ArticleClinical epigenetics2017
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.
Article in Clinical epigenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 46 citations in OpenAlex.
- Developmental Convergence Across Diverse Genetic Architectures in Childhood Apraxia of Speech.bioRxiv : the preprint server for biology · 2026Article
- A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in anBiomedical reports · 2025Article
- Non-Classic Cornelia de Lange Syndrome Due toChildren (Basel, Switzerland) · 2025Review
- Disruption of TAD hierarchy promotes LTR co-option in cancer.Nature genetics · 2025Article
- Cohesin in 3D: development, differentiation, and disease.Genes & development · 2025Review
- Co-essentiality analysis identifies PRR12 as a cohesin interacting protein and contributor to genomic integrity.Developmental cell · 2025Article
- Increasingly efficient chromatin binding of cohesin and CTCF supports chromatin architecture formation during zebrafish embryogenesis.Nature communications · 2025Article
- Malignant Bone-Forming Neoplasm With NIPBL::BEND2 Fusion.Genes, chromosomes & cancer · 2024Article
- Gastrulation-stage gene expression inScience advances · 2024Article
- BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.Development (Cambridge, England) · 2024Article
- Solid-Tubulocystic carcinoma: A new variant of intrahepatic cholangiocarcinoma.World journal of hepatology · 2023Review
- Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.Genes · 2023Article
- DNA double-strand break end synapsis by DNA loop extrusion.Nature communications · 2023Article
- Locus architecture and RAG scanning determine antibody diversity.Trends in immunology · 2023Review
- Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with NovelMolecular syndromology · 2023Article
- Mapping yield and yield-related traits using diverse common bean germplasm.Frontiers in genetics · 2023Article
- Genome-wide DNA methylation of the liver reveals delayed effects of early-life exposure to 17-α-ethinylestradiol in the self-fertilizing mangrove rivulus.Epigenetics · 2022Article
- Transcription Pause and Escape in Neurodevelopmental Disorders.Frontiers in neuroscience · 2022Review
- Paralogous synthetic lethality underlies genetic dependencies of the cancer-mutated geneLife science alliance · 2021Article
- Cohesin: behind dynamic genome topology and gene expression reprogramming.Trends in cell biology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundCornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of
resultsWe found a global decrease in cohesin binding, including at CCCTC-binding factor (CTCF) binding sites and repeat regions. Cohesin-bound genes were found to be enriched for histone H3 lysine 4 trimethylation (H3K4me3) at their promoters; were disproportionately downregulated in
conclusionsDecreased cohesin binding at the gene regions is directly linked to disease-specific expression changes. Taken together, our Nipbl haploinsufficiency model allows us to analyze the dosage effect of cohesin loading on CdLS development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.