ELIZA

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308129 occurrences (No.71 in the rank) during 5 years in the PubMed. [no cache] 500 found

397) 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.

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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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(1)388 that	(3)16 the	(5)7 an	(7)3 possible
(2)23 a	(4)8 that,	(6)3 increased	(8)2 different

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--- WordNet output for suggest --- =>〜しようと提案する, を提案する, 示唆する, 暗示する, 提案する Overview of verb suggest The verb suggest has 5 senses (first 5 from tagged texts) 1. (57) propose, suggest, advise -- (make a proposal, declare a plan for something; "the senator proposed to abolish the sales tax") 2. (21) hint, suggest -- (drop a hint; intimate by a hint) 3. (19) suggest, intimate -- (imply as a possibility; "The evidence suggests a need for more clarification") 4. (14) indicate, suggest -- (suggest the necessity of an intervention; in medicine; "Tetracycline is indicated in such cases") 5. (12) suggest, evoke, paint a picture -- (call to mind; "this remark evoked sadness") --- WordNet end ---