{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T22:47:03Z","timestamp":1761518823654},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,5,30]],"date-time":"2006-05-30T00:00:00Z","timestamp":1148947200000},"content-version":"vor","delay-in-days":59,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:p><jats:bold><jats:sc>Abstract:\u2002<\/jats:sc><\/jats:bold>  <jats:bold>The term <jats:italic>pseudohypoparathyroidism<\/jats:italic> (PHP) refers to the different disorders that are caused by mutations within <jats:italic>GNAS<\/jats:italic> or upstream of this complex genetic locus. <jats:italic>GNAS<\/jats:italic> gives rise to several different transcripts, including Gs\u03b1 (\u03b1\u2010subunit of heterotrimeric stimulatory G protein), XL\u03b1s (extra\u2010large variant of Gs\u03b1), and several additional sense and antisense transcripts. The complexity of the <jats:italic>GNAS<\/jats:italic> locus is furthermore reflected by a parent\u2010specific methylation pattern of most of its different promotors. PHP can be divided into two major groups, PHP type Ia (PHP\u2010Ia) and PHP type Ib (PHP\u2010Ib). PHP\u2010Ia is caused by heterozygous mutations affecting one of the 13 <jats:italic>GNAS<\/jats:italic> exons encoding Gs\u03b1 or by large intragenic deletions. In contrast, PHP\u2010Ib is caused by heterozygous deletions within <jats:italic>STX16,<\/jats:italic> the gene\u2010encoding syntaxin 16, which is located more than 220 kb upstream of <jats:italic>GNAS<\/jats:italic>, or by deletions within <jats:italic>GNAS<\/jats:italic> involving exon NESP55 and two of the antisense exons. In either form of PHP, hormonal resistance develops only after maternal inheritance of the mutation, while paternal inheritance of the same molecular defect is not associated with endocrine abnormalities. In most familial cases of PHP\u2010Ib, there is a loss of exon A\/B methylation combined with active A\/B transcription from both parental alleles, which leads to suppression of Gs\u03b1 transcription in the proximal renal tubules and, therefore, PTH resistance.<\/jats:bold> <\/jats:p>","DOI":"10.1196\/annals.1346.029","type":"journal-article","created":{"date-parts":[[2006,7,10]],"date-time":"2006-07-10T18:13:44Z","timestamp":1152555224000},"page":"250-255","source":"Crossref","is-referenced-by-count":15,"title":["Autosomal\u2010Dominant Pseudohypoparathyroidism Type Ib is Caused by Different Microdeletions Within or Upstream of the <i>GNAS<\/i> Locus"],"prefix":"10.1111","volume":"1068","author":[{"given":"HARALD","family":"J\u00dcPPNER","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AGN\u00c8S","family":"LINGLART","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LEOPOLD F.","family":"FR\u00d6HLICH","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MURAT","family":"BASTEPE","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,5,30]]},"reference":[{"key":"e_1_2_2_2_2","first-page":"922","article-title":"Pseudohypoparathyroidism\u2014an example of \u201cSeabright\u2010Bantam syndrome.\u201d","volume":"30","author":"Albright F.","year":"1942","journal-title":"Endocrinology"},{"key":"e_1_2_2_3_2","doi-asserted-by":"publisher","DOI":"10.1210\/er.22.5.675"},{"key":"e_1_2_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-012098651-4\/50053-5"},{"key":"e_1_2_2_5_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.10.4630"},{"key":"e_1_2_2_6_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.1.8133"},{"key":"e_1_2_2_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000083895"},{"key":"e_1_2_2_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa011262"},{"key":"e_1_2_2_9_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199005173222002"},{"key":"e_1_2_2_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.21.8287"},{"key":"e_1_2_2_11_2","first-page":"S494","article-title":"Mutational analysis of the GNAS1 gene in pseudohypoparathyroidism","volume":"11","author":"Dixon P.","year":"1996","journal-title":"J. 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