Literature DB >> 31324123

Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside.

Dan Han1,2, Xiaolin Xue1, Yang Yan2, Guoliang Li1.   

Abstract

Entities:  

Keywords:  CACNA1C gene; Cav1.2; Timothy syndrome; cellar mechanism; disease model; mexiletine

Mesh：

Substances：

Year:  2019        PMID： 31324123      PMCID： PMC6879774          DOI： 10.1177/1535370219863149

Source DB:  PubMed          Journal:  Exp Biol Med (Maywood)        ISSN： 1535-3699


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  102 in total

1.  Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.

Authors:  Andrew P Landstrom; Nicole J Boczek; Dan Ye; Christina Y Miyake; Caridad M De la Uz; Hugh D Allen; Michael J Ackerman; Jeffrey J Kim
Journal:  Int J Cardiol       Date:  2016-06-23       Impact factor: 4.164

2.  Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

Authors:  Jane Gillis; Elena Burashnikov; Charles Antzelevitch; Susan Blaser; Gil Gross; Lesley Turner; Riyana Babul-Hirji; David Chitayat
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

Review 3.  Rare Cause of Infranodal Block.

Authors:  Anwer A Dhala; Anoop K Singh
Journal:  Card Electrophysiol Clin       Date:  2016-12

4.  Ca2+/calmodulin-dependent protein kinase modulates cardiac ryanodine receptor phosphorylation and sarcoplasmic reticulum Ca2+ leak in heart failure.

Authors:  Xun Ai; Jerry W Curran; Thomas R Shannon; Donald M Bers; Steven M Pogwizd
Journal:  Circ Res       Date:  2005-11-03       Impact factor: 17.367

Review 5.  Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.

Authors:  Yuanfeng Gao; Xiaolin Xue; Dayi Hu; Wenling Liu; Yue Yuan; Hongmei Sun; Lei Li; Katherine W Timothy; Li Zhang; Cuilan Li; Gan-Xin Yan
Journal:  Circ Arrhythm Electrophysiol       Date:  2013-04-11

6.  Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.

Authors:  Nicole J Boczek; Dan Ye; Fang Jin; David J Tester; April Huseby; J Martijn Bos; Aaron J Johnson; Ronald Kanter; Michael J Ackerman
Journal:  Circ Arrhythm Electrophysiol       Date:  2015-08-07

7.  Depletion of Stercobilin in Fecal Matter from a Mouse Model of Autism Spectrum Disorders.

Authors:  Emily R Sekera; Heather L Rudolph; Stephen D Carro; Michael J Morales; Glenna C L Bett; Randall L Rasmusson; Troy D Wood
Journal:  Metabolomics       Date:  2017-10-03       Impact factor: 4.290

8.  A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain.

Authors:  E S Gershon; K Grennan; J Busnello; J A Badner; F Ovsiew; S Memon; N Alliey-Rodriguez; J Cooper; B Romanos; C Liu
Journal:  Mol Psychiatry       Date:  2013-08-27       Impact factor: 15.992

9.  Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.

Authors:  Ivy E Dick; Rosy Joshi-Mukherjee; Wanjun Yang; David T Yue
Journal:  Nat Commun       Date:  2016-01-29       Impact factor: 14.919

10.  A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8).

Authors:  Yakup Ergül; İsa Özyılmaz; Sertaç Haydın; Alper Güzeltaş; Volkan Tuzcu
Journal:  Anatol J Cardiol       Date:  2015-08       Impact factor: 1.596
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  5 in total

1.  Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.

Authors:  Sadegheh Haghshenas; Michael A Levy; Jennifer Kerkhof; Erfan Aref-Eshghi; Haley McConkey; Tugce Balci; Victoria Mok Siu; Cindy D Skinner; Roger E Stevenson; Bekim Sadikovic; Charles Schwartz
Journal:  Int J Mol Sci       Date:  2021-01-23       Impact factor: 5.923

2.  Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation.

Authors:  Ahmed A Nugud; Nermeen Mahmoud ELkholy; Awad Alkarim Omar; Abid Qazi; Christos Tzivinikos; Nidheesh Chencheri; Sabina Khan; Muhammad Eyad Ba'Ath
Journal:  Front Pediatr       Date:  2021-04-27       Impact factor: 3.418

Review 3.  Update on the Molecular Genetics of Timothy Syndrome.

Authors:  Rosemary Bauer; Katherine W Timothy; Andy Golden
Journal:  Front Pediatr       Date:  2021-05-17       Impact factor: 3.418

4.  L-type channel inactivation balances the increased peak calcium current due to absence of Rad in cardiomyocytes.

Authors:  Brooke M Ahern; Andrea Sebastian; Bryana M Levitan; Jensen Goh; Douglas A Andres; Jonathan Satin
Journal:  J Gen Physiol       Date:  2021-07-16       Impact factor: 4.086

Review 5.  The Oxidative Balance Orchestrates the Main Keystones of the Functional Activity of Cardiomyocytes.

Authors:  Michele Bevere; Caterina Morabito; Maria A Mariggiò; Simone Guarnieri
Journal:  Oxid Med Cell Longev       Date:  2022-01-10       Impact factor: 6.543
  5 in total

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