Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.

American journal of human genetics - 1 Sept 2002

Gallagher Renata C, Pils Birgit, Albalwi Mohammed, Francke Uta

Abstract excerpt

Prior work has suggested that loss of expression of one or more of the many C/D box small nucleolar RNAs (snoRNAs) encoded within the complex, paternally expressed SNRPN (small nuclear ribonuclear protein N) locus may result in the phenotype of Prader-Willi syndrome (PWS). We suggest that the minimal critical region for PWS is approximately 121 kb within the >460-kb SNRPN locus, bordered by a breakpoint cluster...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Angelman Syndrome
Share to Chromosome Breakage
Share to Hybrid Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lymphocytes

Share to Organ Specificity

Share to Prader-Willi Syndrome

Share to RNA, Small Nucleolar

Share to Translocation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 12154412
DOI: 10.1086/342408
PMCID: PMC379204

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.PMID 12154412Read ↗

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.Semantic proximity Read ↗

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA clusterSemantic proximity Read ↗

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.Semantic proximity Read ↗

Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain.Semantic proximity Read ↗

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.Semantic proximity Read ↗

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.Semantic proximity Read ↗

Identifying key underlying regulatory networks and predicting targets of orphan C/D box <i>SNORD116</i> snoRNAs in Prader-Willi syndromeSemantic proximity Read ↗

Maternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice.Semantic proximity Read ↗

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.Semantic proximity Read ↗

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.Semantic proximity Read ↗

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3ASemantic proximity Read ↗

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.