Detection of mutations inKLHL3andCUL3in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

The CUL3–KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction

(2013) Akihito Ohta et al.   BIOCHEMICAL JOURNAL

Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

(2013) Xinzhong Li et al.   PLoS One

Paralogous annotation of disease-causing variants in long QT syndrome genes

(2012) James S. Ware et al.   HUMAN MUTATION

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

(2012) Lynn M. Boyden et al.   NATURE

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

(2012) Hélène Louis-Dit-Picard et al.   NATURE GENETICS

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The activity of the thiazide-sensitive Na+–Cl– cotransporter is regulated by protein phosphatase PP4

(2010) Mark Glover et al.   CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY

Hypertension, Dietary Salt Intake, and the Role of the Thiazide-Sensitive Sodium Chloride Transporter NCCT

(2010) Mark Glover et al.   Cardiovascular Therapeutics

On the bumpy road towards ‘personalized medicine’

(2009) Uta Francke   EMBO Molecular Medicine

Renal and Brain Isoforms of WNK3 Have Opposite Effects on NCCT Expression

(2009) M. Glover et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY