ELIZA

return kwic search for identified out of >500 occurrences
324223 occurrences (No.64 in the rank) during 5 years in the PubMed. [no cache] 500 found

337) More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development.

--- ABSTRACT ---

PMID:24266705 DOI:10.1111/cge.12329

2015 Clinical genetics

* Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.

- Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild-type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non-affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice-site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development.

--- ABSTRACT END ---

[
right
kwic]

[frequency of next (right) word to identified]

(1)62 as	(11)7 based	(21)3 an	(31)2 differences
(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
(5)21 and	(15)5 to	(25)3 three	(35)2 their
(6)19 the	(16)5 two	(26)2 14	(36)2 themes
(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

add keyword

--- 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 ---