Retinitis pigmentosa associated with a mutation in BEST1.

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Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.

P2860

Q52655380-7887B068-483A-451F-8540-EC1087180C9B

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Retinitis pigmentosa associated with a mutation in BEST1.

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http://www.wikidata.org/entity/Q55398434

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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Retinitis pigmentosa associated with a mutation in BEST1.

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Retinitis pigmentosa associated with a mutation in BEST1.

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Retinitis pigmentosa associated with a mutation in BEST1.

@en

Retinitis pigmentosa associated with a mutation in BEST1.

@nl

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Retinitis pigmentosa associated with a mutation in BEST1.

@en

Retinitis pigmentosa associated with a mutation in BEST1.

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Retinitis pigmentosa associated with a mutation in BEST1.

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Alan D Marmorstein

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Jackson E Abou Chehade

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John Chiang

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Josefine Fuchs

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Lauren A Dalvin

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Raymond Iezzi

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P2860

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

Identification of the gene responsible for Best macular dystrophy

Functional roles of bestrophins in ocular epithelia

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

The role of carbonic anhydrase inhibitors in the management of macular edema.

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11-17

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scholarly article

case report

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10.1016/J.AJOC.2016.03.005

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http://www.w3.org/2001/XMLSchema#string

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2016-03-30T00:00:00Z

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29503890

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5757359

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Retinitis pigmentosa associated with a mutation in BEST1.

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P2860

P2860

Retinitis pigmentosa associated with a mutation in BEST1.

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932