Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano–Ward syndrome
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Summary
It is demonstrated that by definition, none of the JLNS mutants have impaired membrane trafficking, trapped in the endoplasmic reticulum (ER) and Cis-Golgi and the RWS mutants exhibited varied functional phenotypes, however, they can be summed up as exhibiting DN effects.
- Type
- article
- Published
- 2015-02-06
- Cited by
- 12
- References
- 70
- Access
- Open access
- OpenAlex
- https://openalex.org/W25705178
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:12425068
Keywords
Political science
References
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Cited by
- Molecular pathogenesis of long QT syndrome type 1
- Chapter Five - Ubiquitination of Ion Channels and Transporters.
- A comprehensive structural model for the human KCNQ1/KCNE1 ion channel.
- Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation
- Kv2.1 voltage‐gated potassium channels in developmental perspective
- Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome
- Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation
- Association of the P441L KCNQ1 variant with severity of long QT syndrome and risk of cardiac events
- Long QT syndrome‐associated calmodulin variants disrupt the activity of the slowly activating delayed rectifier potassium channel
- Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients
- Elucidation of the zinc binding site in KCNQ channels
- Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange–Nielsen syndrome
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