• 제목/요약/키워드: 가톨릭대학교

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GNAS 메틸화 이상으로 인한 거짓부갑상선기능저하증 Ib 1예 (A Case of Pseudohypoparathyroidism Type Ib Caused by Aberrant Methylation in the GNAS Complex Locus)

  • 조성진;한은희;장우리;채효진;김용구;이건동;조원경;서병규;김명신
    • Laboratory Medicine Online
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    • 제7권2호
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    • pp.83-87
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    • 2017

  • Pseudohypoparathyroidism (PHP) is a rare disorder caused by genetic and epigenetic aberrations in the GNAS complex locus resulting in impaired expression of stimulatory G protein ($Gs{\alpha}$). PHP type Ib (PHP-Ib) is characterized by hypocalcemia and hyperphosphatemia due to renal resistance to the parathyroid hormone, and is distinguished from PHP-Ia by the absence of osteodystrophic features. An 11-yr-old boy presented with poor oral intake and cramping lower limb pain after physical activity. Laboratory studies revealed hypocalcemia, hyperphosphatemia, and increased parathyroid hormone levels. The GNAS complex locus was evaluated using the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay. Gain of methylation in the NESP55 domain and loss of methylation in the antisense (AS) transcript, XL, and A/B domains in the maternal allele were observed. Consequently, we present a case of PHP-Ib diagnosed using MS-MLPA.

  • https://doi.org/10.3343/lmo.2017.7.2.83 인용

Ozonides from the Ozonolyses of Indene

  • 이강렬;이치원;허태성
    • Bulletin of the Korean Chemical Society
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    • 제20권12호
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    • pp.1437-1440
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    • 1999

  • Ozonolysis reactions of indene 5 in the presence of carbonyl compounds 6 provided the corresponding indenemonoozonide 9 and cross-ozonides 10a-c and 11a-c. Further reactions of ozonides 10 and 11 with the independently prepared carbonyl oxide 13 gave diozonides of structure 14a-c and 15a-c.

  • https://doi.org/10.5012/bkcs.1999.20.12.1437 인용 PDF