Mutation of ATF6 causes autosomal recessive achromatopsia.

Mutation of ATF6 causes autosomal recessive achromatopsia.

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http://www.wikidata.org/entity/Q35929399
Achromatopsia mutations target sequential steps of ATF6 activation.Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep.ER stress and the unfolded protein response in neurodegeneration.Endoplasmic reticulum stress in human photoreceptor diseases.Regulating Secretory Proteostasis through the Unfolded Protein Response: From Function to Therapy.Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.Physiological/pathological ramifications of transcription factors in the unfolded protein response.Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia.Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.Neurotoxicity of cGMP in the vertebrate retina: from the initial research on rd mutant mice to zebrafish genetic approaches.The unfolded protein response regulator ATF6 promotes mesodermal differentiation.Activating transcription factor 6α deficiency exacerbates oligodendrocyte death and myelin damage in immune-mediated demyelinating diseases.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.A lifetime of stress: ATF6 in development and homeostasis.Pharmacologic ATF6 activating compounds are metabolically activated to selectively modify endoplasmic reticulum proteinsWhole exome sequencing of families with 1q21.1 microdeletion or microduplicationBaldspot/ELOVL6 is a conserved modifier of disease and the ER stress response
P2860

Mutation of ATF6 causes autosomal recessive achromatopsia.

Item
http://www.wikidata.org/entity/Q35929399
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Mutation of ATF6 causes autosomal recessive achromatopsia.
@ast
Mutation of ATF6 causes autosomal recessive achromatopsia.
@en
type
label
Mutation of ATF6 causes autosomal recessive achromatopsia.
@ast
Mutation of ATF6 causes autosomal recessive achromatopsia.
@en
prefLabel
Mutation of ATF6 causes autosomal recessive achromatopsia.
@ast
Mutation of ATF6 causes autosomal recessive achromatopsia.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Mutation of ATF6 causes autosomal recessive achromatopsia.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932