Lista de obras - Andrew P. Landstrom - Dominio Público Uruguay

A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation

article

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C

artículo científico publicado en 2020

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation

artículo científico publicado en 2012

Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise

artículo científico publicado en 2018

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

scientific article published on 16 January 2020

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

artículo científico publicado en 2019

Association of Wolff-Parkinson-White With Left Ventricular Noncompaction Cardiomyopathy in Children

scientific article published on 15 October 2019

Calcium Signaling and Cardiac Arrhythmias

artículo científico publicado en 2017

Cardiac dysregulation following intrahippocampal kainate-induced status epilepticus

artículo científico publicado en 2020

Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome

artículo científico publicado en 2018

Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy

artículo científico publicado en 2007

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

artículo científico publicado en 2019

Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice

artículo científico publicado en 2011

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

artículo científico publicado en 2011

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

artículo científico publicado en 2014

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

artículo científico publicado en 2011

Early experience with intravenous sotalol in children with and without congenital heart disease

artículo científico publicado en 2018

Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases

artículo científico publicado en 2014

GWAS or Gee Whiz, PSAS or Pshaw: elucidating the biologic and clinical significance of genetic variation in cardiovascular disease.

artículo científico publicado en 2009

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

artículo científico publicado en 2007

Hypertension Susceptibility Loci are Associated with Anthracycline-related Cardiotoxicity in Long-term Childhood Cancer Survivors

artículo científico publicado en 2017

Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.

artículo científico publicado en 2017

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation

artículo científico publicado en 2019

Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals

artículo científico publicado en 2017

Intravenous sotalol for the management of postoperative junctional ectopic tachycardia

scientific article published on 30 May 2018

It's not the heart: autonomic nervous system predisposition to lethal ventricular arrhythmias

artículo científico publicado en 2015

Junctophilin-2 at the intersection of arrhythmia and pathologic cardiac remodeling

artículo científico publicado en 2015

Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling

artículo científico publicado en 2011

Junctophilin-2 is necessary for T-tubule maturation during mouse heart development.

artículo científico publicado en 2013

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

artículo científico publicado en 2008

Molecular evolution of the junctophilin gene family

artículo científico publicado en 2009

Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.

scientific article published on 21 August 2013

Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

artículo científico publicado en 2010

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction

artículo científico publicado en 2017

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.

artículo científico publicado en 2016

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

artículo científico publicado en 2011

Philadelphia chromosome mosaicism at diagnosis in chronic myeloid leukemia: clinical correlates and effect on imatinib mesylate treatment outcome

artículo científico publicado en 2007

Reduced junctional Na+/Ca2+-exchanger activity contributes to sarcoplasmic reticulum Ca2+ leak in junctophilin-2-deficient mice.

artículo científico publicado en 2014

Risk Factors for Sudden Infant Death in North Carolina

artículo científico publicado en 2021

The Achilles’ Heel of Cardiovascular Genetic Testing: Distinguishing Pathogenic Mutations From Background Genetic Noise ⬇️

artículo científico publicado el 1 de octubre de 2011

The junctophilin family of proteins: from bench to bedside

artículo científico publicado en 2014

Utility of peripheral blood dual color, double fusion fluorescent in situ hybridization for BCR/ABL fusion to assess cytogenetic remission status in chronic myeloid leukemia

artículo científico publicado en 2006

Lista de obras de Andrew P. Landstrom

A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation

Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

Association of Wolff-Parkinson-White With Left Ventricular Noncompaction Cardiomyopathy in Children

Calcium Signaling and Cardiac Arrhythmias

Cardiac dysregulation following intrahippocampal kainate-induced status epilepticus

Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome

Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Early experience with intravenous sotalol in children with and without congenital heart disease

Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases

GWAS or Gee Whiz, PSAS or Pshaw: elucidating the biologic and clinical significance of genetic variation in cardiovascular disease.

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Hypertension Susceptibility Loci are Associated with Anthracycline-related Cardiotoxicity in Long-term Childhood Cancer Survivors

Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation

Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals

Intravenous sotalol for the management of postoperative junctional ectopic tachycardia

It's not the heart: autonomic nervous system predisposition to lethal ventricular arrhythmias

Junctophilin-2 at the intersection of arrhythmia and pathologic cardiac remodeling

Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling

Junctophilin-2 is necessary for T-tubule maturation during mouse heart development.

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

Molecular evolution of the junctophilin gene family

Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.

Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction

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.

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

Philadelphia chromosome mosaicism at diagnosis in chronic myeloid leukemia: clinical correlates and effect on imatinib mesylate treatment outcome

Reduced junctional Na+/Ca2+-exchanger activity contributes to sarcoplasmic reticulum Ca2+ leak in junctophilin-2-deficient mice.

Risk Factors for Sudden Infant Death in North Carolina

The Achilles’ Heel of Cardiovascular Genetic Testing: Distinguishing Pathogenic Mutations From Background Genetic Noise ⬇️

The junctophilin family of proteins: from bench to bedside

Utility of peripheral blood dual color, double fusion fluorescent in situ hybridization for BCR/ABL fusion to assess cytogenetic remission status in chronic myeloid leukemia