IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61988987%3A17110%2F19%3AA21026ZA" target="_blank" >RIV/61988987:17110/19:A21026ZA - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/19:10400070 RIV/00843989:_____/19:E0107861 RIV/00064165:_____/19:10400070

Result on the web

<a href="http://dx.doi.org/10.1167/iovs.19-26930" target="_blank" >http://dx.doi.org/10.1167/iovs.19-26930</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1167/iovs.19-26930" target="_blank" >10.1167/iovs.19-26930</a>

Result language

angličtina

Original language name

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

Original language description

To report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss (also known as Harboyan syndrome). Furthermore, we developed a cellular model to determine if disease-associated variants induce aberrant SLC4A11 pre-mRNA splicing.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30207 - Ophthalmology

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

INVEST OPHTH VIS SCI

ISSN

0146-0404

e-ISSN

1552-5783

Volume of the periodical

60

Issue of the periodical within the volume

8

Country of publishing house

AE - UNITED ARAB EMIRATES

Number of pages

6

Pages from-to

3084-3090

UT code for WoS article

000478827000004

EID of the result in the Scopus database

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