نتایج جستجو برای: abetalipoproteinemia

تعداد نتایج: 433  

Journal: :Annals of neurology 2004
Carol Dobson-Stone Antonio Velayos-Baeza Lea A Filippone Sarah Westbury Alexander Storch Torsten Erdmann Stephen J Wroe Klaus L Leenders Anthony E Lang Maria Teresa Dotti Antonio Federico Saidi A Mohiddin Lameh Fananapazir Geoff Daniels Adrian Danek Anthony P Monaco

Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed. However, chorein expression was absent or noticeably reduced in ChAc patient cel...

2000
Menno van Zaanen

This ])al)er introdu(:es a new tyl)e of grammar learning algorithm, iilst)ired l)y sl;ring edit distance (Wagner and Fis(:her, 1974). The algor i thm takes a (:ortms of tlat S(~lltell(:es as input and returns a (:ortms of lat)elled, l)ra(:ket(~(1 sen-~ ten(:(~s. The method works on 1)airs of unstru(:tllr(?(l SelltellC(~,s that have one or more words in ( :onunon. W]lc, ll two senten( 'es are (t...

Journal: :The journal of extra-corporeal technology 2007
Kirti P Patel Gary W Hay Mahesh Keitheri Cheteri David W Holt

The purpose of this study was to compare the variation in hemoglobin (Hgb) values among various point-of-care (POC) analyzers available on the market. Eight analyzers (Gem 3000, ABL 720, ABL 77, Rapidpoint 405, IL 682, GemOPL, Hb 201+, and manual/centrifugation) were compared with the Hgb values from the Beckman Coulter LH750. A total of 72 patient samples were analyzed on each test instrument....

2017
Mehri Salari Alexander C Lehn Masoud Etemadifar Seyed Amir Hejazi

Chorea-acanthocytosis (ChAc) is an orphan disease, caused by mutations on chromosome 9. Epileptic seizures of mesial temporal origin can be a predominant symptom. We report on a 29-year-old woman with ChAc and bilateral MTS. Previously, few patients with coexisting ChAc and MTS were reported. The underlying pathophysiology is unknown, and further studies are needed.

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 1999
G Schoenbaum A A Chiba M Gallagher

Orbitofrontal cortex (OFC) is part of a network of structures involved in adaptive behavior and decision making. Interconnections between OFC and basolateral amygdala (ABL) may be critical for encoding the motivational significance of stimuli used to guide behavior. Indeed, much research indicates that neurons in OFC and ABL fire selectively to cues based on their associative significance. In t...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2013
Carles Corbi-Verge Fabrizio Marinelli Ana Zafra-Ruano Javier Ruiz-Sanz Irene Luque José D Faraldo-Gómez

The regulation and localization of signaling enzymes is often mediated by accessory modular domains, which frequently function in tandems. The ability of these tandems to adopt multiple conformations is as important for proper regulation as the individual domain specificity. A paradigmatic example is Abl, a ubiquitous tyrosine kinase of significant pharmacological interest. SH3 and SH2 domains ...

2007
B. Hennemuth

A comparison study of water cycle parameters derived from ground-based remote-sensing instruments and from the regional model REMO is presented. Observational data sets were collected during three measuring campaigns in summer/autumn 2003 and 2004 at Richard Aßmann Observatory, Lindenberg, Germany. The remote sensing instruments which were used are differential absorption lidar, Doppler lidar, ...

2014
Saad Hassan Masood ul Hassan Muhammad Shoaib

Banking industry is under sturdy pressure from the need to compete and respond to speedy changes in the market. Banks, moreover, must motivate their employees to keep their organization coincident with the challenges they face. For this, banks have to cater their employees with the factors that not only engage their employees in the work but also help in creating satisfied workforce. Therefore,...

Journal: :Neuron 1998
Anthony J Koleske Ann M Gifford Martin L Scott Michelle Nee Roderick T Bronson Klaus A Miczek David Baltimore

The Abl and Arg tyrosine kinases play fundamental roles in the development and function of the central nervous system. Arg is most abundant in adult mouse brain, especially in synapse-rich regions. arg(-/-) mice develop normally but exhibit multiple behavioral abnormalities, suggesting that arg(-/-) brains suffer from defects in neuronal function. Embryos deficient in both Abl and Arg suffer fr...

Journal: :Molecular reproduction and development 2002
J Block C C Chase P J Hansen

Brahman preimplantation embryos are less affected by exposure to heat shock than Holstein embryos. Two experiments were conducted to test whether the ability of Brahman embryos to resist the deleterious effects of heat shock was a result of the genetic and cellular contributions from the oocyte, spermatozoa, or a combination of both. In the first experiment, Brahman and Holstein oocytes were co...

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