Lista de obras - Jean-Jacques Schott - Dominio Público Uruguay

14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5

artículo científico publicado en 2006

A common antitussive drug, clobutinol, precipitates the long QT syndrome 2

artículo científico publicado en 2004

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I

artículo científico publicado en 2012

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

artículo científico publicado en 2021

A genetic linkage map of the rat derived from recombinant inbred strains

scientific article published on 01 February 1996

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

artículo científico publicado en 2011

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

artículo científico publicado en 2009

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

artículo científico publicado en 2015

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

artículo científico publicado en 2003

Cardiac conduction defects associate with mutations in SCN5A

artículo científico publicado en 1999

Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the disease

artículo científico publicado en 2003

Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study

artículo científico publicado en 2011

Clinical aspects and prognosis of Brugada syndrome in children

artículo científico publicado en 2007

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

artículo científico publicado en 2013

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5 ⬇️

artículo científico publicado el 3 de julio de 1998

Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation

artículo científico publicado en 2011

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

artículo científico publicado en 2007

Developmental basis for filamin-A-associated myxomatous mitral valve disease

artículo científico publicado en 2012

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

artículo científico publicado en 2017

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

artículo científico publicado en 2008

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

scientific article published on 10 June 2016

Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease

artículo científico publicado en 2008

Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis.

artículo científico publicado en 2010

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

artículo científico publicado en 2017

Familial aggregation of calcific aortic valve stenosis in the western part of France

scientific article published on 06 February 2006

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

artículo científico publicado en 2002

Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects

artículo científico publicado en 2011

Fine-scale human genetic structure in Western France

artículo científico publicado en 2014

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

artículo científico publicado en 2015

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

artículo científico publicado en 2013

Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients

artículo científico publicado en 2002

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

artículo científico publicado en 2003

Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach

scientific article published on 19 June 2012

Identification of large families in early repolarization syndrome

artículo científico publicado en 2013

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

artículo científico publicado en 2016

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

artículo científico publicado en 2012

MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions

artículo científico publicado en 2015

Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.

artículo científico publicado en 1998

Mapping of quantitative trait loci for blood pressure and cardiac mass in the rat by genome scanning of recombinant inbred strains.

artículo científico publicado en 1995

Mitral valve disease--morphology and mechanisms

artículo científico publicado en 2015

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel

artículo científico publicado en 2013

Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child.

artículo científico publicado en 2006

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

artículo científico publicado en 2012

Mutations in DCHS1 cause mitral valve prolapse

scientific journal article

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

artículo científico publicado en 2006

Novel Brugada SCN5A Mutation Leading to ST Segment Elevation in the Inferior or the Right Precordial Leads ⬇️

artículo científico publicado el 1 de febrero de 2003

Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block

scientific article published on 16 August 2012

Primary cilia defects causing mitral valve prolapse

artículo científico publicado en 2019

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

artículo científico publicado en 2017

Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation

artículo científico publicado en 2006

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

artículo científico publicado en 2009

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

artículo científico publicado en 2011

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

artículo científico publicado en 2015

Sodium channel blocker tests allow a clear distinction of electrophysiological characteristics and prognosis in patients with a type 2 or 3 Brugada electrocardiogram pattern.

artículo científico publicado en 2008

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

artículo científico publicado en 2008

TRPM4 non-selective cation channel variants in long QT syndrome

artículo científico publicado en 2017

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

artículo científico publicado en 2016

The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway

artículo científico publicado en 2017

Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition

artículo científico publicado en 2007

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

artículo científico publicado en 2008

Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation

artículo científico publicado en 2005

Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation

artículo científico publicado en 2013

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

artículo científico publicado en 2010

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

artículo científico publicado en 2016

Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block

scientific journal article

Lista de obras de Jean-Jacques Schott

14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5

A common antitussive drug, clobutinol, precipitates the long QT syndrome 2

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

A genetic linkage map of the rat derived from recombinant inbred strains

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

Cardiac conduction defects associate with mutations in SCN5A

Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the disease

Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study

Clinical aspects and prognosis of Brugada syndrome in children

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5 ⬇️

Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

Developmental basis for filamin-A-associated myxomatous mitral valve disease

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease

Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis.

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

Familial aggregation of calcific aortic valve stenosis in the western part of France

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects

Fine-scale human genetic structure in Western France

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach

Identification of large families in early repolarization syndrome

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions

Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.

Mapping of quantitative trait loci for blood pressure and cardiac mass in the rat by genome scanning of recombinant inbred strains.

Mitral valve disease--morphology and mechanisms

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel

Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child.

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

Mutations in DCHS1 cause mitral valve prolapse

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

Novel Brugada SCN5A Mutation Leading to ST Segment Elevation in the Inferior or the Right Precordial Leads ⬇️

Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block

Primary cilia defects causing mitral valve prolapse

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

Sodium channel blocker tests allow a clear distinction of electrophysiological characteristics and prognosis in patients with a type 2 or 3 Brugada electrocardiogram pattern.

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

TRPM4 non-selective cation channel variants in long QT syndrome

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway

Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation

Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block