ELIZA

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

218) Genetic studies have identified several loci, but the molecular basis of SLI remains unclear.

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PMID:35053791 DOI:10.3390/brainsci12010047

2021 Brain sciences

* Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

- Specific language impairment (SLI) is a common neurodevelopmental disorder (NDD) that displays high heritability estimates. Genetic studies have identified several loci, but the molecular basis of SLI remains unclear. With the aim to better understand the genetic architecture of SLI, we performed whole-exome sequencing (WES) in a single family (ID: 489; n = 11). We identified co-segregating rare variants in three new genes: BUD13, APLP2, and NDRG2. To determine the significance of these genes in SLI, we Sanger sequenced all coding regions of each gene in unrelated individuals with SLI (n = 175). We observed 13 additional rare variants in 18 unrelated individuals. Variants in BUD13 reached genome-wide significance (p-value < 0.01) upon comparison with similar variants in the 1000 Genomes Project, providing gene level evidence that BUD13 is involved in SLI. Additionally, five BUD13 variants showed cohesive variant level evidence of likely pathogenicity. Bud13 is a component of the retention and splicing (RES) complex. Additional supportive evidence from studies of an animal model (loss-of-function mutations in BUD13 caused a profound neural phenotype) and individuals with an NDD phenotype (carrying a CNV spanning BUD13), indicates BUD13 could be a target for investigation of the neural basis of language.

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(1)32 null	(15)6 several	(29)2 (1)	(43)2 eleven
(2)31 in	(16)6 studies	(30)2 10	(44)2 factors
(3)27 a	(17)5 were	(31)2 17	(45)2 key
(4)26 as	(18)4 five	(32)2 21	(46)2 knowledge
(5)22 and	(19)4 practices	(33)2 22	(47)2 many
(6)14 the	(20)3 (a)	(34)2 23	(48)2 more
(7)13 from	(21)3 15	(35)2 26	(49)2 only
(8)10 through	(22)3 28	(36)2 37	(50)2 peer-reviewed
(9)8 that	(23)3 an	(37)2 38	(51)2 proteins
(10)7 with	(24)3 including	(38)2 across	(52)2 sPLA2-IIA
(11)6 by	(25)3 to	(39)2 among	(53)2 significant
(12)6 for	(26)3 using	(40)2 barriers	(54)2 three
(13)6 four	(27)3 via	(41)2 challenges
(14)6 of	(28)3 which	(42)2 during

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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 ---