| NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer. | NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer.
Xu X, Wang D, Xu W, Li H, Chen N, Li N, Yao Q, Chen W, Zhong J, Mao W., Free PMC Article | 02/23/2024 |
| Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2. | Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2.
Alonso-Gil D, Cuadrado A, Giménez-Llorente D, Rodríguez-Corsino M, Losada A., Free PMC Article | 10/26/2023 |
| Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. | Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Fergelot P, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P, Nicolas G. | 12/17/2022 |
| uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. | uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Coursimault J, Rovelet-Lecrux A, Cassinari K, Brischoux-Boucher E, Saugier-Veber P, Goldenberg A, Lecoquierre F, Drouot N, Richard AC, Vera G, Coutant S, Quenez O, Rolain M, Bonnet C, Bronner M, Lecourtois M, Nicolas G. | 10/22/2022 |
| A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome. | A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome.
Chen Y, Chen Q, Yuan K, Zhu J, Fang Y, Yan Q, Wang C., Free PMC Article | 06/11/2022 |
| Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion. | Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.
Panarotto M, Davidson IF, Litos G, Schleiffer A, Peters JM., Free PMC Article | 05/14/2022 |
| Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment. | Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment.
Cummings CT, Rowley MJ., Free PMC Article | 04/30/2022 |
| The glucocorticoid receptor associates with the cohesin loader NIPBL to promote long-range gene regulation. | The glucocorticoid receptor associates with the cohesin loader NIPBL to promote long-range gene regulation.
Rinaldi L, Fettweis G, Kim S, Garcia DA, Fujiwara S, Johnson TA, Tettey TT, Ozbun L, Pegoraro G, Puglia M, Blagoev B, Upadhyaya A, Stavreva DA, Hager GL., Free PMC Article | 04/9/2022 |
| Cohesin mediates DNA loop extrusion by a ""swing and clamp"" mechanism. | Cohesin mediates DNA loop extrusion by a "swing and clamp" mechanism.
Bauer BW, Davidson IF, Canena D, Wutz G, Tang W, Litos G, Horn S, Hinterdorfer P, Peters JM., Free PMC Article | 01/8/2022 |
| MicroRNA-99b inhibits NSCLC cell invasion and migration by directly targeting NIPBL. | MicroRNA-99b inhibits NSCLC cell invasion and migration by directly targeting NIPBL.
Xu JX, Liu CM, Ma CP. | 01/8/2022 |
| Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. | Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J., Free PMC Article | 12/18/2021 |
| Nipped-B-like Protein Sensitizes Esophageal Squamous Cell Carcinoma Cells to Cisplatin via Upregulation of PUMA. | Nipped-B-like Protein Sensitizes Esophageal Squamous Cell Carcinoma Cells to Cisplatin via Upregulation of PUMA.
Zhang S, Zhou Y, Wang Q, Donahue K, Feng J, Yao Y, Chen A, Li X, Hong L., Free PMC Article | 11/6/2021 |
| Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome. | Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.
Garcia P, Fernandez-Hernandez R, Cuadrado A, Coca I, Gomez A, Maqueda M, Latorre-Pellicer A, Puisac B, Ramos FJ, Sandoval J, Esteller M, Mosquera JL, Rodriguez J, Pié J, Losada A, Queralt E., Free PMC Article | 08/7/2021 |
| Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect. | Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.
Olley G, Pradeepa MM, Grimes GR, Piquet S, Polo SE, FitzPatrick DR, Bickmore WA, Boumendil C., Free PMC Article | 06/19/2021 |
| Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin. | Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin.
Weiss FD, Calderon L, Wang YF, Georgieva R, Guo Y, Cvetesic N, Kaur M, Dharmalingam G, Krantz ID, Lenhard B, Fisher AG, Merkenschlager M., Free PMC Article | 06/19/2021 |
| MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome. | MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T, Gines MM, van Staveren T, van IJcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. | 05/22/2021 |
| Dysregulation of NIPBL leads to impaired RUNX1 expression and haematopoietic defects. | Dysregulation of NIPBL leads to impaired RUNX1 expression and haematopoietic defects.
Mazzola M, Pezzotta A, Fazio G, Rigamonti A, Bresciani E, Gaudenzi G, Pelleri MC, Saitta C, Ferrari L, Parma M, Fumagalli M, Biondi A, Cazzaniga G, Marozzi A, Pistocchi A., Free PMC Article | 05/1/2021 |
| A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort. | A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.
Li S, Miao H, Yang H, Wang L, Gong F, Chen S, Zhu H, Pan H., Free PMC Article | 03/27/2021 |
| Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. | Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Plesser Duvdevani M, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T., Free PMC Article | 01/16/2021 |
| De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome. | De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome.
Thanh DC, Ngoc CTB, Nguyen NL, Vu CD, Tung NV, Nguyen HH., Free PMC Article | 11/21/2020 |
| NIPBL and BRD4 cooperate in transcriptional regulation, which should contribute to explain the recently observed CdLS-like phenotype associated with BRD4 mutations. | The Cornelia de Lange Syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes.
Luna-Peláez N, March-Díaz R, Ceballos-Chávez M, Guerrero-Martínez JA, Grazioli P, García-Gutiérrez P, Vaccari T, Massa V, Reyes JC, García-Domínguez M., Free PMC Article | 08/12/2020 |
| he de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the severe type Cornelia de Lange syndrome in this patient | [Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].
Tang W, Wu R, Meng Z, Li X, Ouyang N, Liang L. | 06/27/2020 |
| The NIPBL movement among chromosomal loops regulates gene expression through dynamic alterations of genome organization. | Roles of NIPBL in maintenance of genome stability.
Gao D, Zhu B, Cao X, Zhang M, Wang X. | 04/18/2020 |
| these data suggest cohesin-mediated alleviation of Etv6 repression is required for dynamic expression at critical erythroid genes during differentiation and how this may be perturbed in myeloid malignancies. | Cohesin-dependent regulation of gene expression during differentiation is lost in cohesin-mutated myeloid malignancies.
Sasca D, Yun H, Giotopoulos G, Szybinski J, Evan T, Wilson NK, Gerstung M, Gallipoli P, Green AR, Hills R, Russell N, Osborne CS, Papaemmanuil E, Göttgens B, Campbell P, Huntly BJP., Free PMC Article | 04/4/2020 |
| Absolute copy numbers and dynamics of cohesin, CTCF, NIPBL, WAPL and sororin were measured by mass spectrometry, fluorescence-correlation spectroscopy and fluorescence recovery after photobleaching in HeLa cells. | Absolute quantification of cohesin, CTCF and their regulators in human cells.
Holzmann J, Politi AZ, Nagasaka K, Hantsche-Grininger M, Walther N, Koch B, Fuchs J, Dürnberger G, Tang W, Ladurner R, Stocsits RR, Busslinger GA, Novák B, Mechtler K, Davidson IF, Ellenberg J, Peters JM., Free PMC Article | 02/29/2020 |