ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
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Mutations in human IFT140 cause non-syndromic retinal degenerationNGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsAchromatopsia mutations target sequential steps of ATF6 activation.Amelioration of bleomycin-induced pulmonary fibrosis by chlorogenic acid through endoplasmic reticulum stress inhibition.REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.Endoplasmic reticulum stress in human photoreceptor diseases.Regulating Secretory Proteostasis through the Unfolded Protein Response: From Function to Therapy.The phenotypic variability of HK1-associated retinal dystrophy.Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesAutosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.The unfolded protein response regulator ATF6 promotes mesodermal differentiation.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.A lifetime of stress: ATF6 in development and homeostasis.
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P2860
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
@zh-cn
name
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
@ast
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
@en
type
label
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
@ast
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
@en
prefLabel
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
@ast
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
@en
P2093
P2860
P356
P1476
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
@en
P2093
Aiden Eblimit
Briana L Sawyer
Donnell J Creel
Glen Jenkins
Keqing Wang
M Elizabeth Hartnett
Marielle P Young
Mingchu Xu
P2860
P304
P356
10.1167/IOVS.15-16778
P407
P50
P577
2015-06-01T00:00:00Z