Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

(2014) Michael Christiansen et al.   BMC Medical Genetics

Cascade Screening in Families with Inherited Cardiac Diseases Driven by Cardiologists: Feasibility and Nationwide Outcome in Long QT Syndrome

(2013) Juliane Theilade et al.   CARDIOLOGY

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

(2012) Eva-Lena Stattin et al.   BMC Cardiovascular Disorders

High Prevalence of Long QT Syndrome–Associated SCN5A Variants in Patients With Early-Onset Lone Atrial Fibrillation

(2012) Morten S. Olesen et al.   Circulation-Cardiovascular Genetics

Modeling of Open, Closed, and Open-Inactivated States of the hERG1 Channel: Structural Mechanisms of the State-Dependent Drug Binding

(2012) Serdar Durdagi et al.   Journal of Chemical Information and Modeling

Changes in Channel Trafficking and Protein Stability Caused by LQT2 Mutations in the PAS Domain of the HERG Channel

(2012) Carol A. Harley et al.   PLoS One

Ion Conduction through the hERG Potassium Channel

(2012) Luisa Ceccarini et al.   PLoS One

Rescue of Aberrant Gating by a Genetically Encoded PAS (Per-Arnt-Sim) Domain in Several Long QT Syndrome Mutant HumanEther-á-go-go-related Gene Potassium Channels

(2011) Elena C. Gianulis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

hERG1a N-terminal eag domain–containing polypeptides regulate homomeric hERG1b and heteromeric hERG1a/hERG1b channels: A possible mechanism for long QT syndrome

(2011) Matthew C. Trudeau et al.   JOURNAL OF GENERAL PHYSIOLOGY

How old is this mutation? - a study of three Ashkenazi Jewish founder mutations

(2010) Celia MT Greenwood et al.   BMC GENETICS

Differential effects of Kv11.1 activators on Kv11.1a, Kv11.1b and Kv11.1a/Kv11.1b channels

(2010) AP Larsen et al.   BRITISH JOURNAL OF PHARMACOLOGY

Mechanistic Insight into Humanether-à-go-go-related Gene (hERG) K+Channel Deactivation Gating from the Solution Structure of the EAG Domain

(2010) Frederick W. Muskett et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Long QT testing: implications for complex diagnosis in personalized medicine

(2010) Michael Christiansen et al.   Personalized Medicine

Role of ERG1 isoforms in modulation of ERG1 channel trafficking and function

(2010) Anders Peter Larsen   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Founder mutations in the Netherlands

(2010) P. G. Postema et al.   Netherlands Heart Journal

Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome

(2010) N. Hofman et al.   Netherlands Heart Journal

High prevalence of four long QT syndrome founder mutations in the Finnish population

(2009) Annukka Marjamaa et al.   ANNALS OF MEDICINE

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome

(2009) Lia Crotti et al.   CIRCULATION

Structure of the pore-helix of the hERG K+ channel

(2009) Guilhem Pages et al.   EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS

Of founder populations, long QT syndrome, and destiny

(2009) Paul A. Brink et al.   HEART RHYTHM

The genetic basis of Brugada syndrome: A mutation update

(2009) Paula L. Hedley et al.   HUMAN MUTATION

The genetic basis of long QT and short QT syndromes: A mutation update

(2009) Paula L. Hedley et al.   HUMAN MUTATION

Physiological Properties of hERG 1a/1b Heteromeric Currents and a hERG 1b-Specific Mutation Associated With Long-QT Syndrome

(2008) Harinath Sale et al.   CIRCULATION RESEARCH

The Pore Domain Outer Helix Contributes to Both Activation and Inactivation of the hERG K+Channel

(2008) Pengchu Ju et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

hERG Gating Microdomains Defined by S6 Mutagenesis and Molecular Modeling

(2008) Sarah L. Wynia-Smith et al.   JOURNAL OF GENERAL PHYSIOLOGY

Long QT Syndrome

(2008) Ilan Goldenberg et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Congenital long QT syndrome

(2008) Lia Crotti et al.   Orphanet Journal of Rare Diseases