Results 71 to 80 of about 2,646 (162)

Cooperative Roles of Pds5a and Pds5b Constrain Long‐Range Chromatin Interactions in Vertebrate Embryos

Development, Growth &Differentiation, Volume 68, Issue 3, April 2026.
ABSTRACT Three‐dimensional (3D) genome organization is dynamically restructured during early vertebrate development, yet how chromatin domains are established remains poorly understood. In particular, the contribution of individual cohesin regulators to this process during embryogenesis is unclear.
Shinra Ikeda, Hiroyuki Takeda, Ryohei Nakamura   +2 more
wiley   +1 more source

Structural maintenance of chromosome protein 1A exacerbates liver fibrosis by enhancing hepatic stellate cell activation and extracellular matrix synthesis via laminin subunit gamma 2 activation

Journal of Cell Communication and Signaling, Volume 20, Issue 1, March 2026.
Structural maintenance of chromosome protein 1A activates the PI3K/Akt signaling pathway by promoting laminin subunit gamma 2 transcription, which facilitates hepatic stellate cell activation and extracellular matrix deposition, leading to liver fibrosis progression.
Dandan Wang, Ning Li, Ranyan Gao, Jiaxin Wang, Lingyi Xu, Fengchun Li, Xinyu Geng, Ram Prasad Chaulagain, Babalola Deborah Oluwaseun, Xiaoyu Zhang, Shuang Jin, Shizhu Jin   +11 more
wiley   +1 more source

Nipbl regulates organ laterality and Kupffer's vesicle development in Zebrafish

Developmental Biology, 2011
Abstracts induced brain expression of lefty1 and cyclops (Long et al., Development 2003). In contrast to this model, when FGF signaling is inhibited, cyclops and lefty1 are bilaterally expressed in the brain even in the absence of southpaw. Two transcription factors, six3b and six7, are required for repression of asymmetric lefty1 expression in the ...
Muto, Akihiko, Calof, Anne, Schilling, Thomas, Lander, Arthur   +3 more
openaire   +3 more sources

Transcription factors form a ternary complex with NIPBL/MAU2 to localize cohesin at enhancers. [PDF]

Nucleic Acids Res
Abstract While the cohesin complex is a key player in genome architecture, how it localizes to specific chromatin sites is not understood. Recently, we and others have proposed that direct interactions with transcription factors lead to the localization of the cohesin-loader complex (NIPBL/MAU2) within enhancers. Here, we identify two
Fettweis G, Wagh K, Stavreva DA, Jiménez-Panizo A, Kim S, Lion M, Alegre-Martí A, Rinaldi L, Johnson TA, Gilson E, Krishnamurthy M, Wang L, Ball DA, Karpova TS, Upadhyaya A, Vertommen D, Recio JF, Estébanez-Perpiñá E, Dequiedt F, Hager GL.   +19 more
europepmc   +8 more sources

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

Frontiers in Neurology, 2018
Splicing pathogenic variants account for a notable fraction of NIPBL alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to overlooking of non-canonical intronic variants by traditional and contemporary sequencing ...
Maura Masciadri, Anna Ficcadenti, Donatella Milani, Francesca Cogliati, Maria Teresa Divizia, Lidia Larizza, Silvia Russo   +6 more
doaj   +1 more source

Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome

Orphanet Journal of Rare Diseases
Background Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome.
Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie D. Kline   +3 more
doaj   +1 more source

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review

Molecular Genetics & Genomic Medicine, 2020
Background Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity.
Chen Liu, Xiaoying Li, Jing Cui, Rui Dong, Yvqiang Lv, Dong Wang, Haiyan Zhang, Xiaomei Li, Zilong Li, Jian Ma, Yi Liu, Zhongtao Gai   +11 more
doaj   +1 more source

Elevated microRNA-187 causes cardiac endothelial dysplasia to promote congenital heart disease through inhibition of NIPBL

The Journal of Clinical Investigation
Cardiac endothelial cells are essential for heart development, and disruption of this process can lead to congenital heart disease (CHD). However, how microRNAs influence cardiac endothelial cells in CHD remains unclear.
Chao Li, Zizheng Tan, Hongdou Li, Xiaoying Yao, Chuyue Peng, Yue Qi, Bo Wu, Tongjin Zhao, Chentao Li, Jianfeng Shen, Hongyan Wang   +10 more
doaj   +1 more source

Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report

Children
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a distinctive facial appearance, growth/cognitive retardation, developmental delay, skeletal malformation, hypertrichosis, and other abnormalities. Patients with mild CdLS have
So Yoon Choi, Yoo-Rha Hong, Chi-Eun Oh, Jung Hyun Lee   +3 more
doaj   +1 more source

Roles of zebrafish Nipped-B-like (Nipbl) in gene regulation

Developmental Biology, 2009
Abstracts / Developmental Biology 331 (2009) 431–441 Prep1 (Pknox1) is a homeodomain transcription factor in theTALE superfamily and a critical regulator of hematopoiesis and organogenesis. Although Prep1 null mice die at gastrulation, we found that a genetic combination of a Prep1 null allele with a hypomorphic allele (Prep1 i/− ) rescues embryonic ...
Muto, Akihiko, Calof, Anne L, Schilling, Thomas F, Lander, Arthur D   +3 more
openaire   +3 more sources