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Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1105-1111

2013

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The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy

Nature communications, 2019-05, Vol.10 (1), p.2267-2267, Article 2267

2019

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The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype

Frontiers in physiology, 2020-07, Vol.11, p.761-761

2020

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The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders

Human reproduction update, 2014-11, Vol.20 (6), p.869-883

2014

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Toward Cardiac Regeneration: Combination of Pluripotent Stem Cell-Based Therapies and Bioengineering Strategies

Frontiers in bioengineering and biotechnology, 2020-05, Vol.8, p.455-455

2020

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Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis

EMBO molecular medicine, 2019-04, Vol.11 (4), p.n/a

2019

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Wnt signalling mediates miR-133a nuclear re-localization for the transcriptional control of Dnmt3b in cardiac cells

Scientific reports, 2019-06, Vol.9 (1), p.9320-15, Article 9320

2019

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T cell costimulation blockade blunts pressure overload-induced heart failure

Nature communications, 2017-03, Vol.8 (1), p.14680-14680, Article 14680

2017

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Optical Pacing of Human‐Induced Pluripotent Stem Cell‐Derived Cardiomyocytes Mediated by a Conjugated Polymer Interface

Advanced healthcare materials, 2019-07, Vol.8 (13), p.e1900198-n/a

2019

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Genetic Cardiomyopathies: The Lesson Learned from hiPSCs

Journal of clinical medicine, 2021-03, Vol.10 (5), p.1149

2021

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Generation of Cardiomyocytes from Pluripotent Stem Cells

Methods in molecular biology (Clifton, N.J.), 2016, Vol.1353, p.181

2016

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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Human molecular genetics, 2018-09, Vol.27 (17), p.3060-3078

2018

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Growth hormone-releasing hormone attenuates cardiac hypertrophy and improves heart function in pressure overload-induced heart failure

Proceedings of the National Academy of Sciences - PNAS, 2017-11, Vol.114 (45), p.12033-12038

2017

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Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations

Nature communications, 2022-12, Vol.13 (1), p.7886-7886, Article 7886

2022

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Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells

International journal of molecular sciences, 2023-05, Vol.24 (11), p.9548

2023

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Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics

Frontiers in cell and developmental biology, 2018-12, Vol.6, p.172-172

2018

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BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

Human mutation, 2009-05, Vol.30 (5), p.804-810

2009

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Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia

Cell death & disease, 2016-10, Vol.7 (10), p.e2393-e2393

2016

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Nongenetic Optical Modulation of Pluripotent Stem Cells Derived Cardiomyocytes Function in the Red Spectral Range

Advanced science, 2024-01, Vol.11 (3), p.e2304303-n/a

2024

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Generation of human cardiomyocytes: a differentiation protocol from feeder-free human induced pluripotent stem cells

Journal of visualized experiments, 2013-06 (76)

2013

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Optical modulation of excitation-contraction coupling in human-induced pluripotent stem cell-derived cardiomyocytes

iScience, 2023-03, Vol.26 (3), p.106121-106121, Article 106121

2023

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Positive selection in bone morphogenetic protein 15 targets a natural mutation associated with primary ovarian insufficiency in human

PloS one, 2013-10, Vol.8 (10), p.e78199

2013

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Regulation of ovulation rate in mammals: contribution of sheep genetic models

Reproductive biology and endocrinology, 2006-04, Vol.4 (1), p.20-20, Article 20

2006

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Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery–Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln

Stem cell research, 2020-08, Vol.47, p.101895-101895, Article 101895

2020

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Divergent Transcription of the Nkx2-5 Locus Generates Two Enhancer RNAs with Opposing Functions

iScience, 2020-09, Vol.23 (9), p.101539-101539, Article 101539

2020

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Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy

The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype

The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders

Toward Cardiac Regeneration: Combination of Pluripotent Stem Cell-Based Therapies and Bioengineering Strategies

Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis

Wnt signalling mediates miR-133a nuclear re-localization for the transcriptional control of Dnmt3b in cardiac cells

T cell costimulation blockade blunts pressure overload-induced heart failure

Optical Pacing of Human‐Induced Pluripotent Stem Cell‐Derived Cardiomyocytes Mediated by a Conjugated Polymer Interface

Genetic Cardiomyopathies: The Lesson Learned from hiPSCs

Generation of Cardiomyocytes from Pluripotent Stem Cells

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Growth hormone-releasing hormone attenuates cardiac hypertrophy and improves heart function in pressure overload-induced heart failure

Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations

Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells

Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia

Nongenetic Optical Modulation of Pluripotent Stem Cells Derived Cardiomyocytes Function in the Red Spectral Range

Generation of human cardiomyocytes: a differentiation protocol from feeder-free human induced pluripotent stem cells

Optical modulation of excitation-contraction coupling in human-induced pluripotent stem cell-derived cardiomyocytes

Positive selection in bone morphogenetic protein 15 targets a natural mutation associated with primary ovarian insufficiency in human

Regulation of ovulation rate in mammals: contribution of sheep genetic models

Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery–Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln

Divergent Transcription of the Nkx2-5 Locus Generates Two Enhancer RNAs with Opposing Functions

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