422 related articles for article (PubMed ID: 22039349)
21. 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]
22. Zebrafish as a Model to Study Cohesin and Cohesinopathies.
Muto A; Schilling TF
Methods Mol Biol; 2017; 1515():177-196. PubMed ID: 27797080
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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
Cell Death Dis; 2019 Jul; 10(8):548. PubMed ID: 31320616
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
Kuzniacka A; Wierzba J; Ratajska M; Lipska BS; Koczkowska M; Malinowska M; Limon J
J Appl Genet; 2013 Feb; 54(1):27-33. PubMed ID: 23254390
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
Kline AD; Calof AL; Lander AD; Gerton JL; Krantz ID; Dorsett D; Deardorff MA; Blagowidow N; Yokomori K; Shirahige K; Santos R; Woodman J; Megee PC; O'Connor JT; Egense A; Noon S; Belote M; Goodban MT; Hansen BD; Timmons JG; Musio A; Ishman SL; Bryan Y; Wu Y; Bettini LR; Mehta D; Zakari M; Mills JA; Srivastava S; Haaland RE
Am J Med Genet A; 2015 Jun; 167(6):1179-92. PubMed ID: 25899772
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M; Blair J; Devkota B; Fortunato S; Clark D; Lawrence A; Kim J; Do W; Semeo B; Katz O; Mehta D; Yamamoto N; Schindler E; Al Rawi Z; Wallace N; Wilde JJ; McCallum J; Liu J; Xu D; Jackson M; Rentas S; Tayoun AA; Zhe Z; Abdul-Rahman O; Allen B; Angula MA; Anyane-Yeboa K; Argente J; Arn PH; Armstrong L; Basel-Salmon L; Baynam G; Bird LM; Bruegger D; Ch'ng GS; Chitayat D; Clark R; Cox GF; Dave U; DeBaere E; Field M; Graham JM; Gripp KW; Greenstein R; Gupta N; Heidenreich R; Hoffman J; Hopkin RJ; Jones KL; Jones MC; Kariminejad A; Kogan J; Lace B; Leroy J; Lynch SA; McDonald M; Meagher K; Mendelsohn N; Micule I; Moeschler J; Nampoothiri S; Ohashi K; Powell CM; Ramanathan S; Raskin S; Roeder E; Rio M; Rope AF; Sangha K; Scheuerle AE; Schneider A; Shalev S; Siu V; Smith R; Stevens C; Tkemaladze T; Toimie J; Toriello H; Turner A; Wheeler PG; White SM; Young T; Loomes KM; Pipan M; Harrington AT; Zackai E; Rajagopalan R; Conlin L; Deardorff MA; McEldrew D; Pie J; Ramos F; Musio A; Kline AD; Izumi K; Raible SE; Krantz ID
Am J Med Genet A; 2023 Aug; 191(8):2113-2131. PubMed ID: 37377026
[TBL] [Abstract][Full Text] [Related]
34. L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.
Xu B; Sowa N; Cardenas ME; Gerton JL
Hum Mol Genet; 2015 Mar; 24(6):1540-55. PubMed ID: 25378554
[TBL] [Abstract][Full Text] [Related]
35. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Russo S; Masciadri M; Gervasini C; Azzollini J; Cereda A; Zampino G; Haas O; Scarano G; Di Rocco M; Finelli P; Tenconi R; Selicorni A; Larizza L
Eur J Hum Genet; 2012 Jul; 20(7):734-41. PubMed ID: 22353942
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.
Mannini L; C Lamaze F; Cucco F; Amato C; Quarantotti V; Rizzo IM; Krantz ID; Bilodeau S; Musio A
Sci Rep; 2015 Nov; 5():16803. PubMed ID: 26581180
[TBL] [Abstract][Full Text] [Related]
38. Gastrulation-stage gene expression in
Chea S; Kreger J; Lopez-Burks ME; MacLean AL; Lander AD; Calof AL
Sci Adv; 2024 Mar; 10(12):eadl4239. PubMed ID: 38507484
[TBL] [Abstract][Full Text] [Related]
39. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Pehlivan D; Hullings M; Carvalho CM; Gonzaga-Jauregui CG; Loy E; Jackson LG; Krantz ID; Deardorff MA; Lupski JR
Genet Med; 2012 Mar; 14(3):313-22. PubMed ID: 22241092
[TBL] [Abstract][Full Text] [Related]
40. NIPBL
Mills JA; Herrera PS; Kaur M; Leo L; McEldrew D; Tintos-Hernandez JA; Rajagopalan R; Gagne A; Zhang Z; Ortiz-Gonzalez XR; Krantz ID
Sci Rep; 2018 Jan; 8(1):1056. PubMed ID: 29348408
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
