|
Prader-Willi Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
High content screening of small molecule libraries using cells derived from transgenic mice carrying the SNRPN-EGFP fusion protein has discovered that inhibitors of EHMT2/G9a, a histone 3 lysine 9 methyltransferase, are capable of reactivating expression of paternally expressed SNRPN and SNORD116 from the maternal chromosome, both in cultured PWS patient-derived fibroblasts and in a PWS mouse model.
|
30904443 |
2019 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Methylation-specific PCR analysis of the SNRPN gene locus indicated that the PWS region of the paternal chromosome was deleted or methylated in iPS cells from the patient.
|
30902571 |
2019 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using a variety of techniques, the microdeletions were identified in regions within the complex SNRPN gene locus encompassing the PWS imprinting center.
|
29437285 |
2018 |
|
Prader-Willi Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
SNRPN, which codes for the RNA-binding SmN protein, is a candidate gene for Prader-Willi syndrome.
|
28387446 |
2017 |
|
Prader-Willi Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Since SNURF/SNRPN gene and the PWS-IC are known to regulate snoRNAs, it is likely that the PWS-like phenotype observed in patients with paternal SNURF/SNRPN deletion is due to the disrupted expression of SNORD116 snoRNAs.
|
28554868 |
2017 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100-200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region.
|
27659713 |
2016 |
|
Prader-Willi Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Finally, Nr4a1 may serve as a potential drug target for SNRPN-related neurodevelopmental disabilities, including Prader-Willi syndrome (PWS) and autism spectrum disorders (ASDs).
|
27430727 |
2016 |
|
Prader-Willi Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Methylation-specific multiplex ligation-dependant probe amplification (MS-MLPA) analysis showed hypermethylation of the SNRPN and NDN genes in the PWS/AS critical region of chromosome 15 in this patient.
|
24704109 |
2015 |
|
Prader-Willi Syndrome
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS.
|
24916642 |
2015 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Methylation sensitive PCR (MS-PCR) of the SNRPN locus, which assesses the presence of both the unmethylated (paternal) and the methylated (maternal) allele of 15q11.2-q13, is considered a sensitive reference technique for PWS diagnosis regardless of genetic subtype.
|
26109092 |
2015 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.
|
24311433 |
2014 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The PWS imprinting control region is the promoter for a one megabase paternal transcript encoding the ubiquitous protein-coding Snrpn gene and multiple neuron-specific noncoding RNAs, including the PWS-related Snord116 repetitive locus of small nucleolar RNAs and host genes, and the antisense transcript to AS-causing ubiquitin ligase encoding Ube3a (Ube3a-ATS).
|
23918391 |
2013 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our data reveal a broad range of epimutations exist in certain imprinting syndromes, with the exception of Prader-Willi syndrome and Angelman syndrome patients that are associated with solitary SNRPN-DMR defects.
|
23335487 |
2013 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Angelman/Prader-Willi syndrome (AS/PWS) domain contains at least 8 imprinted genes regulated by a bipartite imprinting center (IC) associated with the SNRPN gene.
|
23390487 |
2013 |
|
Prader-Willi Syndrome
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Our findings suggest that XCI spread into the paternal chromosome 15 led to the aberrant hypermethylation of SNRPN and OCA2 and their decreased expression, which contributes to the PWS-like features and hypo-pigmentation of the patient.
|
21735174 |
2012 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Prader-Willi syndrome/Angelman syndrome (PWS/AS) imprinted domain is regulated by a bipartite imprinting control center (IC) composed of a sequence around the SNRPN promoter (PWS-IC) and a 880-bp sequence located 35 kb upstream (AS-IC).
|
22529396 |
2012 |
|
Prader-Willi Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We describe a real-time methylation-sensitive PCR (Q-MSP) assay that quantifies methylation at the promoter of the differentially methylated SNRPN gene located within the PWS/ASCR.
|
22426236 |
2012 |
|
Prader-Willi Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genotyping of SNRPN was performed on blood samples of 20 individuals with Prader-Willi syndrome, 3 individuals with Angelman syndrome, and 20 unaffected individuals.
|
21889609 |
2011 |
|
Prader-Willi Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our laboratory uses a standard methylation-sensitive PCR (MSP) to target the differentially methylated SNRPN gene to test for Prader-Willi syndrome (PWS) and Angelman syndrome.
|
21227401 |
2011 |
|
Prader-Willi Syndrome
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
With our novel approach, we correctly diagnosed the imprinting disorders Prader-Willi syndrome and Angelman syndrome in 35 individuals by measuring methylation levels and copy numbers for the SNRPN (small nuclear ribonucleoprotein polypeptide N) promoter.
|
20472822 |
2010 |
|
Prader-Willi Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS.
|
18500341 |
2008 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As proof-of-principle applications, we established duplex assays to examine the FMR1 promoter in individuals with fragile-X syndrome and the SNRPN promoter in individuals with Prader-Willi syndrome or Angelman syndrome, and a multiplex assay to simultaneously detect hypermethylation of seven genes (ID4, APC, RASSF1A, CDH1, ESR1, HIN1 and TWIST1) in breast cancer cell lines and tissues.
|
17998253 |
2007 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Nine probands with a firm clinical diagnosis of PWS but who had neither a typical deletion in the PWS region nor UPD(15)mat were investigated for inactivating mutations in 11 genes located in the PWS region, including SNURF and SNRPN, which are associated with the imprinting centre.
|
17262171 |
2007 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Findings showed that 70% of those clinically diagnosed as PWS patients (14/20) had a deletion at 15q11-q13 according to FISH, while all 20 patients showed MSP positive of SNRPN gene.
|
17867985 |
2007 |
|
Prader-Willi Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MS-HRM is a simple, rapid, and robust method for screening methylation differences at the SNRPN locus and could be used as a diagnostic screen for PWS and AS.
|
17890436 |
2007 |