نتایج جستجو برای: familial dysautonomia

تعداد نتایج: 56514  

Journal: :PLoS ONE 2008
Mariya M. Kucherenko Mario Pantoja Andriy S. Yatsenko Halyna R. Shcherbata Karin A. Fischer Dariya V. Maksymiv Yaroslava I. Chernyk Hannele Ruohola-Baker

The Dystroglycan-Dystrophin (Dg-Dys) complex has a capacity to transmit information from the extracellular matrix to the cytoskeleton inside the cell. It is proposed that this interaction is under tight regulation; however the signaling/regulatory components of Dg-Dys complex remain elusive. Understanding the regulation of the complex is critical since defects in this complex cause muscular dys...

Journal: :The American journal of physiology 1999
M J Hilz B Stemper P Sauer U Haertl W Singer F B Axelrod

In familial dysautonomia (FD), i.e., Riley-Day syndrome, parasympathetic dysfunction has not been sufficiently evaluated. The cold face test is a noninvasive method of activating trigeminal brain stem cardiovagal and sympathetic pathways and can be performed in patients with limited cooperation. We performed cold face tests in 11 FD patients and 15 controls. For 60 s, cold compresses (0-1 degre...

Journal: :Clinical science 2003
Brigitte Stemper Felicia B Axelrod Harald Marthol Clive Brown Miroslav Brys Goetz Welsch Max J Hilz

Patients with familial dysautonomia (FD) exhibit orthostatic hypotension as well as recumbent hypertension. In addition, during dysautonomic crises, patients have hypertensive blood pressure that is presumed to be secondary to episodic vasoconstriction, as well as swollen hands that are presumed to be secondary to vasodilatation. This discrepancy in vascular control is poorly understood, yet ma...

Journal: :American journal of human genetics 2001
S L Anderson R Coli I W Daly E A Kichula M J Rork S A Volpi J Ekstein B Y Rubin

The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded identification. We identified and characterized the RNAs encoded by this region of chromosome 9 in cell lines derived from individuals homozygous for the major FD haplotype, and we observed that the RNA encoding the IkappaB kinase complex-associated p...

2008
A. S. Evans J. A. Surace

The first detection of CO emission in a Fanaroff-Riley Class II (i.e., edge-brightened radio morphology) radio galaxy is presented. Multiwavelength (0.36-2.17 μm) imaging of 3C 293 shows it to be a disk galaxy with an optical jet or tidal tail extending towards what appears to be a companion galaxy 28 kpc away via a low surface brightness envelope. The molecular gas appears to be distributed in...

2014
Zohreh Meshkati Mina Mostahfezian

. Abstract Background: The aim of this research was to study the relationship between organizational justice, organizational citizenship behavior, and organizational trust in the Department of Youth and Sports (DYS) in Fars Province, Iran. Materials and Methods: The population of this correlation research consisted of the employees of DYS of which 120 employees were randomly selected as the sam...

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