{"title":"伴有多种垂体激素缺乏的HIST1H1E综合征。","authors":"Yuko Tanabe, Naohiro Nomura, Miki Minami, Junji Takaya, Nobuhiko Okamoto, Kumiko Yanagi, Tadashi Kaname, Yoshimitsu Fujii, Kazunari Kaneko","doi":"10.1297/cpe.2023-0002","DOIUrl":null,"url":null,"abstract":"● We report the first case of HIST1H1E syndrome with hyposecretion of several pituitary hormones. ● De novo frameshift H1-4 mutations (c.441dup: p. (Lys148Glnfs*48)) were detected. ● A mutation at the C-terminus of H1-4 may result in DNA CpG hypomethylation and in nonspecific enhancement of gene expression in the central nervous system","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/e7/cpe-32-195.PMC10288291.pdf","citationCount":"0","resultStr":"{\"title\":\"HIST1H1E syndrome with deficiency in multiple pituitary hormones.\",\"authors\":\"Yuko Tanabe, Naohiro Nomura, Miki Minami, Junji Takaya, Nobuhiko Okamoto, Kumiko Yanagi, Tadashi Kaname, Yoshimitsu Fujii, Kazunari Kaneko\",\"doi\":\"10.1297/cpe.2023-0002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"● We report the first case of HIST1H1E syndrome with hyposecretion of several pituitary hormones. ● De novo frameshift H1-4 mutations (c.441dup: p. (Lys148Glnfs*48)) were detected. ● A mutation at the C-terminus of H1-4 may result in DNA CpG hypomethylation and in nonspecific enhancement of gene expression in the central nervous system\",\"PeriodicalId\":10678,\"journal\":{\"name\":\"Clinical Pediatric Endocrinology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/e7/cpe-32-195.PMC10288291.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Pediatric Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1297/cpe.2023-0002\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Pediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1297/cpe.2023-0002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
HIST1H1E syndrome with deficiency in multiple pituitary hormones.
● We report the first case of HIST1H1E syndrome with hyposecretion of several pituitary hormones. ● De novo frameshift H1-4 mutations (c.441dup: p. (Lys148Glnfs*48)) were detected. ● A mutation at the C-terminus of H1-4 may result in DNA CpG hypomethylation and in nonspecific enhancement of gene expression in the central nervous system
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