1. Repository of OAI
  2. ΑΠΟΘΕΤΗΡΙΟ "ΟΛΥΜΠΙΑΣ"
  3. Σχολή Επιστημών Υγείας
  4. Τμήμα Ιατρικής
  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
Ελληνικά   English  
Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/23570
Full metadata record
DC FieldValueLanguage
dc.contributor.authorBastepe, M.en
dc.contributor.authorFrohlich, L. F.en
dc.contributor.authorHendy, G. N.en
dc.contributor.authorIndridason, O. S.en
dc.contributor.authorJosse, R. G.en
dc.contributor.authorKoshiyama, H.en
dc.contributor.authorKorkko, J.en
dc.contributor.authorNakamoto, J. M.en
dc.contributor.authorRosenbloom, A. L.en
dc.contributor.authorSlyper, A. H.en
dc.contributor.authorSugimoto, T.en
dc.contributor.authorTsatsoulis, A.en
dc.contributor.authorCrawford, J. D.en
dc.contributor.authorJuppner, H.en
dc.date.accessioned2015-11-24T19:33:47Z-
dc.date.available2015-11-24T19:33:47Z-
dc.identifier.issn0021-9738-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/23570-
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectChilden
dc.subject*DNA Methylationen
dc.subjectExonsen
dc.subjectGTP-Binding Protein alpha Subunits, Gs/*geneticsen
dc.subject*Gene Deletionen
dc.subject*Genomic Imprintingen
dc.subjectHumansen
dc.subjectPedigreeen
dc.subjectPseudohypoparathyroidism/*geneticsen
dc.titleAutosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNASen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.primary10.1172/JCI19159-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/14561710-
heal.identifier.secondaryhttp://www.jci.org/articles/view/19159/files/pdf-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2003-
heal.abstractPatients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone (PTH) resistance, but lack physical features of Albright hereditary osteodystrophy. PHP-Ib is thus distinct from PHP-Ia, which is caused by mutations in the GNAS exons encoding the G protein alpha subunit. However, an imprinted autosomal dominant form of PHP-Ib (AD-PHP-Ib) has been mapped to a region of chromosome 20q13.3 containing GNAS. Furthermore, loss of methylation at a differentially methylated region (DMR) of this locus, exon A/B, has been observed thus far in all investigated sporadic PHP-Ib cases and the affected members of multiple AD-PHP-Ib kindreds. We now report that affected members and obligate gene carriers of 12 unrelated AD-PHP-Ib kindreds and four apparently sporadic PHP-Ib patients, but not healthy controls, have a heterozygous approximately 3-kb microdeletion located approximately 220 kb centromeric of GNAS exon A/B. The deleted region, which is flanked by two direct repeats, includes three exons of STX16, the gene encoding syntaxin-16, for which no evidence of imprinting could be found. Affected individuals carrying the microdeletion show loss of exon A/B methylation but no epigenetic abnormalities at other GNAS DMRs. We therefore postulate that this microdeletion disrupts a putative cis-acting element required for methylation at exon A/B, and that this genetic defect underlies the renal PTH resistance in AD-PHP-Ib.en
heal.journalNameJ Clin Investen
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ

Show simple item record
Files in This Item:
File Description SizeFormat 
Bastepe-2003-Autosomal dominant p.pdf875.42 kBAdobe PDFView/Open
Show simple item record  


This item is licensed under a Creative Commons License Creative Commons