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return kwic search for novel out of >500 occurrences
330250 occurrences (No.59 in the rank) during 5 years in the PubMed. [no cache] 500 found

221) Beyond the expansion of the RSTS-EP300-mutated cohort, this study indicates that EP300-related RSTS cases occur more frequently than previously thought (˜8% vs 3-5%); furthermore, the characterization of novel EP300 mutations in RSTS patients will enhance the clinical practice and genotype-phenotype correlations.

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PMID:24476420 DOI:10.1111/cge.12348

2015 Clinical genetics

* Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

- Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ˜55% and ˜3-5% of affected individuals, respectively. To date, only eight EP300-mutated RSTS patients have been described and 12 additional mutations are reported in the database LOVD. In this study, EP300 analysis was performed on 33 CREBBP-negative RSTS patients leading to the identification of six unreported germline EP300 alterations comprising one deletion and five point mutations. All six patients showed a convincing, albeit mild, RSTS phenotype with minor skeletal anomalies, slight cognitive impairment and few major malformations. Beyond the expansion of the RSTS-EP300-mutated cohort, this study indicates that EP300-related RSTS cases occur more frequently than previously thought (˜8% vs 3-5%); furthermore, the characterization of novel EP300 mutations in RSTS patients will enhance the clinical practice and genotype-phenotype correlations.

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(1)22 therapeutic	(17)3 mutation	(33)2 approaches	(49)2 information
(2)11 and	(18)3 paradigm	(34)2 autosomal	(50)2 inhibitors
(3)8 mechanism	(19)3 role	(35)2 candidate	(51)2 learning
(4)8 method	(20)3 strain	(36)2 cardiac	(52)2 modulators
(5)7 approach	(21)3 target	(37)2 clinical	(53)2 object
(6)7 mutations	(22)3 targeted	(38)2 compounds	(54)2 oral
(7)6 therapies	(23)3 targets	(39)2 data	(55)2 polymer
(8)5 technique	(24)3 treatment	(40)2 described	(56)2 potent
(9)4 strategies	(25)3 type	(41)2 dual	(57)2 prognostic
(10)4 strategy	(26)3 words	(42)2 electroporation	(58)2 putative
(11)4 surgical	(27)2 null	(43)2 finding	(59)2 recombinants
(12)3 antibacterial	(28)2 anti-tumor	(44)2 findings	(60)2 results
(13)3 drug	(29)2 antibiotic	(45)2 form	(61)2 therapeutical
(14)3 homozygous	(30)2 anticancer	(46)2 genetic	(62)2 titanium
(15)3 insights	(31)2 application	(47)2 imaging	(63)2 treatments
(16)3 mechanisms	(32)2 applications	(48)2 in

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--- WordNet output for novel --- =>1.よく知られていない, 新しい, 珍奇な, 異常な, 新奇な, 目新しい, 2.(長編)小説 Overview of noun novel The noun novel has 2 senses (first 1 from tagged texts) 1. (17) novel -- (an extended fictional work in prose; usually in the form of a story) 2. novel -- (a printed and bound book that is an extended work of fiction; "his bookcases were filled with nothing but novels"; "he burned all the novels") Overview of adj novel The adj novel has 2 senses (first 1 from tagged texts) 1. (6) fresh, new, novel -- (original and of a kind not seen before; "the computer produced a completely novel proof of a well-known theorem") 2. novel, refreshing -- (pleasantly new or different; "common sense of a most refreshing sort") --- WordNet end ---