477 related articles for article (PubMed ID: 19793304)
1. Cornelia de Lange syndrome, cohesin, and beyond.
Liu J; Krantz ID
Clin Genet; 2009 Oct; 76(4):303-14. PubMed ID: 19793304
[TBL] [Abstract][Full Text] [Related]
2. Cornelia de Lange syndrome.
Liu J; Baynam G
Adv Exp Med Biol; 2010; 685():111-23. PubMed ID: 20687500
[TBL] [Abstract][Full Text] [Related]
3. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
Revenkova E; Focarelli ML; Susani L; Paulis M; Bassi MT; Mannini L; Frattini A; Delia D; Krantz I; Vezzoni P; Jessberger R; Musio A
Hum Mol Genet; 2009 Feb; 18(3):418-27. PubMed ID: 18996922
[TBL] [Abstract][Full Text] [Related]
4. The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J; Van Vliet PP; Pucéat M; Andelfinger G
Cell Cycle; 2019 Nov; 18(21):2828-2848. PubMed ID: 31516082
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Deardorff MA; Bando M; Nakato R; Watrin E; Itoh T; Minamino M; Saitoh K; Komata M; Katou Y; Clark D; Cole KE; De Baere E; Decroos C; Di Donato N; Ernst S; Francey LJ; Gyftodimou Y; Hirashima K; Hullings M; Ishikawa Y; Jaulin C; Kaur M; Kiyono T; Lombardi PM; Magnaghi-Jaulin L; Mortier GR; Nozaki N; Petersen MB; Seimiya H; Siu VM; Suzuki Y; Takagaki K; Wilde JJ; Willems PJ; Prigent C; Gillessen-Kaesbach G; Christianson DW; Kaiser FJ; Jackson LG; Hirota T; Krantz ID; Shirahige K
Nature; 2012 Sep; 489(7415):313-7. PubMed ID: 22885700
[TBL] [Abstract][Full Text] [Related]
7. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC; Deardorff MA; Ansari M; Tan CA; Parenti I; Baquero-Montoya C; Ousager LB; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Marcos-Alcalde I; Wesselink JJ; Lusa-Bernal S; Bijlsma EK; Braunholz D; Bueno-Martinez I; Clark D; Cooper NS; Curry CJ; Fisher R; Fryer A; Ganesh J; Gervasini C; Gillessen-Kaesbach G; Guo Y; Hakonarson H; Hopkin RJ; Kaur M; Keating BJ; Kibaek M; Kinning E; Kleefstra T; Kline AD; Kuchinskaya E; Larizza L; Li YR; Liu X; Mariani M; Picker JD; Pié Á; Pozojevic J; Queralt E; Richer J; Roeder E; Sinha A; Scott RH; So J; Wusik KA; Wilson L; Zhang J; Gómez-Puertas P; Casale CH; Ström L; Selicorni A; Ramos FJ; Jackson LG; Krantz ID; Das S; Hennekam RC; Kaiser FJ; FitzPatrick DR; Pié J
Hum Mutat; 2015 Apr; 36(4):454-62. PubMed ID: 25655089
[TBL] [Abstract][Full Text] [Related]
8. Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.
Sarogni P; Pallotta MM; Musio A
J Med Genet; 2020 May; 57(5):289-295. PubMed ID: 31704779
[TBL] [Abstract][Full Text] [Related]
9. Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.
Gimigliano A; Mannini L; Bianchi L; Puglia M; Deardorff MA; Menga S; Krantz ID; Musio A; Bini L
J Proteome Res; 2012 Dec; 11(12):6111-23. PubMed ID: 23106691
[TBL] [Abstract][Full Text] [Related]
10. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA; Kaur M; Yaeger D; Rampuria A; Korolev S; Pie J; Gil-Rodríguez C; Arnedo M; Loeys B; Kline AD; Wilson M; Lillquist K; Siu V; Ramos FJ; Musio A; Jackson LS; Dorsett D; Krantz ID
Am J Hum Genet; 2007 Mar; 80(3):485-94. PubMed ID: 17273969
[TBL] [Abstract][Full Text] [Related]
11. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Pié J; Gil-Rodríguez MC; Ciero M; López-Viñas E; Ribate MP; Arnedo M; Deardorff MA; Puisac B; Legarreta J; de Karam JC; Rubio E; Bueno I; Baldellou A; Calvo MT; Casals N; Olivares JL; Losada A; Hegardt FG; Krantz ID; Gómez-Puertas P; Ramos FJ
Am J Med Genet A; 2010 Apr; 152A(4):924-9. PubMed ID: 20358602
[TBL] [Abstract][Full Text] [Related]
12. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L; Cucco F; Quarantotti V; Krantz ID; Musio A
Hum Mutat; 2013 Dec; 34(12):1589-96. PubMed ID: 24038889
[TBL] [Abstract][Full Text] [Related]
13. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B; Pehlivan D; Karaca E; Patel N; Charng WL; Gambin T; Gonzaga-Jauregui C; Sutton VR; Yesil G; Bozdogan ST; Tos T; Koparir A; Koparir E; Beck CR; Gu S; Aslan H; Yuregir OO; Al Rubeaan K; Alnaqeb D; Alshammari MJ; Bayram Y; Atik MM; Aydin H; Geckinli BB; Seven M; Ulucan H; Fenercioglu E; Ozen M; Jhangiani S; Muzny DM; Boerwinkle E; Tuysuz B; Alkuraya FS; Gibbs RA; Lupski JR
J Clin Invest; 2015 Feb; 125(2):636-51. PubMed ID: 25574841
[TBL] [Abstract][Full Text] [Related]
14. 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
Biochim Biophys Acta; 2013 Dec; 1832(12):2097-102. PubMed ID: 23920377
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
Ratajska M; Wierzba J; Pehlivan D; Xia Z; Brundage EK; Cheung SW; Stankiewicz P; Lupski JR; Limon J
Eur J Med Genet; 2010; 53(6):378-82. PubMed ID: 20727427
[TBL] [Abstract][Full Text] [Related]
17. Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
Liu J; Zhang Z; Bando M; Itoh T; Deardorff MA; Li JR; Clark D; Kaur M; Tatsuro K; Kline AD; Chang C; Vega H; Jackson LG; Spinner NB; Shirahige K; Krantz ID
Nucleic Acids Res; 2010 Sep; 38(17):5657-71. PubMed ID: 20448023
[TBL] [Abstract][Full Text] [Related]
18. Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
Liu J; Zhang Z; Bando M; Itoh T; Deardorff MA; Clark D; Kaur M; Tandy S; Kondoh T; Rappaport E; Spinner NB; Vega H; Jackson LG; Shirahige K; Krantz ID
PLoS Biol; 2009 May; 7(5):e1000119. PubMed ID: 19468298
[TBL] [Abstract][Full Text] [Related]
19. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
Mannini L; Liu J; Krantz ID; Musio A
Hum Mutat; 2010 Jan; 31(1):5-10. PubMed ID: 19842212
[TBL] [Abstract][Full Text] [Related]
20. 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
J Cell Physiol; 2016 Mar; 231(3):613-22. PubMed ID: 26206533
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
