000170096 001__ 170096
000170096 005__ 20260318155254.0
000170096 0247_ $$2doi$$a10.1210/jc.2012-1081
000170096 0248_ $$2sideral$$a148533
000170096 037__ $$aART-2012-148533
000170096 041__ $$aeng
000170096 100__ $$aPerez-Nanclares, Gustavo
000170096 245__ $$aDetection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at the GNAS Locus
000170096 260__ $$c2012
000170096 5203_ $$aContext: 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 locus not due to previously described deletions or to paternal uniparental disomy (UPD) of chromosome 20.
Results: We found that, in contrast to what has been described in growth disorders, multilocus hypomethylation is an uncommon event in PHP patients. We were also unable to identify any genetic alteration causative of the epigenetic defects in the currently known methylation regulatory genes.
Conclusion: Our work suggests that a trans-acting gene regulating the establishment or maintenance of imprinting at GNAS locus, if it exists, should be specific to PHP cases caused by epigenetic defects at GNAS.
000170096 540__ $$9info:eu-repo/semantics/closedAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000170096 590__ $$a6.43$$b2012
000170096 591__ $$aENDOCRINOLOGY & METABOLISM$$b13 / 122 = 0.107$$c2012$$dQ1$$eT1
000170096 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000170096 700__ $$aRomanelli, Valeria
000170096 700__ $$aMayo, Sonia
000170096 700__ $$aGarin, Intza
000170096 700__ $$aZazo, Celia
000170096 700__ $$aFernandez-Rebollo, Eduardo
000170096 700__ $$aMartínez, Francisco
000170096 700__ $$aLapunzina, Pablo
000170096 700__ $$aPérez de Nanclares, Guiomar
000170096 700__ $$0(orcid)0000-0003-2832-2266$$aLabarta Aizpún, José Ignacio$$uUniversidad de Zaragoza
000170096 7102_ $$11010$$2670$$aUniversidad de Zaragoza$$bDpto. Pediatría Radiol.Med.Fís$$cÁrea Pediatría
000170096 773__ $$g97, 6 (2012), E1060-E1067$$pJ. clin. endocrinol. metab.$$tJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM$$x0021-972X
000170096 8564_ $$s696830$$uhttps://zaguan.unizar.es/record/170096/files/texto_completo.pdf$$yVersión publicada
000170096 8564_ $$s2263209$$uhttps://zaguan.unizar.es/record/170096/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000170096 909CO $$ooai:zaguan.unizar.es:170096$$particulos$$pdriver
000170096 951__ $$a2026-03-18-13:52:12
000170096 980__ $$aARTICLE