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return kwic search for development out of >500 occurrences
383385 occurrences (No.47 in the rank) during 5 years in the PubMed. [cache]

325) 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.

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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.

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[frequency of next (right) word to development]

(1)236 of	(6)6 was	(11)3 and/or	(16)2 on
(2)59 and	(7)5 as	(12)3 by	(17)2 progression,
(3)54 null	(8)4 are	(13)3 including	(18)2 to
(4)21 in	(9)4 for	(14)3 process
(5)6 is	(10)4 were	(15)2 after

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--- WordNet output for development --- =>発達, 開発, 産物, 進展 Overview of noun development The noun development has 9 senses (first 7 from tagged texts) 1. (52) development -- (act of improving by expanding or enlarging or refining; "he congratulated them on their development of a plan to meet the emergency"; "they funded research and development") 2. (46) development, evolution -- (a process in which something passes by degrees to a different stage (especially a more advanced or mature stage); "the development of his ideas took many years"; "the evolution of Greek civilization"; "the slow development of her skill as a writer") 3. (11) growth, growing, maturation, development, ontogeny, ontogenesis -- ((biology) the process of an individual organism growing organically; a purely biological unfolding of events involved in an organism changing gradually from a simple to a more complex level; "he proposed an indicator of osseous development in children") 4. (9) development -- (a recent event that has some relevance for the present situation; "recent developments in Iraq"; "what a revolting development!") 5. (7) exploitation, development -- (the act of making some area of land or water more profitable or productive or useful; "the development of Alaskan resources"; "the exploitation of copper deposits") 6. (6) development -- (a district that has been developed to serve some purpose; "such land is practical for small park developments") 7. (4) development -- (a state in which things are improving; the result of developing (as in the early part of a game of chess); "after he saw the latest development he changed his mind and became a supporter"; "in chess your should take care of your development before moving your queen") 8. development, developing -- (processing a photosensitive material in order to make an image visible; "the development and printing of his pictures took only two hours") 9. development -- ((music) the section of a composition or movement (especially in sonata form) where the major musical themes are developed and elaborated) --- WordNet end ---