ULLRICH, KARL J., BODIL SCHMIDT-NIELSEN, ROBERTA O’DELL, GUNDULA PEHLING, CARL W. GOTTSCHALK, WILLIAM E. LASSITER, AND MARGARET MYLLE. Micropuncture study of composition of proximal and distal tubular @id in rat kidney. Am. J. Physiol. 204(4) : 527-531. I 963.~Fluid was collected by micropuncture from proximal and distal convolutions of anesthetized rats and analyzed for inulin, sodium, urea, a...

The " no-go " theorem of Nielsen and Ninomiya has been the most tenacious obstacle against the construction of a chiral gauge theory with reasonable low energy spectrum, couplings and anomaly. In this paper we construct a model which supplements the usual (bilinear in the Fermi fields) lagrangian with quadrilinear fermionic terms. We show that in a certain region of the parameter space the diff...

Objectives Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. ...

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive cardioauditory ion channel disorder characterized by congenital bilateral sensorineural deafness and long QT interval. JLNS is a ventricular repolarization abnormality and is caused by mutations in the KCNQ1 or KCNE1 gene. It has a high mortality rate in childhood due to ventricular tachyarrhythmias, episodes of torsade de poin...

BACKGROUND Long-QT (LQT) syndrome is a cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. Heterozygous mutations in 3 potassium channel genes, KVLQT1, KCNE1 (minK), and HERG, and...

The Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterized by congenital deafness and cardiac phenotype (QT prolongation, ventricular arrhythmias, and sudden death). JLNS has been shown to occur due to homozygous mutation in KCNQ1 or KCNE1. There have been a few clinical case reports on JLNS in Korea; however, these were not confirmed by a genetic study. We i...

Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among the main, known LQTS-associated genes. Here, we describe a 14-month-old Korean boy with congenital hearing loss and prolonged QT interval whose condition was clinically diagnosed as Jervell and Lange-Niels...

AIMS To explore the national prevalence, mutation spectrum, cardiac phenotype, and outcome of the uncommon Jervell and Lange-Nielsen syndrome (JLNS), associated with a high risk of sudden cardiac death. METHODS AND RESULTS A national inventory of clinical JLNS cases was performed. Genotype and area of origin were ascertained in index families. Retrospective clinical data were collected from m...