni B Brandani, Tsuyoshi Terakawa   +3 more
doaj   +1 more source

A camouflaging mystery: solid-tubulocystic variant of intrahepatic cholangiocarcinoma

Human Pathology Reports
Cholangiocarcinoma is a rare and aggressive malignancy with a rising incidence in recent years. Known risk factors include cirrhosis, alcohol use, smoking history, family history of bile duct cancer, male gender, and hepatitis B and/or C.
Shannon Zhang, Nazmul Hasan, John Han, Gianna Kroening, Zeljka Jutric, Ali Afsari, Shirin Attarian, Jennifer Valerin   +7 more
doaj   +1 more source

NIPBL Gene [PDF]

, 2020
openaire   +1 more source

NIPBL wt Allele [PDF]

, 2020
openaire   +1 more source

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
identifier:oai:t2r2.star.titech.ac.jp ...
openaire   +3 more sources