BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 23280838)

  • 1. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
    Duarri A; Jezierska J; Fokkens M; Meijer M; Schelhaas HJ; den Dunnen WF; van Dijk F; Verschuuren-Bemelmans C; Hageman G; van de Vlies P; Küsters B; van de Warrenburg BP; Kremer B; Wijmenga C; Sinke RJ; Swertz MA; Kampinga HH; Boddeke E; Verbeek DS
    Ann Neurol; 2012 Dec; 72(6):870-80. PubMed ID: 23280838
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in KCND3 cause spinocerebellar ataxia type 22.
    Lee YC; Durr A; Majczenko K; Huang YH; Liu YC; Lien CC; Tsai PC; Ichikawa Y; Goto J; Monin ML; Li JZ; Chung MY; Mundwiller E; Shakkottai V; Liu TT; Tesson C; Lu YC; Brice A; Tsuji S; Burmeister M; Stevanin G; Soong BW
    Ann Neurol; 2012 Dec; 72(6):859-69. PubMed ID: 23280837
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
    Duarri A; Lin MC; Fokkens MR; Meijer M; Smeets CJ; Nibbeling EA; Boddeke E; Sinke RJ; Kampinga HH; Papazian DM; Verbeek DS
    Cell Mol Life Sci; 2015 Sep; 72(17):3387-99. PubMed ID: 25854634
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel SCA19/22-associated KCND3 mutations disrupt human K
    Hsiao CT; Fu SJ; Liu YT; Lu YH; Zhong CY; Tang CY; Soong BW; Jeng CJ
    Hum Mutat; 2019 Nov; 40(11):2088-2107. PubMed ID: 31293010
    [TBL] [Abstract][Full Text] [Related]  

  • 5. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
    Smets K; Duarri A; Deconinck T; Ceulemans B; van de Warrenburg BP; Züchner S; Gonzalez MA; Schüle R; Synofzik M; Van der Aa N; De Jonghe P; Verbeek DS; Baets J
    BMC Med Genet; 2015 Jul; 16():51. PubMed ID: 26189493
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel
    Zanni G; Hsiao CT; Fu SJ; Tang CY; Capuano A; Bosco L; Graziola F; Bellacchio E; Servidei S; Primiano G; Soong BW; Jeng CJ
    Int J Mol Sci; 2021 May; 22(9):. PubMed ID: 34067185
    [No Abstract]   [Full Text] [Related]  

  • 7. A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.
    Olesen MS; Refsgaard L; Holst AG; Larsen AP; Grubb S; Haunsø S; Svendsen JH; Olesen SP; Schmitt N; Calloe K
    Cardiovasc Res; 2013 Jun; 98(3):488-95. PubMed ID: 23400760
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22.
    Pulst SM; Otis TS
    Ann Neurol; 2012 Dec; 72(6):829-31. PubMed ID: 23280833
    [No Abstract]   [Full Text] [Related]  

  • 9. An E280K Missense Variant in
    Ågren R; Geerdink N; Brunner HG; Paucar M; Kamsteeg EJ; Sahlholm K
    Int J Mol Sci; 2023 Jun; 24(13):. PubMed ID: 37446101
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.
    Paucar M; Bergendal Å; Gustavsson P; Nordenskjöld M; Laffita-Mesa J; Savitcheva I; Svenningsson P
    Cerebellum; 2018 Aug; 17(4):465-476. PubMed ID: 29527639
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Contribution of N- and C-terminal Kv4.2 channel domains to KChIP interaction [corrected].
    Callsen B; Isbrandt D; Sauter K; Hartmann LS; Pongs O; Bähring R
    J Physiol; 2005 Oct; 568(Pt 2):397-412. PubMed ID: 16096338
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.
    Singh B; Ogiwara I; Kaneda M; Tokonami N; Mazaki E; Baba K; Matsuda K; Inoue Y; Yamakawa K
    Neurobiol Dis; 2006 Nov; 24(2):245-53. PubMed ID: 16934482
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rare Gain-of-Function
    Hsiao CT; Tropea TF; Fu SJ; Bardakjian TM; Gonzalez-Alegre P; Soong BW; Tang CY; Jeng CJ
    Int J Mol Sci; 2021 Jul; 22(15):. PubMed ID: 34361012
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Inter-Regulation of K
    Clatot J; Neyroud N; Cox R; Souil C; Huang J; Guicheney P; Antzelevitch C
    Int J Mol Sci; 2020 Jul; 21(14):. PubMed ID: 32709127
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.
    Giudicessi JR; Ye D; Tester DJ; Crotti L; Mugione A; Nesterenko VV; Albertson RM; Antzelevitch C; Schwartz PJ; Ackerman MJ
    Heart Rhythm; 2011 Jul; 8(7):1024-32. PubMed ID: 21349352
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.
    Wan J; Khanna R; Sandusky M; Papazian DM; Jen JC; Baloh RW
    Neurology; 2005 Jun; 64(12):2090-7. PubMed ID: 15985579
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.
    Yao H; Fan J; Cheng YJ; Chen XM; Ji CC; Liu LJ; Zheng ZH; Wu SH
    J Cell Mol Med; 2018 Nov; 22(11):5639-5647. PubMed ID: 30160358
    [TBL] [Abstract][Full Text] [Related]  

  • 18. V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.
    Paucar M; Ågren R; Li T; Lissmats S; Bergendal Å; Weinberg J; Nilsson D; Savichetva I; Sahlholm K; Nilsson J; Svenningsson P
    Neurol Genet; 2021 Feb; 7(1):e546. PubMed ID: 33575485
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
    Kurihara M; Ishiura H; Sasaki T; Otsuka J; Hayashi T; Terao Y; Matsukawa T; Mitsui J; Kaneko J; Nishiyama K; Doi K; Yoshimura J; Morishita S; Shimizu J; Tsuji S
    Cerebellum; 2018 Apr; 17(2):237-242. PubMed ID: 28895081
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function.
    You T; Mao W; Cai B; Li F; Xu H
    Int J Mol Med; 2015 Jul; 36(1):309-15. PubMed ID: 26016905
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.