|
Prader-Willi Syndrome
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus differentiates the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS.
|
17890436 |
2007 |
|
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus can differentiate the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS.
|
16574761 |
2006 |
|
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PWS and AS patients with imprinting mutation have microdeletions, which share a 4.3 kb short region of overlap (SRO) at the 5' end of the paternal SNURF-SNRPN gene in PWS, or on the maternal allele, which shares a 880 bp SRO located at the 35 kb upstream of the SNURF-SNRPN promoter in AS.
|
15744456 |
2005 |
|
Prader-Willi Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The human Prader-Willi syndrome (PWS) domain and its mouse orthologue include a cluster of paternally expressed genes which imprinted expression is co-ordinately regulated by an imprinting center (IC) closely associated to the Snurf-Snrpn gene.
|
15634360 |
2005 |
|
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Four protein-encoding genes (MKRN3, MAGEL2, NDN and SNURF-SNRPN) and several small nucleolar (sno) RNA genes (HBII-13, HBII-436, HBII-85, HBII-438A, HBII-438B and HBII-52) are expressed from the paternal chromosome only but their contribution to PWS is unclear.
|
15565282 |
2005 |
|
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In gene targeting studies of the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) domain in mouse ES cells, we recovered only recombinants with the paternal allele for constructs at exons 2 or 3 of the imprinted, maternally silenced Snurf-Snrpn gene.
|
14666508 |
2003 |
|
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To examine the chromatin basis of imprinting in chromosome 15q11-q13, we have investigated the status of histone acetylation of the SNURF-SNRPN locus, which is a key imprinted gene locus in Prader-Willi syndrome (PWS).
|
10775525 |
2000 |
|
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Indeed, based on the co-localization of SNURF and SNRPN within the imprinting control region critical to Prader-Willi syndrome, evolutionary arguments would suggest that this genetic locus is a prime candidate for mutations producing the failure-to-thrive phenotype of neonates with this syndrome and of corresponding mouse models.
|
10626556 |
1999 |
|
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.
|
8723064 |
1996 |
|
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene family that encode proteins involved in pre-mRNA splicing and maps to the smallest deletion region involved in the Prader-Willi syndrome (PWS) within chromosome 15q11-q13.
|
8571960 |
1996 |
|
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Small nuclear ribonucleoprotein polypeptide N (SNRPN) is the first expressed gene identified in the PWS critically deleted region.
|
7512861 |
1994 |
|
Prader-Willi Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
|
1303277 |
1992 |