Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria
نویسندگان
چکیده
منابع مشابه
Analysis of six novel flavin-containing monooxygenase 3 (FMO3) gene variants found in a Japanese population suffering from trimethylaminuria
Polymorphic human flavin-containing monooxygenase 3 (FMO3) is associated with the inherited disorder trimethylaminuria. Several FMO3 variants have been observed in a variety of ethnic groups, including a Japanese cohort suffering from trimethylaminuria. The aim of this study was to screen another self-reported Japanese trimethylaminuria cohort for novel FMO3 variants and to investigate these ne...
متن کاملFunctional evaluation of genetic variants associated with endometriosis near GREB1.
STUDY QUESTION Do DNA variants in the growth regulation by estrogen in breast cancer 1 (GREB1) region regulate endometrial GREB1 expression and increase the risk of developing endometriosis in women? SUMMARY ANSWER We identified new single nucleotide polymorphisms (SNPs) with strong association with endometriosis at the GREB1 locus although we did not detect altered GREB1 expression in endome...
متن کاملRevealing the impact of 17 mutations of human FMO3 protein associated with trimethylaminuria on its local spatial properties: a bioinformatic approach
Background Trimethylaminuria (TMAU) is a rare metabolic disorder manifesting in enormous excretion of trimethylamine (TMA) with urea, sweat and breath that leads to unpleasant body odour similar to rotting fish. TMAU has a strong genetic basis: 18 mutations (associated with 17 amino acid substitutions or chain truncation) of flavincontaining monooxygenase 3 (FMO3) are now recognized as a causat...
متن کاملMeta-analysis of genetic variants associated with human exceptional longevity
Despite evidence from family studies that there is a strong genetic influence upon exceptional longevity, relatively few genetic variants have been associated with this trait. One reason could be that many genes individually have such weak effects that they cannot meet standard thresholds of genome wide significance, but as a group in specific combinations of genetic variations, they can have a...
متن کاملfunctional genetic variants of foxp3 and risk of multiple sclerosis
background multiple sclerosis (ms) is an autoimmune disease that affects the central nervous system (cns). ms is one of the most common cause of neurological impairment at a young age with a complex etiology. the forkhead/winged helix (foxp3) gene encodes a transcription factor that plays an important role in the working and progress of regulatory t cells. loss of the foxp3 function impairs the...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Archives of Biochemistry and Biophysics
سال: 2007
ISSN: 0003-9861
DOI: 10.1016/j.abb.2007.04.014