These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 37446101)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13.
    Pollini L; Galosi S; Tolve M; Caputi C; Carducci C; Angeloni A; Leuzzi V
    Int J Mol Sci; 2020 Aug; 21(16):. PubMed ID: 32823520
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.
    Contaldi E; Gallo S; Corrado L; D'Alfonso S; Magistrelli L
    Cerebellum; 2024 Jun; 23(3):1226-1230. PubMed ID: 37857779
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.
    Avila-Jaque D; Martin F; Bustamante ML; Luna Álvarez M; Fernández JM; Dávila Ortiz de Montellano DJ; Pardo R; Varela D; Miranda M
    Cerebellum; 2024 Aug; 23(4):1727-1732. PubMed ID: 38180701
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.
    Li M; Liu F; Hao X; Fan Y; Li J; Hu Z; Shi J; Fan L; Zhang S; Ma D; Guo M; Xu Y; Shi C
    Front Mol Neurosci; 2022; 15():919199. PubMed ID: 35813061
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.