Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat.
Wilmington, United States. In Mol Hum Reprod, Jan 2016
Associated loci contain potentially functional minor alleles (0.25-0.36 in tested rat strains) including an exonic deletion in Syne2, a large intronic insertion in Ncoa4 (an AR coactivator) and potentially deleterious variants in Solh/Capn15, Ankrd28, and Hsd17b2.
Global loss of a nuclear lamina component, lamin A/C, and LINC complex components SUN1, SUN2, and nesprin-2 in breast cancer.
Suita, Japan. In Cancer Med, Oct 2015
Using immunohistology, we found that a nuclear lamina component, lamin A/C and all of the investigated LINC complex components, SUN1, SUN2, and nesprin-2, were downregulated in human breast cancer tissues.
Epigenetic Dysregulation in the Prefrontal Cortex of Suicide Completers.
Germany. In Cytogenet Genome Res, 2014
Although, in general, there was no significant overlap between different published data sets or between our top 1,000 DMRs and published data sets, our methylation screen strengthens a number of candidate genes (APLP2, BDNF, HTR1A, NUAK1, PHACTR3, MSMP, SLC6A4, SYN2, and SYNE2) and supports a role for epigenetics in the pathophysiology of suicide.
The LINC complex and human disease.
Greifswald, Germany. In Biochem Soc Trans, 2011
The LINC components emerin, lamin A/C, SUN1, SUN2, nesprin-1 and nesprin-2 interact with each other at the NE and also with other binding partners including actin filaments and B-type lamins.
Emery-Dreifuss muscular dystrophy.
Chicago, United States. In Handb Clin Neurol, 2010
Additional genes encoding nuclear membrane proteins such as SYNE1 and SYNE2 have also been implicated in EDMD, and in some cases their importance for cardiac and muscle function has been supported by animal modeling.