Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

By Ian D. Krantz, Jennifer McCallum, Cheryl Descipio, M. Kaur, L. Gillis, Dinah Yaeger, L. Jukofsky, N. Wasserman, A. Bottani, C. Morris and 11 more. Nature Genetics, 2004

723 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/3a412ec6223dfe729b59b4a8c0254f91cc380f83

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Citations in the corpus

Mediator and Cohesin Connect Gene Expression and Chromatin Architecture (2010, neutral): “Mutations in Nipbl are responsible for most cases of Cornelia de Lange syndrome, which is characterized by developmental defects and mental retardation and appears to be the result of mis-regulation of gene expression rather than chromosome cohesion or mitotic abnormalities 28 , 29 , 48 .”
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018, neutral): “Conversely, the isoforms of NIPBL, a gene associated with Cornelia de Lange syndrome (80), are downand up-regulated in ASD and SCZ, respectively (fig.”
Long-range control of gene expression: emerging mechanisms and disruption in disease. (2005, background): “Recently, the human homologue of Nipped-B, NIPBL, was identified as the gene mutated in individuals with Cornelia de Lange syndrome (CDLS [MIM 122470]) (Krantz et al. 2004; Tonkin et al. 2004).”
Cohesin: its roles and mechanisms. (2009, background): “half or more patients with Cornelia de Lange syndrome (CdLS) (20) have mutations in only one allele of the gene encoding human Scc2, known also as Nipbl due to its homology with the fly ortholog Nipped-B (85, 179).”
Control of Embryonic Stem Cell State (2011, background): “…for most cases of Cornelia de Lange syndrome, which is characterized by developmental defects and mental retardation and appears to be the result of misregulation of gene expression rather than chromosome cohesion or mitotic abnormalities (Krantz et al., 2004; Strachan, 2005; Tonkin et al., 2004).”
Cohesins functionally associate with CTCF on mammalian chromosome arms. (2008, background): “In humans, developmental abnormalities described as Cornelia de Lange syndrome are caused by heterozygous mutations in NIPBL and deletions or missense mutations in the Smc1 homolog SMC1L1 (Tonkin et al., 2004; Krantz et al., 2004; Strachan, 2005; Musio et al., 2006; Vega et al., 2005).”