Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing
作者: Yiran GuoLiang-Dar HwangJiankang LiJason EadesChung Wen YuCorrine MansfieldAlexis Burdick-WillXiao ChangYulan ChenFujiko F. DukeJianguo ZhangSteven FakharzadehPaul FennesseyBrendan J. KeatingHui JiangHakon HakonarsonDanielle R. ReedGeorge Preti
作者单位: 1Center for Applied Genomics, the Children’s Hospital of Philadelphia
2Monell Chemical Senses Center
3BGI-Shenzhen
4University of Pennsylvania
5University of Colorado Health Sciences Center
6Shenzhen Key Laboratory of Genomics
7The Guangdong Enterprise Key Laboratory of Human Disease Genomics
刊名: BMC Medical Genetics, 2017, Vol.18 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-017-0369-8
关键词: CholineWhole Exome SequencingSensory PanelBody OdorSort Intolerant From Tolerant
原始语种摘要: Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize TMA precursors like choline, patients often emit a characteristic odor because while TMAO is odorless, TMA has a fishy smell. The Monell Chemical Senses Center is a research institute with a program to evaluate people with odor complaints for TMAU.
全文获取路径: Springer Nature  (合作)
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来源刊物:
影响因子:2.536 (2012)

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关键词翻译
关键词翻译
  • 使生代谢变化 无气味的
  • trimethylamine 三甲胺
  • odorless 无气味的
  • metabolize 无气味的
  • whereby 借此
  • whole 全部的
  • function 函数
  • sequencing 排序
  • impaired 受损
  • people 民族
  • research