Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect.
about
Molecular pathogenesis of long QT syndrome type 1Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant mannerClinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.
P2860
Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect.
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2004 nî lūn-bûn
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2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2004年の論文
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2004年論文
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2004年論文
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2004年論文
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2004年論文
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2004年論文
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2004年论文
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name
Truncated KCNQ1 mutant, A178fs ...... ion due to trafficking defect.
@ast
Truncated KCNQ1 mutant, A178fs ...... ion due to trafficking defect.
@en
type
label
Truncated KCNQ1 mutant, A178fs ...... ion due to trafficking defect.
@ast
Truncated KCNQ1 mutant, A178fs ...... ion due to trafficking defect.
@en
prefLabel
Truncated KCNQ1 mutant, A178fs ...... ion due to trafficking defect.
@ast
Truncated KCNQ1 mutant, A178fs ...... ion due to trafficking defect.
@en
P2093
P2860
P1433
P1476
Truncated KCNQ1 mutant, A178fs ...... ion due to trafficking defect.
@en
P2093
Akinori Kimura
Kazuo Ueda
Long-Mei Wu
Masaaki Ohta
Masayasu Hiraoka
Megumi Takahashi
Michio Yasunami
Natsuko Inagaki
Seiko Kawano
Takeharu Hayashi
P2860
P304
P356
10.1016/J.FEBSLET.2004.08.018
P407
P577
2004-09-01T00:00:00Z