Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells

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Mutations and mechanisms in congenital and age-related cataracts.Lens ER-stress response during cataract development in Mip-mutant mice.Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.

P2860

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P2860

Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells

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http://www.wikidata.org/entity/Q36910699

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Human βA3/A1-crystallin splici ...... fferentiating lens fiber cells

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type

Item

label

Human βA3/A1-crystallin splici ...... fferentiating lens fiber cells

@en

prefLabel

Human βA3/A1-crystallin splici ...... fferentiating lens fiber cells

@en

P1476

Human βA3/A1-crystallin splici ...... fferentiating lens fiber cells

@en

P2093

Chitra Kannabiran

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Eric Wawrousek

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J Fielding Hejtmancik

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

Wenliang Yao

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

Zhiwei Ma

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P2860

Crystallin gene mutations in Indian families with inherited pediatric cataract

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I

Mechanisms of alternative pre-messenger RNA splicing

Structure of the crystallins

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families

Autosomal dominant zonular cataract with sutural opacities in a four-generation family

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

The nonsense-mediated decay RNA surveillance pathway

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract

betaA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during development

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1214-1227

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scholarly article

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10.1016/J.BBADIS.2016.02.003

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English

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1862

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Chi-Chao Chan

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2016-02-03T00:00:00Z

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26851658

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P932

4870603

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Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells

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P2860

P2860

Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932