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Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3365

2023

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Building the mammalian heart from two sources of myocardial cells

Nature reviews. Genetics, 2005-11, Vol.6 (11), p.826-837

2005

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Direct Isolation of Satellite Cells for Skeletal Muscle Regeneration

Science (American Association for the Advancement of Science), 2005-09, Vol.309 (5743), p.2064-2067

2005

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Krox20 defines a subpopulation of cardiac neural crest cells contributing to arterial valves and bicuspid aortic valve

Development (Cambridge), 2018-01, Vol.145 (1), p.dev151944-dev151944

2018

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Pax3 and Pax7 have distinct and overlapping functions in adult muscle progenitor cells

The Journal of cell biology, 2006-01, Vol.172 (1), p.91-102

2006

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Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis

Nature communications, 2019-04, Vol.10 (1), p.1929-1929, Article 1929

2019

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Transcriptome analysis of mouse and human sinoatrial node cells reveals a conserved genetic program

Development (Cambridge), 2019-01, Vol.146 (8)

2019

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Rotation of the Myocardial Wall of the Outflow Tract Is Implicated in the Normal Positioning of the Great Arteries

Circulation research, 2006-02, Vol.98 (3), p.421-428

2006

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Fibroblast growth factor 10 gene regulation in the second heart field by Tbx1, Nkx2-5, and Islet1 reveals a genetic switch for down-regulation in the myocardium

Proceedings of the National Academy of Sciences - PNAS, 2012-11, Vol.109 (45), p.18273-18280

2012

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Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations

Development (Cambridge), 2016-02, Vol.143 (4), p.582-588

2016

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Retinoic acid deficiency alters second heart field formation

Proceedings of the National Academy of Sciences - PNAS, 2008-02, Vol.105 (8), p.2913-2918

2008

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Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants

International journal of molecular sciences, 2022-05, Vol.23 (9), p.5205

2022

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Decreased Levels of Embryonic Retinoic Acid Synthesis Accelerate Recovery From Arterial Growth Delay in a Mouse Model of DiGeorge Syndrome

Circulation research, 2010-03, Vol.106 (4), p.686-694

2010

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Mechanisms of retinoic acid signaling during cardiogenesis

Mechanisms of development, 2017-02, Vol.143, p.9-19

2017

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Hox Genes in Cardiovascular Development and Diseases

Journal of Developmental Biology, 2016-03, Vol.4 (2), p.14

2016

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Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD

Journal of translational medicine, 2023-02, Vol.21 (1), p.160-160, Article 160

2023

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SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse

International journal of molecular sciences, 2022-11, Vol.23 (22), p.14447

2022

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Outflow Tract Formation-Embryonic Origins of Conotruncal Congenital Heart Disease

Journal of cardiovascular development and disease, 2021-04, Vol.8 (4), p.42

2021

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Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

Nature communications, 2023-03, Vol.14 (1), p.1543-1543, Article 1543

2023

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Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

Clinical case reports, 2022-02, Vol.10 (2), p.e05339-n/a

2022

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Endogenous retinoic acid regulates cardiac progenitor differentiation

Proceedings of the National Academy of Sciences - PNAS, 2010-05, Vol.107 (20), p.9234-9239

2010

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Krox20 Regulates Endothelial Nitric Oxide Signaling in Aortic Valve Development and Disease

Journal of cardiovascular development and disease, 2019-11, Vol.6 (4), p.39

2019

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Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy

Molecular genetics & genomic medicine, 2024-06, Vol.12 (6), p.e2486-n/a

2024

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Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

Molecular genetics & genomic medicine, 2022-07, Vol.10 (7), p.e1954-n/a

2022

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Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy

Building the mammalian heart from two sources of myocardial cells

Direct Isolation of Satellite Cells for Skeletal Muscle Regeneration

Krox20 defines a subpopulation of cardiac neural crest cells contributing to arterial valves and bicuspid aortic valve

Pax3 and Pax7 have distinct and overlapping functions in adult muscle progenitor cells

Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis

Transcriptome analysis of mouse and human sinoatrial node cells reveals a conserved genetic program

Rotation of the Myocardial Wall of the Outflow Tract Is Implicated in the Normal Positioning of the Great Arteries

Fibroblast growth factor 10 gene regulation in the second heart field by Tbx1, Nkx2-5, and Islet1 reveals a genetic switch for down-regulation in the myocardium

Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations

Retinoic acid deficiency alters second heart field formation

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants

Decreased Levels of Embryonic Retinoic Acid Synthesis Accelerate Recovery From Arterial Growth Delay in a Mouse Model of DiGeorge Syndrome

Mechanisms of retinoic acid signaling during cardiogenesis

Hox Genes in Cardiovascular Development and Diseases

Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD

SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse

Outflow Tract Formation-Embryonic Origins of Conotruncal Congenital Heart Disease

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

Endogenous retinoic acid regulates cardiac progenitor differentiation

Krox20 Regulates Endothelial Nitric Oxide Signaling in Aortic Valve Development and Disease

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy

An Nkx2-5/Bmp2/Smad1 Negative Feedback Loop Controls Heart Progenitor Specification and Proliferation

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

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