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Fiona E. Karet | doi.page

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Fiona E. Karet

University of Cambridge(GB)

Publications by Year

Research Areas

Ion Transport and Channel Regulation, ATP Synthase and ATPases Research, Renal function and acid-base balance, Nitric Oxide and Endothelin Effects, Mitochondrial Function and Pathology

Most-Cited Works

→ Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter(1996)1,209 cited
→ Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2(1996)900 cited
→ Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK(1996)820 cited
→ Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness(1999)684 cited
→ Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities(2012)626 cited
→ Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing(2000)415 cited

→ Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference(2016)

352 cited

→ Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome(2004)339 cited

→ Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism(2005)287 cited

→ Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis(1998)271 cited