Human Hypertension Caused by Mutations in WNK Kinases

Frederick H. Wilson, Sandra Disse-Nicodème, Keith A. Choate, +16

Science

Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

David B. Simon, Carol Nelson‐Williams, Margaret J. Bia, +10

Nature Genetics

PhysiologyPathologyHypokalaemic AlkalosisMedicinePotassium Homeostasis +1

Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg ²⁺ Resorption

David B. Simon, Yin Lu, Keith A. Choate, +11

Science

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2

David B. Simon, Fiona E. Karet, Jahed M. Hamdan, +3

Nature Genetics

Na–k–2ci Cotransporter Nkcc2Electrolyte DisorderSodium HomeostasisMedicinePhysiology +5

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

David B. Simon, Ranjit S. Bindra, Traci A. Mansfield, +17

Nature Genetics

ChannelopathiesGenetic DisorderChloride Channel GeneGeneticsPathogenesis +5

Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK

David B. Simon, Fiona E. Karet, Juan Rodríguez‐Soriano, +5

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsPathologyK+ Channel +5

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Weizhen Ji, Jia Nee Foo, Brian J. O’Roak, +7

Nature Genetics

BiologyAllelic VariantRenal SaltGenetic DisorderGenetics +8

Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life

Dinna N. Cruz, Andrea J. Shaer, Margaret J. Bia, +2

Kidney International

Quality Of LifePsychopathologyPsychiatryHealth-related Quality

Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21

Traci A. Mansfield, David B. Simon, Zvi Farfel, +10

Nature Genetics

HypertensionMendelian DisorderPseudohypoaldosteronism Type IiCytogeneticsGenetic Disorder +9

Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans

Dinna N. Cruz, David B. Simon, Carol Nelson‐Williams, +5

Hypertension

HypertensionElectrolyte DisorderFamily MembersGeneticsGenetic Epidemiology +18