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267449 occurrences (No.100 in the rank) during 5 years in the PubMed. [no cache] 500 found

92) This is to review the current state of knowledge on the functional and clinical aspects of bestrophin 1, a prominent member of a family of proteins involved in the control and properties of the light peak of the EOG.

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PMID:24328569 DOI:10.3109/13816810.2013.863945

2015 Ophthalmic genetics

* Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.

- This is to review the current state of knowledge on the functional and clinical aspects of bestrophin 1, a prominent member of a family of proteins involved in the control and properties of the light peak of the EOG. Initially human bestrophin 1 gene (BEST1) mutations were identified to underlie Best vitelliform macular dystrophy (VMD), a dominantly inherited, juvenile-onset form of macular degeneration. In the recent past the phenotypical spectrum of retinal disorders associated with BEST1 mutations has been extended and the term bestrophinopathies was coined. The physiological role of bestrophin 1 is still not completely understood but has been linked to the generation of a transepithelial chloride current by controlling voltage-dependent calcium channels (VDCC). Dysfunction of bestrophin 1 may result in abnormal ion and fluid transport by the retinal pigment epithelium (RPE) disturbing and even disrupting direct interactions between the RPE and the photoreceptors.

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(1)50 magnetic	(18)4 gastrointestinal	(35)3 integration	(52)2 connections
(2)38 connectivity	(19)4 outcome	(36)3 interactions	(53)2 differentiation
(3)29 and	(20)4 outcomes	(37)3 movement	(54)2 domains
(4)8 limitations	(21)4 relationships	(38)3 single	(55)2 endurance
(5)7 network	(22)4 unit	(39)3 status	(56)2 health
(6)7 recovery	(23)3 Assessment	(40)3 status,	(57)2 imaging
(7)7 role	(24)3 MRI	(41)3 studies	(58)2 impact
(8)6 changes	(25)3 Well-Being	(42)2 CD133	(59)2 integrity
(9)6 results	(26)3 activation	(43)2 HL	(60)2 losses
(10)5 alterations	(27)3 brain	(44)2 ability	(61)2 networks
(11)5 limitation	(28)3 consequences	(45)2 activity	(62)2 neuronal
(12)5 neuroimaging	(29)3 coupling	(46)2 analyses	(63)2 organization
(13)5 properties	(30)3 decline	(47)2 as	(64)2 parameters
(14)5 theory	(31)3 deficits	(48)2 assays	(65)2 roles
(15)4 capacity	(32)3 differences	(49)2 assessment	(66)2 significance
(16)4 connectivity,	(33)3 impairment	(50)2 characteristics	(67)2 specialization
(17)4 foods	(34)3 improvement	(51)2 cognitive

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--- WordNet output for functional --- =>機能の, 関数の, 機能する, 機能上の, 実用的な, 機能的な Overview of adj functional The adj functional has 6 senses (first 2 from tagged texts) 1. (3) functional -- (designed for or capable of a particular function or use; "a style of writing in which every word is functional"; "functional architecture") 2. (1) functional -- (involving or affecting function rather than physiology; "functional deafness") 3. functional -- (relating to or based on function especially as opposed to structure; "the problem now is not a constitutional one; it is a functional one"; "delegates elected on a functional rather than a geographical basis") 4. functional, usable, useable, operable, operational -- (fit or ready for use or service; "the toaster was still functional even after being dropped"; "the lawnmower is a bit rusty but still usable"; "an operational aircraft"; "the dishwasher is now in working order") 5. functional -- (designed for or adapted to a function or use; "functional education selects knowledge that is concrete and usable rather than abstract and theoretical"; "functional architecture") 6. running, operative, functional, working -- ((of e.g. a machine) performing or capable of performing; "in running (or working) order"; "a functional set of brakes") --- WordNet end ---