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- Medical English LInking keywords finder for the PubMed Zipped Archive (ELIZA) -
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kwic search for observed out of >500 occurrences
392826 occurrences (No.45 in the rank) during 5 years in the PubMed. [no cache]
500 found
437) 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.
* 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.
Overview of verb observe
The verb observe has 9 senses (first 8 from tagged texts)
1. (39) detect, observe, find, discover, notice -- (discover or determine the existence, presence,
or fact of; "She detected high levels of lead in her drinking water"; "We found traces of lead in
the paint")
2. (17) note, observe, mention, remark -- (make mention of; "She observed that his presentation took
up too much time"; "They noted that it was a fine day to go sailing")
3. (12) note, take note, observe -- (observe with care or pay close attention to; "Take note of this
chemical reaction")
4. (10) observe -- (watch attentively; "Please observe the reaction of these two chemicals")
5. (4) respect, honor, honour, abide by, observe -- (show respect towards; "honor your parents!")
6. (3) observe, celebrate, keep -- (behave as expected during of holidays or rites; "Keep the
commandments"; "celebrate Christmas"; "Observe Yom Kippur")
7. (2) watch, observe, follow, watch over, keep an eye on -- (follow with the eyes or the mind;
"Keep an eye on the baby, please!"; "The world is watching Sarajevo"; "She followed the men with the
binoculars")
8. (1) observe, keep, maintain -- (stick to correctly or closely; "The pianist kept time with the
metronome"; "keep count"; "I cannot keep track of all my employees")
9. observe, keep -- (conform one's action or practice to; "keep appointments"; "she never keeps her
promises"; "We kept to the original conditions of the contract")
Overview of adj observed
The adj observed has 1 sense (first 1 from tagged texts)
1. (7) ascertained, discovered, observed -- (discovered or determined by scientific observation;
"variation in the ascertained flux depends on a number of factors"; "the discovered behavior norms";
"discovered differences in achievement"; "no explanation for the observed phenomena")
--- WordNet end ---