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
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)
影响因子:2.536 (2012)

  • 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