ELIZA

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324223 occurrences (No.64 in the rank) during 5 years in the PubMed. [no cache] 500 found

232) We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that the condition is in fact xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex.

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PMID:24354460 DOI:10.1111/cge.12325

2015 Clinical genetics

* Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

- An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this study was to identify the causal mutation in the pellagra-like condition and investigate the mechanism by which niacin confers clinical benefit. Autozygosity mapping and exome sequencing were used to identify the causal mutation, and comet assay on patient fibroblasts before and after niacin treatment to assess its effect on DNA damage. We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that the condition is in fact xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex. Importantly, we also show that the previously described dermatological response to niacin is consistent with a dramatic protective effect against ultraviolet-induced DNA damage in patient fibroblasts conferred by niacin treatment. Our findings show the power of exome sequencing in reassigning previously described novel clinical entities, and suggest a mechanism for the dermatological response to niacin in patients with XP/CS complex. This raises interesting possibilities about the potential therapeutic use of niacin in XP.

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(2)54 in	(12)7 on	(22)3 during	(32)2 five
(3)38 null	(13)6 with	(23)3 factors	(33)2 for
(4)24 by	(14)5 between	(24)3 several	(34)2 regulation
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(7)18 a	(17)4 four	(27)2 4	(37)2 through
(8)12 using	(18)4 including	(28)2 are
(9)10 that	(19)4 which	(29)2 at
(10)8 from	(20)3 along	(30)2 but

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--- WordNet output for identified --- =>確認飛行物体;略:IFO Overview of verb identify The verb identify has 6 senses (first 6 from tagged texts) 1. (32) identify, place -- (recognize as being; establish the identity of someone or something; "She identified the man on the 'wanted' poster") 2. (7) name, identify -- (give the name or identifying characteristics of; refer to by name or some other identifying characteristic property; "Many senators were named in connection with the scandal"; "The almanac identifies the auspicious months") 3. (6) identify -- (consider (oneself) as similar to somebody else; "He identified with the refugees") 4. (4) identify -- (conceive of as united or associated; "Sex activity is closely identified with the hypothalamus") 5. (2) identify, discover, key, key out, distinguish, describe, name -- (identify as in botany or biology, for example) 6. (2) identify -- (consider to be equal or the same; "He identified his brother as one of the fugitives") Overview of adj identified The adj identified has 1 sense (first 1 from tagged texts) 1. (1) identified -- (having the identity known or established; "the identified bodies were released for burial") --- WordNet end ---