| Gastrulation-stage gene expression in Nipbl[+/-] mouse embryos foreshadows the development of syndromic birth defects. | Gastrulation-stage gene expression in Nipbl(+/-) mouse embryos foreshadows the development of syndromic birth defects.
Chea S, Kreger J, Lopez-Burks ME, MacLean AL, Lander AD, Calof AL., Free PMC Article | 03/22/2024 |
| Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening. | Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening.
Boulet F, Odelin G, Harrington A, Moore-Morris T., Free PMC Article | 11/29/2023 |
| Depletion of Zfp609 or Nipbl from cortical neural progenitors in vivo is detrimental to neuronal migration. Zfp609 and Nipbl overlap at genomic binding sites independently of cohesin and regulate genes that control cortical neuron migration. | Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration.
van den Berg DLC, Azzarelli R, Oishi K, Martynoga B, Urbán N, Dekkers DHW, Demmers JA, Guillemot F., Free PMC Article | 07/29/2017 |
| Nipbl transgenic mice display large atrial septal defects. | Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.
Santos R, Kawauchi S, Jacobs RE, Lopez-Burks ME, Choi H, Wikenheiser J, Hallgrimsson B, Jamniczky HA, Fraser SE, Lander AD, Calof AL., Free PMC Article | 07/8/2017 |
| This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 mutations and PKR activation. | NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
Yuen KC, Xu B, Krantz ID, Gerton JL., Free PMC Article | 10/1/2016 |
| expression analysis of Smc1a and Nipbl in developing mouse embryos reveals a specific pattern in the hindbrain | CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.
Fazio G, Gaston-Massuet C, Bettini LR, Graziola F, Scagliotti V, Cereda A, Ferrari L, Mazzola M, Cazzaniga G, Giordano A, Cotelli F, Bellipanni G, Biondi A, Selicorni A, Pistocchi A, Massa V. | 03/26/2016 |
| Nipbl and mediator cooperatively regulate gene expression to control limb development. | Nipbl and mediator cooperatively regulate gene expression to control limb development.
Muto A, Ikeda S, Lopez-Burks ME, Kikuchi Y, Calof AL, Lander AD, Schilling TF., Free PMC Article | 07/25/2015 |
| Nipbl+/- mutants are growth-retarded and exhibit various skeletal and craniofacial malformations. | Neural crest cell-specific inactivation of Nipbl or Mau2 during mouse development results in a late onset of craniofacial defects.
Smith TG, Laval S, Chen F, Rock MJ, Strachan T, Peters H. | 02/21/2015 |
| In spermatocytes, Nipbl/Mau2 then relocalises to chromocenters, whereas in oocytes it remains bound to chromosomal axes throughout prophase to dictyate arrest. | Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase I.
Visnes T, Giordano F, Kuznetsova A, Suja JA, Lander AD, Calof AL, Ström L., Free PMC Article | 01/10/2015 |
| Reduction of Nipbl is associated with Cornelia de Lange Syndrome. | Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.
Remeseiro S, Cuadrado A, Kawauchi S, Calof AL, Lander AD, Losada A., Free PMC Article | 02/22/2014 |
| Mice heterozygous for a gene-trap mutation in Nipbl were produced and exhibited defects characteristic of Cornelia de Lange Syndrome. | Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.
Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, Nussenzweig A, Kitzes L, Yokomori K, Hallgrimsson B, Lander AD., Free PMC Article | 01/21/2010 |