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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW.

J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1.


Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Schüle B, Oviedo A, Johnston K, Pai S, Francke U.

Am J Hum Genet. 2005 Dec;77(6):1117-28. Epub 2005 Oct 31.


The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW.

Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14.


A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle.

Mönnich M, Kuriger Z, Print CG, Horsfield JA.

PLoS One. 2011;6(5):e20051. doi: 10.1371/journal.pone.0020051. Epub 2011 May 26.


Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.

Xu B, Lee KK, Zhang L, Gerton JL.

PLoS Genet. 2013;9(10):e1003857. doi: 10.1371/journal.pgen.1003857. Epub 2013 Oct 3.


The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2.

van der Lelij P, Godthelp BC, van Zon W, van Gosliga D, Oostra AB, Steltenpool J, de Groot J, Scheper RJ, Wolthuis RM, Waisfisz Q, Darroudi F, Joenje H, de Winter JP.

PLoS One. 2009 Sep 7;4(9):e6936. doi: 10.1371/journal.pone.0006936.


Esco2 promotes neuronal differentiation by repressing Notch signaling.

Leem YE, Choi HK, Jung SY, Kim BJ, Lee KY, Yoon K, Qin J, Kang JS, Kim ST.

Cell Signal. 2011 Nov;23(11):1876-84. doi: 10.1016/j.cellsig.2011.07.006. Epub 2011 Jul 14.


A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, Simone C, Guanti G.

J Cell Physiol. 2006 Oct;209(1):67-73.


Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes).

Morita A, Nakahira K, Hasegawa T, Uchida K, Taniguchi Y, Takeda S, Toyoda A, Sakaki Y, Shimada A, Takeda H, Yanagihara I.

Dev Growth Differ. 2012 Jun;54(5):588-604. doi: 10.1111/j.1440-169X.2012.01362.x.


The non-redundant function of cohesin acetyltransferase Esco2: some answers and new questions.

Whelan G, Kreidl E, Peters JM, Eichele G.

Nucleus. 2012 Jul 1;3(4):330-4. Epub 2012 May 22. Review.


The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF.

Am J Med Genet A. 2010 Feb;152A(2):472-8. doi: 10.1002/ajmg.a.33261.


Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H.

Nat Genet. 2005 May;37(5):468-70. Epub 2005 Apr 10.


Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.

Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshan K, Wieacker P.

Prenat Diagn. 2008 Jan;28(1):42-5. doi: 10.1002/pd.1904.


Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.


The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2.

Dogan M, Firinci F, Balci YI, Zeybek S, Ozgürler F, Erdogan I, Varan B, Semerci CN.

J Pak Med Assoc. 2014 Apr;64(4):457-60.


Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Temtamy SA, Ismail S, Helmy NA.

Genet Couns. 2006;17(1):1-13. Review.


Cohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatin.

Whelan G, Kreidl E, Wutz G, Egner A, Peters JM, Eichele G.

EMBO J. 2012 Jan 4;31(1):71-82. doi: 10.1038/emboj.2011.381. Epub 2011 Nov 18.


NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N.

Am J Hum Genet. 2003 Jan;72(1):132-43. Epub 2002 Dec 2.


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. Epub 2007 Jan 17.


The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH.

Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Review.

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