Homozygous SLC2A9 mutations cause severe renal hypouricemia

…, MR Millar, AF Wright, EJ Holtzman - Journal of the …, 2010 - journals.lww.com
Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter
URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is …

A heterotrimeric G protein, G alpha i-3, on Golgi membranes regulates the secretion of a heparan sulfate proteoglycan in LLC-PK1 epithelial cells.

…, JB De Almeida, N Narula, EJ Holtzman… - The Journal of cell …, 1991 - rupress.org
A heterotrimeric G alpha i subunit, alpha i-3, is localized on Golgi membranes in LLC-PK1
and NRK epithelial cells where it colocalizes with mannosidase II by immunofluorescence. …

cAMP motifs regulating transcription in the aquaporin 2 gene

S Hozawa, EJ Holtzman… - American Journal of …, 1996 - journals.physiology.org
Genomic clones including the 5' flanking regions of the AQP2 (aquaporin 2) gene were
isolated, and the promoter region was examined by transiently transfecting a promoter-luciferase …

Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 …

…, M Mouallem, R Pauzner, EJ Holtzman… - The Journal of …, 2004 - academic.oup.com
Familial hyperkalemia and hypertension (FHH; pseudohypoaldosteronism type II) is an
autosomal dominant disorder characterized by hyperkalemia, hypertension, and low renin. …

High normal uric acid levels are associated with an increased risk of diabetes in lean, normoglycemic healthy women

…, D Dinour, M Leiba, G Twig, EJ Holtzman… - The Journal of …, 2016 - academic.oup.com
Context: The risk associated with serum uric acid (SUA) levels within the normal range is
unknown, especially among lean and apparently healthy adults. Objective: Evaluating whether …

Uric acid levels within the normal range predict increased risk of hypertension: a cohort study

A Leiba, S Vinker, D Dinour, EJ Holtzman… - Journal of the American …, 2015 - Elsevier
There are data describing that cardiovascular risks related to serum uric acid (SUA) levels
may begin below the current diagnostic level for hyperuricemia. Values from 5.2 to 6.0 mg/dL …

URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews

…, L Ganon, R Ron, O Geifman-Holtzman… - Nephrology Dialysis …, 2011 - academic.oup.com
Background . Hereditary renal hypouricemia may be complicated by nephrolithiasis or
exercise-induced acute renal failure. Most patients described so far are of Japanese origin and …

Cyclosporine metabolic side effects: association with the WNK4 system

…, H Mayan, S Uchida, EJ Holtzman… - European journal of …, 2011 - Wiley Online Library
Eur J Clin Invest 2011; 41 (10): 1113–1120 Abstract Background Cyclosporine is used for
treatment of transplanted patients and for immune‐mediated diseases. Cyclosporine is known …

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2

…, D Landau, AF Wright, EJ Holtzman - Nephrology dialysis …, 2012 - academic.oup.com
Background. Elevated serum uric acid (UA) is associated with gout, hypertension,
cardiovascular and renal disease. Hereditary renal hypouricemia type 1 (RHUC1) is caused by …

Enhanced risk of coronary heart disease mortality in lean hypertensive men.

U Goldbourt, E Holtzman, L Cohen-Mandelzweig… - …, 1987 - Am Heart Assoc
A recently presented hypothesis contends that the excess coronary heart disease mortality
associated with hypertension is more prominent in lean men than in overweight men. This …