ELIZA

return kwic search for including out of >500 occurrences
468001 occurrences (No.36 in the rank) during 5 years in the PubMed. [no cache] 500 found

179) 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).

--- ABSTRACT ---

PMID:24359114 DOI:10.1111/cge.12336

2015 Clinical genetics

* 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.

--- ABSTRACT END ---

[
right
kwic]

[frequency of next (right) word to including]

(1)55 the	(10)3 all	(20)2 an	(29)2 lower
(2)28 13	(11)3 cell	(21)2 angiogenesis,	(30)2 lung
(3)11 a	(12)3 our	(22)2 appropriate	(31)2 many
(4)7 those	(13)3 reduced	(23)2 autism	(32)2 questions
(5)5 in	(14)3 their	(24)2 changes	(33)2 studies
(6)5 its	(15)3 three	(25)2 depression,	(34)2 topical
(7)4 2	(17)2 3	(26)2 improved	(35)2 two
(8)4 both	(18)2 37	(27)2 increased
(9)3 age,	(19)2 activated	(28)2 induction

add keyword

--- WordNet output for including --- =>含む Overview of verb include The verb include has 4 senses (first 4 from tagged texts) 1. (234) include -- (have as a part, be made up out of; "The list includes the names of many famous writers") 2. (32) include -- (consider as part of something; "I include you in the list of culprits") 3. (18) include -- (add as part of something else; put in as part of a set, group, or category; "We must include this chemical element in the group") 4. (8) admit, let in, include -- (allow participation in or the right to be part of; permit to exercise the rights, functions, and responsibilities of; "admit someone to the profession"; "She was admitted to the New Jersey Bar") --- WordNet end ---