A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
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Cleft Palate, Moderate Lung Developmental Retardation and Early Postnatal Lethality in Mice Deficient in the Kir7.1 Inwardly Rectifying K+ ChannelMouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologiesWhole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.Photoreceptor protection via blockade of BET epigenetic readers in a murine model of inherited retinal degeneration.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.Oxytocin (OXT)-stimulated inhibition of Kir7.1 activity is through PIP2-dependent Ca2+ response of the oxytocin receptor in the retinal pigment epithelium in vitro.Abnormal Electroretinogram after Kir7.1 Channel Suppression Suggests Role in Retinal ElectrophysiologyRole of the sigma-1 receptor chaperone in rod and cone photoreceptor degenerations in a mouse model of retinitis pigmentosaML418: The First Selective, Sub-Micromolar Pore Blocker of Kir7.1 Potassium ChannelsOtx2-Genetically Modified Retinal Pigment Epithelial Cells Rescue Photoreceptors after Transplantation.The potassium channel KCNJ13 is essential for smooth muscle cytoskeletal organization during mouse tracheal tubulogenesis
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A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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2015年學術文章
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name
A Novel KCNJ13 Nonsense Mutati ...... Congenital Amaurosis (LCA16).
@en
A Novel KCNJ13 Nonsense Mutati ...... ses Leber Congenital Amaurosis
@nl
type
label
A Novel KCNJ13 Nonsense Mutati ...... Congenital Amaurosis (LCA16).
@en
A Novel KCNJ13 Nonsense Mutati ...... ses Leber Congenital Amaurosis
@nl
prefLabel
A Novel KCNJ13 Nonsense Mutati ...... Congenital Amaurosis (LCA16).
@en
A Novel KCNJ13 Nonsense Mutati ...... ses Leber Congenital Amaurosis
@nl
P2093
P2860
P356
P1433
P1476
A Novel KCNJ13 Nonsense Mutati ...... Congenital Amaurosis (LCA16).
@en
P2093
De-Ann M Pillers
Elias I Traboulsi
John Chiang
Meghan J Marino
Nathaniel York
Pawan K Shahi
Simran Brar
Xinying Liu
P2860
P304
P356
10.1002/HUMU.22807
P577
2015-05-20T00:00:00Z