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BRD4 Interacts With NIPBL and BRD4 Is Mutated in a Cornelia De Lange–Like Syndrome [PDF]
Nature Genetics, 2018 We found that the clinical phenotype associated with BRD4 haploinsufficiency overlapped with that of Cornelia de Lange syndrome (CdLS), which is most often caused by mutation of NIPBL. More typical CdLS was observed with a de novo BRD4 missense variant, which retained the ability to coimmunoprecipitate with NIPBL, but bound poorly to acetylated ...
James Rhodes +2 more
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Cholangioblastic Cholangiocarcinoma (NIPBL::NACC1 Cholangiocarcinoma)
American Journal of Surgical PathologyThe cholangioblastic variant of intrahepatic cholangiocarcinoma is a distinctive neoplasm that typically affects young women without underlying liver disease. Morphologically, it demonstrates solid, trabecular, and tubulocystic architecture, biphasic small cell-large cell cytology, and immunoreactivity for inhibin, neuroendocrine markers, and biliary ...
Pedram, Argani +11 more
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NIPBL’s role in building cohesion
Cohesin is integral to life through its ability to organise our duplicated DNA until it is segregated between two daughter cells. Equal segregation is ensured through a process called sister chromatid cohesion, which is essential to all eukaryotic life. The process of building sister chromatid cohesion, however, is not well understood.openaire +1 more source
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
European Journal of Medical Genetics, 2010Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital anomaly disorder characterized by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. Approximately 60-65% of the CdLS subjects have mutation in one of three cohesin proteins, a main regulator of cohesin-associated protein ...
Magdalena, Ratajska +8 more
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Malignant Bone‐Forming Neoplasm With
ABSTRACTConventional high‐grade osteosarcomas are characterized by aggressive radiologic features, cytologic pleomorphism, and complex genomics. However, rare examples of osteosarcomas remain challenging due to unusual histology, such as sclerosing or osteoblastoma‐like features, which may require molecular confirmation of their complex genetic ...
Nooshin K. Dashti +4 more
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Rôle de NIPBL dans le développement cardiaque
Le complexe cohésine est requis dans l’organisation 3D du génome qui contribue à réguler l’expression des gènes en modulant l’interaction entre les éléments de régulation tels que les promoteurs et les enhancers. Cette dynamique est notamment essentielle pour la régulation de l’expression des gènes clés de l’identité cellulaire. Le Syndrome de Corneliaopenaire +1 more source
Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion
Proceedings of the National Academy of Sciences of the United States of America, 2022Alexander Schleiffer +2 more
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Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening
International Journal of Molecular Sciences, 2023Gaëlle Odelin +2 more
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A Novel De Novo Variant in 5′ UTR of the NIPBL Associated With Cornelia De Lange Syndrome
Genes, 2022Ke Yuan, Jianfang Zhu, Chun Lin Wang
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A Series of 38 Novel Germline and Somatic Mutations of NIPBL in Cornelia De Lange Syndrome
Clinical Genetics, 2016Laurent Pasquier +2 more
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