https://transhumanist.ru/index.php?action=history&feed=atom&title=STX16 2026-04-11T22:55:17Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=STX16&diff=4476&oldid=prev 2021-04-29T19:20:00Z

<p>Новая страница: «Syntaxin-16 (Syn16) ==Publications== {{medline-entry |title=Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyr...»</p> <p><b>Новая страница</b></p><div>Syntaxin-16 (Syn16)<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24127307<br /> |abstract=Pseudohypoparathyroidism (PHP) is defined as resistance toward parathyroid hormones. PHP and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations within or upstream of the [[[[[[[[GNAS]]]]]]]] locus. This study investigated the clinical characteristics and performed a molecular analysis of PHP and PPHP. A total of 12 patients with (P)PHP from 11 unrelated families (4 with PHP-Ia, 6 with PHP-Ib, and 2 with PPHP) were characterized using both clinical and molecular methods. Clinical features included the presenting symptoms, Albright hereditary osteodystrophy features, and resistance to hormones. Comprehensive analysis of the [[[[[[[[GNAS]]]]]]]] and [[STX16]] loci was undertaken to investigate the molecular defects underlying (P)PHP. All PHP-Ib patients displayed hypocalcemic symptoms. All PHP-Ia patients showed resistance toward TSH, in addition to [[PTH]]. In most patients with PHP, when the diagnosis of PHP was first established, hypocalcemia and hyperphosphatemia were associated with a significant increase in serum [[PTH]] levels. One patient with PHP-Ia was diagnosed with growth hormone deficiency and showed a good response to human recombinant growth hormone therapy. 6 patients with PHP-Ia and PPHP showed 5 different mutations in the [[[[[[[[GNAS]]]]]]]] gene. 5 patients with PHP-Ib displayed a loss of differentially methylated region (DMR) imprints of the maternal [[[[[[[[GNAS]]]]]]]]. One PHP-Ib patient showed a de novo microdeletion in [[STX16]] and a loss of methylation of exon A/B on the maternal allele. No patients revealed paternal disomy among 4 patients with PHP-Ib. Identification of the molecular causes of PHP and PPHP explains their distinctive clinical features and enables confirmation of the diagnosis and exact genetic counseling.<br /> |mesh-terms=* Adult<br /> * Aging<br /> * Asian Continental Ancestry Group<br /> * Child<br /> * Child, Preschool<br /> * Chromogranins<br /> * DNA<br /> * DNA Methylation<br /> * DNA Mutational Analysis<br /> * Exons<br /> * Female<br /> * GTP-Binding Protein alpha Subunits, Gs<br /> * Gene Deletion<br /> * Growth<br /> * Humans<br /> * Male<br /> * Microsatellite Repeats<br /> * Polymerase Chain Reaction<br /> * Pseudohypoparathyroidism<br /> * Pseudopseudohypoparathyroidism<br /> * Syntaxin 16<br /> <br /> |full-text-url=https://sci-hub.do/10.1055/s-0033-1349867<br /> }}</div>

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