Citations for
1CDLS, CDLS2, CDLS4, CDLS5, CDLSX, HDAC8, NIPBL, RAD21, SMC1A, SMC3
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.
Fazio G, Bettini LR, Rigamonti S, Meta D, Biondi A, Cazzaniga G, Selicorni A, Massa V.
Birth Defects Res 109(16):1268-1276. doi: 10.1002/bdr2.1070. Epub 2017 Jul 28. 2017
2RAD21, SMC1A, SMC3, STAG1, STAG2
Two-step ATP-driven opening of cohesin head.
Marcos-Alcalde Í, Mendieta-Moreno JI, Puisac B, Gil-Rodríguez MC, Hernández-Marcos M, Soler-Polo D, Ramos FJ, Ortega J, Pié J, Mendieta J, Gómez-Puertas P.
Sci Rep 7(1):3266. doi: 10.1038/s41598-017-03118-9. 2017
3EIEE85, SMC1A
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP
Epilepsia 28166369 2017
4EIEE85, SMC1A
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A
Lebrun N, Lebon S, Jeannet PY, Jacquemont S, Billuart P, Bienvenu T.
Am J Med Genet A. Dec;167A(12):3076-81. doi: 10.1002/ajmg.a.37364. Epub 2015 Sep 11. 2015
5CDLSX, SMC1A
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
Parenti I, Rovina D, Masciadri M, Cereda A, Azzollini J, Picinelli C, Limongelli G, Finelli P, Selicorni A, Russo S, Gervasini C, Larizza L.
Epigenetics 9(7). [Epub ahead of print] 2014
6CDLSX, SMC1A
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, Melis D, Aravena T, Doray B, Ferrarini A, Garavelli L, Selicorni A, Larizza L.
Am J Med Genet A 161A(11):2909-19. doi: 10.1002/ajmg.a.36252. Epub 2013 Oct 2. 2013
7RAD21, SMC1A, SMC3, STAG2
Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms.
Kon A, Shih LY, Minamino M, Sanada M, Shiraishi Y, Nagata Y, Yoshida K, Okuno Y, Bando M, Nakato R, Ishikawa S, Sato-Otsubo A, Nagae G, Nishimoto A, Haferlach C, Nowak D, Sato Y, Alpermann T, Nagasaki M, Shimamura T, Tanaka H, Chiba K, Yamamoto R, Yamaguchi T, Otsu M, Obara N, Sakata-Yanagimoto M, Nakamaki T, Ishiyama K, Nolte F, Hofmann WK, Miyawaki S, Chiba S, Mori H, Nakauchi H, Koeffler HP, Aburatani H, Haferlach T, Shirahige K, Miyano S, Ogawa S.
Nat Genet 45(10):1232-7. doi: 10.1038/ng.2731. Epub 2013 Aug 18. 2013
8SMC1A
The genomic landscape of cohesin-associated chromatin interactions.
DeMare LE, Leng J, Cotney J, Reilly SK, Yin J, Sarro R, Noonan JP.
Genome Res 23(8):1224-34. doi: 10.1101/gr.156570.113. Epub 2013 May 23. 2013
9SMC1a, SMC3
Imbalance of SMC1 and SMC3 cohesins causes specific and distinct effects.
Laugsch M, Seebach J, Schnittler H, Jessberger R.
PLoS One 8(6):e65149. doi: 10.1371/journal.pone.0065149. Print 2013. 2013
10RAD21, SMC1A, SMC3
Knocking down SMC1A inhibits growth and leads to G2/M arrest in human glioma cells.
Ma Z, Lin M, Li K, Fu Y, Liu X, Yang D, Zhao Y, Zheng J, Sun B.
Int J Clin Exp Pathol 6(5):862-9. Print 2013. 2013
11CDLS3, CDLSX, SMC1A, SMC3
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 11(12):6111-23. doi: 10.1021/pr300760p. Epub 2012 Nov 5. 2012
12SMC1A
Cohesin phosphorylation and mobility of SMC1 at ionizing radiation-induced DNA double-strand breaks in human cells.
Bauerschmidt C, Woodcock M, Stevens DL, Hill MA, Rothkamm K, Helleday T.
Exp Cell Res 317(3):330-7. Epub 2010 Nov 4. 2011
13ATR, CHEK1, FANCM, SMC1A, TOPBP1
ATR activation and replication fork restart are defective in FANCM-deficient cells.
Schwab RA, Blackford AN, Niedzwiedz W.
EMBO J 29(4):806-18. Epub 2010 Jan 7.PMID: 20057355 2010
14SMC1A
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 31(1):5-10. Review.PMID: 19842212 2010
15CDLS, CDLS2, CDLSX, NIPBL, SMC1A, SMC3
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 152A(4):924-9.PMID: 20358602 2010
16CDLS, CDLSX, NIPBL, SMC1A
Cornelia de Lange syndrome: extending the physical and psychological phenotype.
Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RC.
Am J Med Genet A 152A(5):1127-35. No abstract available. PMID: 20425817 2010
17RAD21, SMC1A, SMC3, STAG1
Cohesin: a regulator of genome integrity and gene expression.
Feeney KM, Wasson CW, Parish JL.
Biochem J 428(2):147-61. Review.PMID: 20462401 2010
18CDLS, CDLS2, CDLSX, NIPBL, SMC1A, SMC3
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.
Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA.
Am J Med Genet A 152A(7):1641-53.PMID: 20583156 2010
19CDLS2, CDLSX, SMC1A, SMC3
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 18(3):418-27. Epub 2008 Nov 7. 2009
20CDLS2, CDLSX, SMC1A, SMC3
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID.
Hum Mutat 30(11):1535-42.PMID: 19701948 2009
21SMC1A
Cohesin protein SMC1 is a centrosomal protein.
Guan J, Ekwurtzel E, Kvist U, Yuan L.
Biochem Biophys Res Commun 372(4):761-4. Epub 2008 Jun 2. 2008
22RAE1, SMC1A
Cohesin subunit SMC1 associates with mitotic microtubules at the spindle pole.
Wong RW, Blobel G.
Proc Natl Acad Sci U S A 105(40):15441-5. Epub 2008 Oct 1. 2008
23SMC3, SMC1A, CDLSX, CDLS2
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-Rodriguez 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 80(3):485-94. Epub 2007 Jan 17. 2007
24CDLSX, SMC1A
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L.
Nat Genet 38(5):528-30. Epub 2006 Apr 9. 2006
25SMC1A, SMC3
SMC1 involvement in fragile site expression.
Musio A, Montagna C, Mariani T, Tilenni M, Focarelli ML, Brait L, Indino E, Benedetti PA, Chessa L, Albertini A, Ried T, Vezzoni P.
Hum Mol Genet 14(4):525-33. Epub 2005 Jan 07. 2005
26ATR, SMC1A, RAD50, NBN
Rad50 depletion impacts upon ATR-dependent DNA damage responses.
Zhong H, Bryson A, Eckersdorff M, Ferguson DO.
Hum Mol Genet 14(18):2685-93. Epub 2005 Aug 8. 2005
27SMC1A, SMC3
Hinderin, a five-domains protein including coiled-coil motifs that binds to SMC3.
Patel CA, Ghiselli G.
BMC Cell Biol 6(1):3. 2005
28RPGR,SMC1A,SMC3
RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.
Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M, Wright AF, Margolis B, Williams DS, Swaroop A.
J Biol Chem 280(39):33580-7. Epub 2005 Jul 25. 2005
29SMC1A
Localization of human SMC1 protein at kinetochores.
Gregson HC, Van Hooser AA, Ball AR Jr, Brinkley BR, Yokomori K.
Chromosome Res 10(4):267-77. 2002
30SMC1A, SMC1B
Novel meiosis-specific isoform of mammalian SMC1.
Revenkova E, Eijpe M, Heyting C, Gross B, Jessberger R.
Mol Cell Biol 21(20):6984-98. 2001
31SMC1A, SMC2, SMC3, SMC4
Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics.
Schmiesing JA, Ball AR Jr, Gregson HC, Alderton JM, Zhou S, Yokomori K.
Proc Natl Acad Sci U S A 95(22):12906-11. 1998
32SMC1A
The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation.
Sultana R, Adler DA, Edelhoff S, Carrel L, Lee KH, Chapman VC, Willard HF, Disteche CM.
Hum Mol Genet 4 : 257-263. 1995
33DXS1008E, DXS1013E, DXS6672E, KDM5C, SMC1A
Three genes that escape X chromosome inactivation are clustered within a6 Mb YAC contig and STS map in Xp11.21-p11.22.
Miller AP, et al.
Hum Mol Genet 4 : 731-739. 1995
34SMC1A
The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.
Rocques PJ, Clark J, Ball S, Crew J, Gill S, Christodoulou Z, Borts RH, Louis EJ, Davies KE, Cooper CS.
Hum Mol Genet 4(2):243-9. 1995
35SMC1A
The DXS423E gene in Xp11.21 escapes X chromosome inactivation.
Brown CJ, Miller AP, Carrel L, Rupert JL, Davies KE, Willard HF.
Hum Mol Genet 4(2):251-5. 1995
36PGK1P1, TBC1D25, SMC1A
Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome.
Lafreniere RG, Brown CJ, Powers VE, Carrel L, Davies KE, Barker DF, Willard HF.
Genomics 11(2):352-63. 1991
37PGK1P1,TBC1D25, DXS422, SMC1A, DXS429
Assignment of DNA markers to the pericentrometric region of the human X chromosome.
Lafrenire RG, et al.
(HGM10) Cytogenet Cell Genet 51 : 1028. 1989