SNRPN Antibody

1. The first study reporting an association between variability in the SNRPN gene and the risk of being obese. PMID: 28387446
2. we have confirmed that SNRPN methylation increases with age, which raises further questions regarding the role of SNRPN expression during the aging process. PMID: 26535694
3. the cases with partial loss of methylation in KCNQ1OT1 and SNRPN present clinical features different to those associated with the corresponding imprinting syndromes PMID: 26106604
4. Knockdown of SNRPN was demonstrated to significantly inhibit medulloblastoma cell growth and induce G2/M phase arrest in vitro. PMID: 25571951
5. Data indicate that Sm nuclear antigen SmD-specific clonotypic IgGs showed extensive V- region hypermutation. PMID: 25577500
6. indicate that SmN expression reduces the level of mature U2 snRNP, leading to alternative splicing PMID: 25238490
7. The methylation patterns of the promoters of MTHFR and SNRPN are associated with changes in sperm motility and morphology, which could lead to male infertility. PMID: 24365028
8. Human amniotic fluid mesenchymal stem cells contain a unique epigenetic signature during in vitro cell culture. H19 and KCNQ1OT1 possessed a substantial degree of hypermethylation status, and variable DNA methylation patterns of SNRPN was observed. PMID: 23040914
9. In the skeletal muscle of neonate pigs, both NECD and SNRPN were maternally imprinted, while UBE3A was not imprinted. PMID: 22711311
10. genetic association studies using 1,000 white subjects from Midwestern United States: Three copy number variations (CNV) in PWCR are associated with body fat mass, with a higher copy number (CN) associated with an increase of in body fat mass. PMID: 21233802
11. Differences between genetic subtypes were also statistically significant in Prader Willi syndrome PMID: 21227640
12. Variable methylation of the imprinted gene, SNRPN, supports a relationship between intracranial germ cell tumours and neural stem cells. PMID: 20582452
13. SNRPN gene is imprinted, with monoallelic expression from the paternal allele in fetal brain and heart, and in adult brain. PMID: 7512861
14. MEG3 and SNRPN genes are abnormally methylated in AML and MDS patients, and methylation of MEG3, but not SNRPN, confers worse overall prognosis. PMID: 19595458
15. Methylation imprints of the imprint control region of the SPRPN-gene were studied in gametes and preimplantation embryos. ametes PMID: 14500540
16. SMB and CD2BP2-GYF interact in the spliceosome PMID: 15105431
17. Identification of cis- and trans-acting regulatory elements within the endogenous SNRPN 5' region. PMID: 16116039
18. a possibly inactivating mutation in the SNRPN minimal promoter region was identified in Prader-Willi syndrome PMID: 17262171
19. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 18361419
20. A mouse model for Prader-Willi syndrome. Deletion of Snrpn gene and putative imprinting-centre is associated with absent expression of the imprinted genes Zfp127, Ndn and Ipw, and phenotypes similar to those found in Prader-Willi infants. PMID: 9590284

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HGNC: 11164

OMIM: 182279

KEGG: hsa:6638

STRING: 9606.ENSP00000306223

UniGene: Hs.564847