Background Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is
recognised as the most common known genetic cause of life-threatening obesity. This report …

Approximately 400 million people throughout the world suffer from a rare disease. Although
advances in whole exome and whole genome sequencing have greatly facilitated rare …

Chromosome 15 (C15) imprinting disorders including Prader–Willi (PWS), Angelman (AS)
and chromosome 15 duplication (Dup15q) syndromes are severe neurodevelopmental …

Background Detailed analysis of imprinting center (IC) defects in individuals with Prader–Willi
syndrome (PWS) is not readily available beyond chromosomal microarray (MA) analysis, …

Three siblings with Prader–Willi syndrome caused by imprinting center microdeletions and
review - Hartin - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library …

Background The C. elegans proteins PTP-3/LAR-RPTP and SDN-1/Syndecan are conserved
cell adhesion molecules. Loss-of-function (LOF) mutations in either ptp-3 or sdn-1 result in …

Clinical whole genome sequencing has enabled the discovery of potentially pathogenic
noncoding variants in the genomes of rare disease patients with a prior history of negative …

This study examined associations between body habitus and functions of aggression, in a
sample of 474 college students from the Midwestern region of the United States (age range = …

Heparan sulfate proteoglycans (HSPGs) are cell adhesion molecules that have been shown
to be involved in a myriad of different aspects of development such as embryogenesis, …

Syndecans are conserved cell-surface receptors that function in multiple developmental
contexts. We found that C. elegans with mutations in the single syndecan gene, sdn-1, exhibited …