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 …

Prader-Willi syndrome (PWS) is a neurogenetic disorder that results from the absence of a
normal paternal contribution to the 15q11–13 region1–3. The clinical manifestations of PWS …

Genomic imprinting is a special form of epigenetic system that determines the parent-of-
origin-specific, or monoallelic, expression of a small number of genes, termed" imprinted" …

N-acetylglucosamine kinase (NAGK) has been identified as an anchor protein that facilitates
neurodevelopment with its non-canonical structural role. Similarly, small nuclear …

The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene, encoding the RNA-
associated SmN protein, duplications or deletions of which are strongly associated with …

Alternative splicing of pre‐m RNA, catalyzed by small nuclear ribonucleoproteins (sn RNP
s), plays an important role in proteome complexity and the modulation of cellular functions …

Prader-Willi syndrome (PWS) is caused by the loss of paternal gene expression from an
imprinted region on chromosome 15q11. 2-q13. 1, usually from a deletion of the 15q11-q13 …

Parent‐of‐origin‐specific deletions of proximal chromosome 15q cause either the Prader‐
Willi syndrome (paternal deletion) or the Angelman syndrome (maternal deletion), two …

Los síndromes de Prader-Willi (SPW) y de Angelman (SA) son dos síndromes de desarrollo
y conducta que ocurren con una frecuencia 1/15.000-20.000 recién nacidos. Resultan de la …

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two neurobehavioral
disorders resulting mainly from paternal deletion or maternal UPD of the 15q11-q13 …