Cohesin complexes with a potential to link mammalian meiosis to cancer.
Guangzhou, China. In Cell Regen (lond), 2012
The first reports characterizing the SMC1 and RAD21 genes, encoding subunits of cohesin, were published 20 years ago; however the exact molecular mechanics of cohesin molecular machine in vivo remains rather obscure notwithstanding ample elegant experiments.
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Philadelphia, United States. In Nature, 2012
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL for nearly 60% of individuals with classical CdLS, and by mutations in the core cohesin components SMC1A (~5%) and SMC3 (<1%) for a smaller fraction of probands.
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
Gießen, Germany. In Ophthalmic Genet, 2011
The Retinitis Pigmentosa GTPase Regulator (RPGR), which is located in the CC, participates in the IFT and interacts with a variety of proteins, including RPGRIP-1, CEP290, NPM, SMC1 and 3 and IFT88.
Cohesinopathies: One ring, many obligations.
Kansas City, United States. In Mutat Res, 2009
In the past 4 years, genetic studies of patients have revealed the primary genes involved in these disorders are the essential, evolutionarily conserved components of the cohesin pathway.
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Segrate, Italy. In Nat Genet, 2006
mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for Cornelia de Lange syndrome in three male members of an affected family and in one sporadic case
The ATM-dependent DNA damage signaling pathway.
Memphis, United States. In Cold Spring Harb Symp Quant Biol, 2004
The SMC1 protein appears to be a particularly important target of the ATM kinase, playing critical roles in controlling DNA replication forks and DNA repair after the damage.