نتایج جستجو برای: jervell and lange nielsen syndrome

تعداد نتایج: 16945764  

2008
S. B. Gudnason

We study topological Chern-Simons vortices in 2 + 1 dimensions and show that in the large magnetic flux limit, they are well described by a ChernSimons domain wall, which has been compactified on a circle with the symmetric phase inside and the asymmetric phase on the outside. Next, we study a generic renormalizable potential, thus non-BPS vortices, and find similar behaviors compared with the ...

Journal: :Circulation 1998
P Duggal M R Vesely D Wattanasirichaigoon J Villafane V Kaushik A H Beggs

BACKGROUND Long-QT syndrome (LQTS) is a disorder of ventricular repolarization characterized by a prolonged QT interval, syncope, seizures, and sudden death. Recently, three forms of LQTS have been shown to result from mutations in potassium or sodium ion channel genes: KVLQT1 for LQT1, HERG for LQT2, and SCN5A for LQT3. IsK, an apparent potassium channel subunit encoded by KCNE1 on chromosome ...

2011
Xin Liu Michael Dobbie Rob Tunningley Belinda Whittle Yafei Zhang Lars M. Ittner Jürgen Götz

Modifier screening is a powerful genetic tool. While not widely used in the vertebrate system, we applied these tools to transgenic mouse strains that recapitulate key aspects of Alzheimer's disease (AD), such as tau-expressing mice. These are characterized by a robust pathology including both motor and memory impairment. The phenotype can be modulated by ENU mutagenesis, which results in novel...

2000
Christophe Chouabe Nathalie Neyroud Georges Romey Pascale Guicheney Jacques Barhanin

Objectives: We report the functional expression of four KCNQ1 mutations affecting arginine residues and resulting in Romano–Ward (RW) and the Jervell and Lange–Nielsen (JLN) congenital long QT syndromes. Results: The R539W and R190Q mutations were found in typical RW families with an autosomal dominant transmission. The R243H mutation was found in a compound heterozygous JLN patient who present...

Journal: :Human molecular genetics 1998
T D Gould K Pfeifer

Mouse distal chromosome 7 contains a cluster of at least five imprinted genes. The syntenic region in humans, at 11p15.5, has been implicated in several genetic disorders. Consistent with the imprinted status of the genes in the region, Beckwith-Wiedemann syndrome (BWS) and Wilms tumor are each associated with loss of maternal information. Also mapping to 11p15.5 are long QT and Jervell and Lan...

2010
Ryan Martin Jing-Shiang Hwang Chuanhai Liu

As applied problems have grown more complex, statisticians have been gradually led to reconsider the foundations of statistical inference. The recently proposed inferential model (IM) framework of Martin, Zhang and Liu (2010) achieves an interesting compromise between the Bayesian and frequentist ideals. Indeed, inference is based on posterior probability-like quantities, but there are no prior...

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