Connexin43 mutations linked to skin disease have augmented hemichannel activity
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Title
Connexin43 mutations linked to skin disease have augmented hemichannel activity
Authors
Keywords
-
Journal
Scientific Reports
Volume 9, Issue 1, Pages -
Publisher
Springer Nature
Online
2019-01-04
DOI
10.1038/s41598-018-37221-2
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Related references
Note: Only part of the references are listed.- Human diseases associated with connexin mutations
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- Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
- (2015) Lynn M. Boyden et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Keratitis-Ichthyosis-Deafness Syndrome-Associated Cx26 Mutants Produce Nonfunctional Gap Junctions but Hyperactive Hemichannels When Co-Expressed With Wild Type Cx43
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- Diseases associated with leaky hemichannels
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- Mechanisms linking connexin mutations to human diseases
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- Syndromic and non-syndromic disease-linked Cx43 mutations
- (2014) Dale W. Laird FEBS LETTERS
- Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome
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- Activation, Permeability, and Inhibition of Astrocytic and Neuronal Large Pore (Hemi)channels
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- Connexin 46 (Cx46) Gap Junctions Provide a Pathway for the Delivery of Glutathione to the Lens Nucleus
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- Palmoplantar keratosis in oculodentodigital dysplasia with aGJA1point mutation out of the C-terminal region of connexin 43
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- The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity
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- Cyclic nucleotide permeability through unopposed connexin hemichannels
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- Connexin26 deafness associated mutations show altered permeability to large cationic molecules
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- Gap Junction Channels Exhibit Connexin-specific Permeability to Cyclic Nucleotides
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- Connexin Mutations Causing Skin Disease and Deafness Increase Hemichannel Activity and Cell Death when Expressed in Xenopus Oocytes
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- Connexin 43 Hemichannels Are Permeable to ATP
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