SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

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Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family.

P2860

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SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

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http://www.wikidata.org/entity/Q38910961

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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

@wuu

2016年学术文章

@zh-cn

2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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2016年學術文章

@zh-hant

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SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

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type

Item

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SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

@en

prefLabel

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

@en

P1476

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

@en

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Alexander Sumaroka

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

Artur V Cideciyan

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

Michaela L Gruzensky

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

Robert K Koenekoop

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

Sharon B Schwartz

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

Tomas S Aleman

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P2860

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

A novel locus for Leber congenital amaurosis on chromosome 14q24.

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores.

TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.

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333-338

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scholarly article

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10.3109/13816810.2015.1130154

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P433

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

P478

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

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Samuel G. Jacobson

David B McGuigan

Rodrigo Matsui

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2016-02-08T00:00:00Z

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P5875

293634491

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26854980

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P932

4988809

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SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

about

P2860

P2860

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932