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Literature DB >> 25791106

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

Yanwei Xi¹, Christina Honeywell², Dapeng Zhang³, Jeremy Schwartzentruber⁴, Chandree L Beaulieu², Martine Tetreault⁵, Taila Hartley², Jennifer Marton⁶, Silvia M Vidal⁶, Jacek Majewski⁵, L Aravind³, Michael Gollob⁷, Kym M Boycott⁸, Robert M Gow⁹.

Abstract

Entities: Chemical Disease Gene Mutation Species

Keywords: Exome sequencing; Junctional ectopic tachycardia; TNNI3K

Mesh：

Substances：

Year: 2015 PMID： 25791106 PMCID： PMC5938092 DOI： 10.1016/j.ijcard.2015.03.130

Source DB: PubMed Journal: Int J Cardiol ISSN： 0167-5273 Impact factor: 4.164

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9 in total

1. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Authors: Myriam Srour; Maria Lisa Putorti; Jeremy Schwartzentruber; Véronique Bolduc; Michael Israel Shevell; Chantal Poulin; Erin O'ferrall; Daniela Buhas; Jacek Majewski; Bernard Brais
Journal: Muscle Nerve Date: 2014-09-16 Impact factor: 3.217

2. TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Authors: Jeanne L Theis; Michael T Zimmermann; Brandon T Larsen; Inna N Rybakova; Pamela A Long; Jared M Evans; Sumit Middha; Mariza de Andrade; Richard L Moss; Eric D Wieben; Virginia V Michels; Timothy M Olson
Journal: Hum Mol Genet Date: 2014-06-11 Impact factor: 6.150

3. Controlling the activity of the Tec kinase Itk by mutation of the phenylalanine gatekeeper residue.

Authors: Raji E Joseph; Amy H Andreotti
Journal: Biochemistry Date: 2010-12-16 Impact factor: 3.162

Review 4. Evolving concepts in the management of congenital junctional ectopic tachycardia. A multicenter study.

Authors: E Villain; V L Vetter; J M Garcia; J Herre; A Cifarelli; A Garson
Journal: Circulation Date: 1990-05 Impact factor: 29.690

5. Junctional ectopic tachycardia evolving into complete heart block.

Authors: H Henneveld; P Hutter; M Bink-Boelkens; N Sreeram
Journal: Heart Date: 1998-12 Impact factor: 5.994

6. Conversion of SB 203580-insensitive MAP kinase family members to drug-sensitive forms by a single amino-acid substitution.

Authors: P A Eyers; M Craxton; N Morrice; P Cohen; M Goedert
Journal: Chem Biol Date: 1998-06

7. Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction.

Authors: Elisabeth M Lodder; Brendon P Scicluna; Annalisa Milano; Albert Y Sun; Hao Tang; Carol Ann Remme; Perry D Moerland; Michael W T Tanck; Geoffrey S Pitt; Douglas A Marchuk; Connie R Bezzina
Journal: PLoS Genet Date: 2012-12-06 Impact factor: 5.917

8. Tnni3k modifies disease progression in murine models of cardiomyopathy.

Authors: Ferrin C Wheeler; Hao Tang; Odessa A Marks; Tracy N Hadnott; Pei-Lun Chu; Lan Mao; Howard A Rockman; Douglas A Marchuk
Journal: PLoS Genet Date: 2009-09-18 Impact factor: 5.917

9. Activation of tyrosine kinases by mutation of the gatekeeper threonine.

Authors: Mohammad Azam; Markus A Seeliger; Nathanael S Gray; John Kuriyan; George Q Daley
Journal: Nat Struct Mol Biol Date: 2008-09-14 Impact factor: 15.369

9 in total

10 in total

1. Frequency of mononuclear diploid cardiomyocytes underlies natural variation in heart regeneration.

Authors: Michaela Patterson; Lindsey Barske; Ben Van Handel; Christoph D Rau; Peiheng Gan; Avneesh Sharma; Shan Parikh; Matt Denholtz; Ying Huang; Yukiko Yamaguchi; Hua Shen; Hooman Allayee; J Gage Crump; Thomas I Force; Ching-Ling Lien; Takako Makita; Aldons J Lusis; S Ram Kumar; Henry M Sucov
Journal: Nat Genet Date: 2017-08-07 Impact factor: 38.330

2. The prevalent I686T human variant and loss-of-function mutations in the cardiomyocyte-specific kinase gene TNNI3K cause adverse contractility and concentric remodeling in mice.

Authors: Peiheng Gan; Catalin Baicu; Hirofumi Watanabe; Kristy Wang; Ge Tao; Daniel P Judge; Michael R Zile; Takako Makita; Rupak Mukherjee; Henry M Sucov
Journal: Hum Mol Genet Date: 2021-01-06 Impact factor: 6.150

10. Whole-Exome Sequencing Identifies a Novel Variant (c.1538T > C) of TNNI3K in Arrhythmogenic Right Ventricular Cardiomyopathy.

Authors: Ting Xie; Yifeng Yang; Ke Gong; Yong Luo; Hui Guo; Ruilin Liu; Lei Wang; Zhiping Tan; Jinwen Luo; Li Xie
Journal: Front Cardiovasc Med Date: 2022-02-22

10 in total

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

1. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

2. TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

3. Controlling the activity of the Tec kinase Itk by mutation of the phenylalanine gatekeeper residue.

Review 4. Evolving concepts in the management of congenital junctional ectopic tachycardia. A multicenter study.

5. Junctional ectopic tachycardia evolving into complete heart block.

6. Conversion of SB 203580-insensitive MAP kinase family members to drug-sensitive forms by a single amino-acid substitution.

7. Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction.

8. Tnni3k modifies disease progression in murine models of cardiomyopathy.

9. Activation of tyrosine kinases by mutation of the gatekeeper threonine.

1. Frequency of mononuclear diploid cardiomyocytes underlies natural variation in heart regeneration.

2. The prevalent I686T human variant and loss-of-function mutations in the cardiomyocyte-specific kinase gene TNNI3K cause adverse contractility and concentric remodeling in mice.

3. Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

4. A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.

5. Ivabradine monotherapy in congenital junctional ectopic tachycardia.

Review 6. The Diverse Roles of TNNI3K in Cardiac Disease and Potential for Treatment.

7. Prenatal diagnosis and management of junctional ectopic tachycardia.

8. Tnni3k alleles influence ventricular mononuclear diploid cardiomyocyte frequency.

Review 9. The Role of POPDC Proteins in Cardiac Pacemaking and Conduction.

10. Whole-Exome Sequencing Identifies a Novel Variant (c.1538T > C) of TNNI3K in Arrhythmogenic Right Ventricular Cardiomyopathy.