kwic
acid
acid
right
off
ON
167
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 acid out of >500 occurrences
272943 occurrences (No.93 in the rank) during 5 years in the PubMed. [cache]
--- ABSTRACT ---
--- ABSTRACT END ---
[frequency of next (right) word to acid]
272943 occurrences (No.93 in the rank) during 5 years in the PubMed. [cache]
| 167) Thirteen mutations were identified which included 11 missense mutations causing single amino acid changes (p.Arg49Trp, p.Arg58Gln, p.Pro145Ser, p.Gly155Glu, p.Arg160Pro, p.Met177Ile, p.Met177Val, p.Ile178Thr, p.Ala179Thr, p.Thr238Met, and p.Val253Met), one stop codon mutation (p.Trp236X) and one splice-site mutation (p.Gly76Ser). |
| PMID:24266649 DOI:10.1111/cge.12326 |
| 2015 Clinical genetics |
| * Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. |
| - We report the clinical features and molecular characterization of 23 patients with cyanosis due to NADH-cytochrome b5 reductase (NADH-CYB5R) deficiency from India. The patients with type I recessive congenital methemoglobinemia (RCM) presented with mild to severe cyanosis only whereas patients with type II RCM had cyanosis associated with severe neurological impairment. Thirteen mutations were identified which included 11 missense mutations causing single amino acid changes (p.Arg49Trp, p.Arg58Gln, p.Pro145Ser, p.Gly155Glu, p.Arg160Pro, p.Met177Ile, p.Met177Val, p.Ile178Thr, p.Ala179Thr, p.Thr238Met, and p.Val253Met), one stop codon mutation (p.Trp236X) and one splice-site mutation (p.Gly76Ser). Seven of these mutations (p.Arg50Trp, p.Gly155Glu, p.Arg160Pro, p.Met177Ile, p.Met177Val, p.Ile178Thr, and p.Thr238Met) were novel. Two mutations (p.Gly76Ser and p.Trp236X) were identified for the first time in the homozygous state globally causing type II RCM. We used the three-dimensional (3D) structure of human erythrocyte NADH-CYB5R to evaluate the protein structural context of the affected residues. Our data provides a rationale for the observed enzyme deficiency and contributes to a better understanding of the genotype-phenotype correlation in NADH-CYB5R deficiency. |
[
right
kwic]
(1)29  and |
(20)4 treatment |
(39)2 (FA) |
(58)2 from |
| (2)15 *null* | (21)3 (AA) |
(40)2 (PA) |
(59)2 hydrolysis |
| (3)11 in |
(22)3 (ALA) |
(41)2 (PLGA) |
(60)2 interactions |
| (4)10 phenethyl |
(23)3 (GABA) |
(42)2 (PLGA), |
(61)2 may |
| (5)10 phosphatase |
(24)3 (NEFA) |
(43)2 (SA) |
(62)2 nanoparticles |
| (6)9 is |
(25)3 changes |
(44)2 (SLA) |
(63)2 peptide |
| (7)8 was |
(26)3 decarboxylase |
(45)2 (TA) |
(64)2 proteins |
| (8)6 (HA) |
(27)3 etching |
(46)2 (TCA) |
(65)2 racemization |
| (9)6 reactive |
(28)3 levels |
(47)2 A |
(66)2 ratio |
| (10)5 as |
(29)3 metabolism |
(48)2 BSA |
(67)2 residues |
| (11)5 bacteria |
(30)3 on |
(49)2 Ig-superfamily |
(68)2 substances |
| (12)5 group |
(31)3 protein |
(50)2 Schiff |
(69)2 suppressive |
| (13)5 or |
(32)3 sequence |
(51)2 biosynthesis |
(70)2 synthetase |
| (14)5 synthesis |
(33)3 sequences |
(52)2 by |
(71)2 the |
| (15)5 to |
(34)3 status |
(53)2 changes, |
(72)2 therapy |
| (16)4 binding |
(35)3 were |
(54)2 composition |
(73)2 vitamin |
| (17)4 derivatives |
(36)2 (DHA) |
(55)2 contents |
|
| (18)4 for |
(37)2 (EDTA) |
(56)2 cycle |
|
| (19)4 solution |
(38)2 (EPA) |
(57)2 extract |
add keyword
--- WordNet output for acid ---