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kwic search for functional out of >500 occurrences
267449 occurrences (No.100 in the rank) during 5 years in the PubMed. [no cache]
500 found
281) Overall, our data widens the spectrum of the mutations on FA2H, and functional analyses indicate that these mutations severely impair the enzymatic activity of FA2H.
* SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.
- Hereditary spastic paraplegias (HSPs) encompass a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, mutations in fatty acid 2-hydroxylase gene (FA2H) have been identified responsible for HSPs type 35 (SPG35). This study aims to define the contribution of FA2H to Chinese autosomal recessive HSP (AR-HSP) patients and provide insights into the enzymatic functions of the novel mutations. Direct sequencing of FA2H was conducted in 31 AR-HSP families and 55 sporadic cases without SPG11, SPG15, SPG5 and SPG7 gene mutations. Enzymatic activity of the mutated proteins was further examined. Three novel mutations were found in two Chinese families, including two compound heterozygous mutations (c.388C>T/p.L130F and c.506+6C>G) and one homozygous mutation (c.230T>G/p.L77R). The c.506+6C>G splice-site mutation led to the deletion of exon 3. Measurement of enzymatic functions revealed a significant reduction in the enzymatic activity of FA2H associated with p.L130F and p.L77R. Overall, our data widens the spectrum of the mutations on FA2H, and functional analyses indicate that these mutations severely impair the enzymatic activity of FA2H. Furthermore, frequency analysis shows that SPG35 is the second most common subtype of AR-HSP in China.
=>機能の, 関数の, 機能する, 機能上の, 実用的な, 機能的な
Overview of adj functional
The adj functional has 6 senses (first 2 from tagged texts)
1. (3) functional -- (designed for or capable of a particular function or use; "a style of writing
in which every word is functional"; "functional architecture")
2. (1) functional -- (involving or affecting function rather than physiology; "functional deafness")
3. functional -- (relating to or based on function especially as opposed to structure; "the problem
now is not a constitutional one; it is a functional one"; "delegates elected on a functional rather
than a geographical basis")
4. functional, usable, useable, operable, operational -- (fit or ready for use or service; "the
toaster was still functional even after being dropped"; "the lawnmower is a bit rusty but still
usable"; "an operational aircraft"; "the dishwasher is now in working order")
5. functional -- (designed for or adapted to a function or use; "functional education selects
knowledge that is concrete and usable rather than abstract and theoretical"; "functional
architecture")
6. running, operative, functional, working -- ((of e.g. a machine) performing or capable of
performing; "in running (or working) order"; "a functional set of brakes")
--- WordNet end ---