293 related articles for article (PubMed ID: 27120001)
1. Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome.
Kawauchi S; Santos R; Muto A; Lopez-Burks ME; Schilling TF; Lander AD; Calof AL
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):138-45. PubMed ID: 27120001
[TBL] [Abstract][Full Text] [Related]
2. Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.
Muto A; Calof AL; Lander AD; Schilling TF
PLoS Biol; 2011 Oct; 9(10):e1001181. PubMed ID: 22039349
[TBL] [Abstract][Full Text] [Related]
3. Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome.
Lopez-Burks ME; Santos R; Kawauchi S; Calof AL; Lander AD
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):146-54. PubMed ID: 27120109
[TBL] [Abstract][Full Text] [Related]
4. The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.
Newkirk DA; Chen YY; Chien R; Zeng W; Biesinger J; Flowers E; Kawauchi S; Santos R; Calof AL; Lander AD; Xie X; Yokomori K
Clin Epigenetics; 2017; 9():89. PubMed ID: 28855971
[TBL] [Abstract][Full Text] [Related]
5. 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
PLoS Genet; 2009 Sep; 5(9):e1000650. PubMed ID: 19763162
[TBL] [Abstract][Full Text] [Related]
6. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
Kaur M; Mehta D; Noon SE; Deardorff MA; Zhang Z; Krantz ID
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):163-70. PubMed ID: 27125329
[TBL] [Abstract][Full Text] [Related]
7. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C; Gil-Rodríguez MC; Hernández-Marcos M; Teresa-Rodrigo ME; Vicente-Gabas A; Bernal ML; Casale CH; Bueno-Lozano G; Bueno-Martínez I; Queralt E; Villa O; Hernando-Davalillo C; Armengol L; Gómez-Puertas P; Puisac B; Selicorni A; Ramos FJ; Pié J
Eur J Med Genet; 2014 Sep; 57(9):503-9. PubMed ID: 24874887
[TBL] [Abstract][Full Text] [Related]
8. Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.
Wu Y; Gause M; Xu D; Misulovin Z; Schaaf CA; Mosarla RC; Mannino E; Shannon M; Jones E; Shi M; Chen WF; Katz OL; Sehgal A; Jongens TA; Krantz ID; Dorsett D
PLoS Genet; 2015 Nov; 11(11):e1005655. PubMed ID: 26544867
[TBL] [Abstract][Full Text] [Related]
9. 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
PLoS Genet; 2014 Sep; 10(9):e1004671. PubMed ID: 25255084
[TBL] [Abstract][Full Text] [Related]
10. Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.
Panarotto M; Davidson IF; Litos G; Schleiffer A; Peters JM
Proc Natl Acad Sci U S A; 2022 May; 119(18):e2201029119. PubMed ID: 35476527
[TBL] [Abstract][Full Text] [Related]
11. A cohesin-independent role for NIPBL at promoters provides insights in CdLS.
Zuin J; Franke V; van Ijcken WF; van der Sloot A; Krantz ID; van der Reijden MI; Nakato R; Lenhard B; Wendt KS
PLoS Genet; 2014 Feb; 10(2):e1004153. PubMed ID: 24550742
[TBL] [Abstract][Full Text] [Related]
12. Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.
Boudaoud I; Fournier É; Baguette A; Vallée M; Lamaze FC; Droit A; Bilodeau S
Genetics; 2017 Sep; 207(1):139-151. PubMed ID: 28679547
[TBL] [Abstract][Full Text] [Related]
13. Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.
Nolen LD; Boyle S; Ansari M; Pritchard E; Bickmore WA
Hum Mol Genet; 2013 Oct; 22(20):4180-93. PubMed ID: 23760082
[TBL] [Abstract][Full Text] [Related]
14. Characterization of limb differences in children with Cornelia de Lange Syndrome.
Mehta D; Vergano SA; Deardorff M; Aggarwal S; Barot A; Johnson DM; Miller NF; Noon SE; Kaur M; Jackson L; Krantz ID
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):155-62. PubMed ID: 27120260
[TBL] [Abstract][Full Text] [Related]
15. Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Pozojevic J; Parenti I; Graul-Neumann L; Ruiz Gil S; Watrin E; Wendt KS; Werner R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
Eur J Med Genet; 2018 Nov; 61(11):680-684. PubMed ID: 29155047
[TBL] [Abstract][Full Text] [Related]
16. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
Gervasini C; Parenti I; Picinelli C; Azzollini J; Masciadri M; Cereda A; Selicorni A; Russo S; Finelli P; Larizza L
Eur J Med Genet; 2013 Mar; 56(3):138-43. PubMed ID: 23313159
[TBL] [Abstract][Full Text] [Related]
17. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
Eur J Hum Genet; 2007 Feb; 15(2):143-9. PubMed ID: 17106445
[TBL] [Abstract][Full Text] [Related]
18. Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
Kline AD; Calof AL; Schaaf CA; Krantz ID; Jyonouchi S; Yokomori K; Gauze M; Carrico CS; Woodman J; Gerton JL; Vega H; Levin AV; Shirahige K; Champion M; Goodban MT; O'Connor JT; Pipan M; Horsfield J; Deardorff MA; Ishman SL; Dorsett D
Am J Med Genet A; 2014 Jun; 164A(6):1384-93. PubMed ID: 24504889
[TBL] [Abstract][Full Text] [Related]
19. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Krantz ID; McCallum J; DeScipio C; Kaur M; Gillis LA; Yaeger D; Jukofsky L; Wasserman N; Bottani A; Morris CA; Nowaczyk MJ; Toriello H; Bamshad MJ; Carey JC; Rappaport E; Kawauchi S; Lander AD; Calof AL; Li HH; Devoto M; Jackson LG
Nat Genet; 2004 Jun; 36(6):631-5. PubMed ID: 15146186
[TBL] [Abstract][Full Text] [Related]
20. Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance.
Gu W; Wang L; Gu R; Ouyang H; Bao B; Zheng L; Xu B
J Cell Physiol; 2021 Dec; 236(12):8208-8225. PubMed ID: 34170011
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]