Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1969 1
1972 1
1974 1
1975 1
1976 1
1977 2
1978 2
1979 4
1980 1
1981 2
1982 6
1983 1
1984 2
1986 2
1987 3
1990 2
1991 3
1992 4
1993 1
1994 2
1995 2
1996 1
1997 1
1998 1
1999 1
2000 2
2001 1
2002 1
2003 2
2005 4
2006 1
2008 2
2009 3
2010 2
2011 1
2018 1
2019 1
2020 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

PubMed (OMIM) for id: 157570

69 results

Results by year

Filters applied: . Clear all
Page 1
Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR. Kantaputra PN, et al. Eur J Orthod. 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. Eur J Orthod. 2021. PMID: 32255174
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML. Bermejo-Sánchez E, et al. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):305-20. doi: 10.1002/ajmg.c.30320. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002800 Free PMC article. Review.
Cohesin acetylation speeds the replication fork.
Terret ME, Sherwood R, Rahman S, Qin J, Jallepalli PV. Terret ME, et al. Nature. 2009 Nov 12;462(7270):231-4. doi: 10.1038/nature08550. Nature. 2009. PMID: 19907496 Free PMC article.
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. Vega H, et al. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574259
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. Gordillo M, et al. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14. Hum Mol Genet. 2008. PMID: 18411254
69 results