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return kwic search for first out of >500 occurrences
378430 occurrences (No.48 in the rank) during 5 years in the PubMed. [no cache] 500 found

7) Two mutations (p.Gly76Ser and p.Trp236X) were identified for the first time in the homozygous state globally causing type II RCM.

--- ABSTRACT ---

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.

--- ABSTRACT END ---

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(1)32 time	(19)5 meaningful	(37)2 5	(55)2 marriage
(2)21 report	(20)4 line	(38)2 6	(56)2 meta-analysis
(3)11 and	(21)3 14	(39)2 72	(57)2 mitochondrial
(4)11 to	(22)3 3	(40)2 application	(58)2 months
(5)10 time,	(23)3 complete	(41)2 approach	(59)2 myocardial
(6)9 year	(24)3 described	(42)2 article	(60)2 postnatal
(7)8 2	(25)3 in	(43)2 attempt	(61)2 presented
(8)8 molar	(26)3 it	(44)2 choice	(62)2 relapse
(9)8 reported	(27)3 order	(45)2 clinical	(63)2 smear
(10)8 step	(28)3 postoperative	(46)2 component	(64)2 stage
(11)8 we	(29)3 record	(47)2 comprehensive	(65)2 step,
(12)7 case	(30)3 sequenced	(48)2 concern	(66)2 test
(13)6 determined	(31)3 the	(49)2 course	(67)2 that
(14)6 group	(32)3 treatment	(50)2 demonstration	(68)2 therapy
(15)6 study	(33)3 two	(51)2 few	(69)2 trimester
(16)5 dose	(34)3 was	(52)2 intentions	(70)2 trimester,
(17)5 evidence	(35)2 null	(53)2 introduction	(71)2 using
(18)5 generation	(36)2 30	(54)2 left

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--- WordNet output for first --- =>初めて, 最初の, 第一の, はじめに, 最初, 第1 Overview of noun first The noun first has 6 senses (first 4 from tagged texts) 1. (9) first, number one -- (the first or highest in an ordering or series; "He wanted to be the first") 2. (5) first, number one, number 1 -- (the first element in a countable series; "the first of the month") 3. (1) beginning, commencement, first, outset, get-go, start, kickoff, starting time, showtime, offset -- (the time at which something is supposed to begin; "they got an early start"; "she knew from the get-go that he was the man for her") 4. (1) first base, first -- (the fielding position of the player on a baseball team who is stationed at first of the bases in the infield (counting counterclockwise from home plate)) 5. first, first-class honours degree -- (an honours degree of the highest class) 6. first gear, first, low gear, low -- (the lowest forward gear ratio in the gear box of a motor vehicle; used to start a car moving) Overview of adj first The adj first has 6 senses (first 5 from tagged texts) 1. (232) first -- (preceding all others in time or space or degree; "the first house on the right"; "the first day of spring"; "his first political race"; "her first baby"; "the first time"; "the first meetings of the new party"; "the first phase of his training") 2. (61) first, 1st -- (indicating the beginning unit in a series) 3. (4) inaugural, initiative, initiatory, first, maiden -- (serving to set in motion; "the magazine's inaugural issue"; "the initiative phase in the negotiations"; "an initiatory step toward a treaty"; "his first (or maiden) speech in Congress"; "the liner's maiden voyage") 4. (4) beginning, first -- (serving to begin; "the beginning canto of the poem"; "the first verse") 5. (3) first, foremost, world-class -- (ranking above all others; "was first in her class"; "the foremost figure among marine artists"; "the top graduate") 6. first -- (highest in pitch or chief among parts or voices or instruments or orchestra sections; "first soprano"; "the first violin section"; "played first horn") Overview of adv first The adv first has 4 senses (first 4 from tagged texts) 1. (58) first, firstly, foremost, first of all, first off -- (before anything else; "first we must consider the garter snake") 2. (40) first, for the first time -- (the initial time; "when Felix first saw a garter snake") 3. (9) first -- (before another in time, space, or importance; "I was here first"; "let's do this job first") 4. (4) foremost, first -- (prominently forward; "he put his best foot foremost") --- WordNet end ---