Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurological
disorders that map to human chromosome 15q11–q13 and involve perturbations of …

Recent studies have emphasized an important role for long non-coding RNAs (lncRNA) in
epigenetic regulation, development, and disease. Despite growing interest in lncRNAs, the …

Background Makorin RING zinc finger-2 (MKRN2) belongs to the makorin RING zinc finger
family and is a novel ubiquitin E3 ligase targeting the p65 subunit of NF-κB to negatively …

Paternally-inherited loss-of-function mutations in makorin ring finger protein 3 gene
(MKRN3) underlie central precocious puberty. To investigate the puberty-related mechanism …

Central precocious puberty (CPP) is attributed to the disorder of some trigger factors those
can activate the hypothalamic-pituitary-gonadal axis controlled by GnRH neurons. Many …

Background It has previously been shown that specific microdeletions and
microduplications, many of which also associated with cognitive impairment (CI), can …

Mammals are diploid organisms that inherit a complete chromosome set from each parent.
The vast majority of genes are equally expressed from both parental chromosomes …

Following analysis of sequenced genomes and transcriptome of many eukaryotes, it is
evident that virtually all protein-coding genes have already been discovered. These …

Central precocious puberty may be familial in about a quarter of the idiopathic cases.
However, little is known about the genetic causes responsible for the disorder. In this report …

The Prader-Willi syndrome (PWS)/Angelman syndrome (AS) region, on human chromosome
15q11-q13, exemplifies coordinate control of imprinted gene expression over a large …