kwic
novel
novel
right
off
ON
94
1
100
500
strict
ELIZA cgi-bash version rev. 1.90
- Medical English LInking keywords finder for the PubMed Zipped Archive (ELIZA) -
return
kwic search for novel out of >500 occurrences
330250 occurrences (No.59 in the rank) during 5 years in the PubMed. [cache]
--- ABSTRACT ---
--- ABSTRACT END ---
[frequency of next (right) word to novel]
330250 occurrences (No.59 in the rank) during 5 years in the PubMed. [cache]
| 94) We identified a novel homozygous p.M329V in SUCLA2. |
| PMID:24659738 DOI:10.1177/0883073814527158 |
| 2015 Journal of child neurology |
| * A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria. |
| - Succinyl-coenzyme A synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and adenosine triphosphate (ATP) from succinyl-coenzyme A and adenosine diphosphate (ADP) in the tricarboxylic acid cycle. This enzyme is made up of α and β subunits encoded by SUCLG1 and SUCLA2, respectively. We present a child with severe muscular hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism. Metabolic investigations disclosed hyperlactacidemia, moderate urinary excretion of methylmalonic acid, and elevated levels of C4-dicarboxylic carnitine in blood. We identified a novel homozygous p.M329V in SUCLA2. In cultured cells, the p.M329V resulted in a reduced amount of the SUCLA2 protein, impaired production of mitochondrial ATP, and enhanced production of reactive oxygen species, which was partially reduced by using 5-aminoimidazole-4-carboxamide ribonucleotide in the culture medium. Expanding the array of SUCLA2 mutations, we suggested that reactive oxygen species scavengers are likely to impact on disease prognosis. |
[
right
kwic]
(1)22  therapeutic |
(17)3 mutation |
(33)2 approaches |
(49)2 information |
| (2)11 and |
(18)3 paradigm |
(34)2 autosomal |
(50)2 inhibitors |
| (3)8 mechanism |
(19)3 role |
(35)2 candidate |
(51)2 learning |
| (4)8 method |
(20)3 strain |
(36)2 cardiac |
(52)2 modulators |
| (5)7 approach |
(21)3 target |
(37)2 clinical |
(53)2 object |
| (6)7 mutations |
(22)3 targeted |
(38)2 compounds |
(54)2 oral |
| (7)6 therapies |
(23)3 targets |
(39)2 data |
(55)2 polymer |
| (8)5 technique |
(24)3 treatment |
(40)2 described |
(56)2 potent |
| (9)4 strategies |
(25)3 type |
(41)2 dual |
(57)2 prognostic |
| (10)4 strategy |
(26)3 words |
(42)2 electroporation |
(58)2 putative |
| (11)4 surgical |
(27)2 *null* | (43)2 finding |
(59)2 recombinants |
| (12)3 antibacterial |
(28)2 anti-tumor |
(44)2 findings |
(60)2 results |
| (13)3 drug |
(29)2 antibiotic |
(45)2 form |
(61)2 therapeutical |
| (14)3 homozygous |
(30)2 anticancer |
(46)2 genetic |
(62)2 titanium |
| (15)3 insights |
(31)2 application |
(47)2 imaging |
(63)2 treatments |
| (16)3 mechanisms |
(32)2 applications |
(48)2 in |
add keyword
--- WordNet output for novel ---