ELIZA

return kwic search for changes out of >500 occurrences
332920 occurrences (No.57 in the rank) during 5 years in the PubMed. [cache]

441) 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).

--- 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)247 in	(8)8 that	(15)3 have	(22)2 for
(2)31 of	(9)7 during	(16)3 over	(23)2 induced
(3)26 null	(10)6 may	(17)3 the	(24)2 or
(4)26 were	(11)5 at	(18)3 was	(25)2 related
(5)15 to	(12)4 on	(19)2 accompany	(26)2 seen
(6)13 and	(13)3 as	(20)2 can	(27)2 such
(7)8 are	(14)3 by	(21)2 could	(28)2 which

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--- WordNet output for changes --- Overview of noun change The noun change has 10 senses (first 7 from tagged texts) 1. (46) change, alteration, modification -- (an event that occurs when something passes from one state or phase to another; "the change was intended to increase sales"; "this storm is certainly a change for the worse"; "the neighborhood had undergone few modifications since his last visit years ago") 2. (45) change -- (a relational difference between states; especially between states before and after some event; "he attributed the change to their marriage") 3. (17) change -- (the action of changing something; "the change of government had no impact on the economy"; "his change on abortion cost him the election") 4. (13) change -- (the result of alteration or modification; "there were marked changes in the lining of the lungs"; "there had been no change in the mountains") 5. (2) change -- (the balance of money received when the amount you tender is greater than the amount due; "I paid with a twenty and pocketed the change") 6. (1) change -- (a thing that is different; "he inspected several changes before selecting one") 7. (1) change -- (a different or fresh set of clothes; "she brought a change in her overnight bag") 8. change -- (coins of small denomination regarded collectively; "he had a pocketful of change") 9. change -- (money received in return for its equivalent in a larger denomination or a different currency; "he got change for a twenty and used it to pay the taxi driver") 10. variety, change -- (a difference that is usually pleasant; "he goes to France for variety"; "it is a refreshing change to meet a woman mechanic") Overview of verb change The verb change has 10 senses (first 8 from tagged texts) 1. (57) change, alter, modify -- (cause to change; make different; cause a transformation; "The advent of the automobile may have altered the growth pattern of the city"; "The discussion has changed my thinking about the issue") 2. (54) change -- (undergo a change; become different in essence; losing one's or its original nature; "She changed completely as she grew older"; "The weather changed last night") 3. (13) change, alter, vary -- (become different in some particular way, without permanently losing one's or its former characteristics or essence; "her mood changes in accordance with the weather"; "The supermarket's selection of vegetables varies according to the season") 4. (7) switch, shift, change -- (lay aside, abandon, or leave for another; "switch to a different brand of beer"; "She switched psychiatrists"; "The car changed lanes") 5. (6) change -- (change clothes; put on different clothes; "Change before you go to the opera") 6. (5) change, exchange, commute, convert -- (exchange or replace with another, usually of the same kind or category; "Could you convert my dollars into pounds?"; "He changed his name"; "convert centimeters into inches"; "convert holdings into shares") 7. (3) exchange, change, interchange -- (give to, and receive from, one another; "Would you change places with me?"; "We have been exchanging letters for a year") 8. (3) transfer, change -- (change from one vehicle or transportation line to another; "She changed in Chicago on her way to the East coast") 9. deepen, change -- (become deeper in tone; "His voice began to change when he was 12 years old"; "Her voice deepened when she whispered the password") 10. change -- (remove or replace the coverings of; "Father had to learn how to change the baby"; "After each guest we changed the bed linens") --- WordNet end ---