作者
Gustavo Perez-Nanclares, Valeria Romanelli, Sonia Mayo, Intza Garin, Celia Zazo, Eduardo Fernandez-Rebollo, Francisco Martínez, Pablo Lapunzina, Guiomar Pérez De Nanclares, Spanish PHP Group
发表日期
2012/6/1
期刊
The Journal of Clinical Endocrinology & Metabolism
卷号
97
期号
6
页码范围
E1060-E1067
出版商
Oxford University Press
简介
Context
Genomic imprinting is the modification of the genome so that genes from only one (rather than two) of the parental alleles are expressed. The mechanism underlying imprinting is epigenetic, occurring via changes in DNA methylation and histone modifications rather than through alterations in the DNA sequence. To date, nine different imprinting disorders have been clinically and genetically identified and a considerable research effort has been focused on determining the cause of the corresponding methylation defects.
Objective
Our objective was to identify multilocus imprinting defects and characterize any mutations in trans-acting genes in patients with pseudohypoparathyroidism (PHP) caused by epigenetic alterations at GNAS locus.
Design
We have investigated multilocus imprinting defects in 22 PHP patients with aberrant methylation at the GNAS …
学术搜索中的文章
G Perez-Nanclares, V Romanelli, S Mayo, I Garin… - The Journal of Clinical Endocrinology & Metabolism, 2012