نتایج جستجو برای: abetalipoproteinemia

تعداد نتایج: 433  

Journal: :Oncology reports 2006
François Bertucci Anthony Goncalves Geneviève Monges Anne Madroszyk Jérome Guiramand Vincent Moutardier Tetsuro Noguchi Patrice Dubreuil Hagay Sobol

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract. Most of them have an activating mutation of KIT or PDGFRalpha tyrosine-kinase receptors. Imatinib is a selective tyrosine-kinase inhibitor of ABL, KIT and PDGFR, and provides a clinical benefit in about 85% of patients with advanced GIST. Unfortunately, secondary resistance following ...

Journal: :Journal of wildlife diseases 2006
W C Stoffregen D P Alt M V Palmer S C Olsen W R Waters J A Stasko

During an 18-mo period (May 2002-November 2003), 10 animals in a herd of 19 reindeer (Rangifer tarandus) at the National Animal Disease Center (NADC) experienced episodes of anemia. Affected animals had histories of weight loss, unthriftiness, occasionally edema of dependent parts and moderate anemia characterized by microcytosis or macrocytosis, hypochromasia, schistocytosis, keratocytosis, ac...

2011
Martin Preyer Paolo Vigneri Jean Y. J. Wang

BACKGROUND The constitutively activated BCR-ABL tyrosine kinase of chronic myeloid leukemia (CML) is localized exclusively to the cytoplasm despite the three nuclear localization signals (NLS) in the ABL portion of this fusion protein. The NLS function of BCR-ABL is re-activated by a kinase inhibitor, imatinib, and in a kinase-defective BCR-ABL mutant. The mechanism of this kinase-dependent inh...

Journal: :Neuron 2007
Thomas A. Stalnaker Theresa M. Franz Teghpal Singh Geoffrey Schoenbaum

Damage to orbitofrontal cortex (OFC) has long been associated with deficits in reversal learning. OFC damage also causes inflexible associative encoding in basolateral amygdala (ABL) during reversal learning. Here we provide a critical test of the hypothesis that the reversal deficit in OFC-lesioned rats is caused by this inflexible encoding in ABL. Rats with bilateral neurotoxic lesions of OFC...

2015
Jae-Hyeok Lee Won-Ho Cho Seung-Heon Cha Dong-Wan Kang

Chorea-acanthocytosis (ChAc) is a rare hereditary disorder characterized by involuntary choreiform movements and erythrocytic acanthocytosis. Pharmacotherapy for control of involuntary movements has generally been of limited benefit. Deep brain stimulation (DBS) has recently been used for treatment of some refractory cases of ChAc. We report here on the effect of bilateral high-frequency DBS of...

Journal: :Molecular and cellular biology 2002
Nicolas Foray Didier Marot Voahangy Randrianarison Nicole Dalla Venezia Didier Picard Michel Perricaudet Vincent Favaudon Penny Jeggo

BRCA1 plays an important role in mechanisms of response to double-strand breaks, participating in genome surveillance, DNA repair, and cell cycle checkpoint arrests. Here, we identify a constitutive BRCA1-c-Abl complex and provide evidence for a direct interaction between the PXXP motif in the C terminus of BRCA1 and the SH3 domain of c-Abl. Following exposure to ionizing radiation (IR), the BR...

Journal: :Indian pediatrics 1996
P D Singhi

The case report on Hallervorden Spatz disease (HSD)(1) aroused interest, particularly because we are currently managing a child with this disease in our Pediatric Neurology Clinic. Although the authors have rightly suspected the condition, they have not presented parameters on the basis of which the diagnosis was made. Absence of criteria for Wilson's disease and presence of family history of s...

2017
Samuel S. Pappas Juan Bonifacino Adrian Danek William T. Dauer Mithu De Lucia De Franceschi Gilbert DiPaolo Robert Fuller Volker Haucke Andreas Hermann Benoit Kornmann Bernhard Landwehrmeyer Johannes Levin Aaron M. Neiman Dobrila D. Rudnicki Ody Sibon Antonio Velayos-Baeza Jan J. Vonk Ruth H. Walker Lois S. Weisman Roger L. Albin

Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth International Chorea-Acanthocytosis Symposium was held in May 2016 in Ann Arbor, MI, USA, and focused on mole...

2014
Ramakrishnan Kannan Irina Kuzina Stephen Wincovitch Stephanie H. Nowotarski Edward Giniger

The Golgi apparatus is optimized separately in different tissues for efficient protein trafficking, but we know little of how cell signaling shapes this organelle. We now find that the Abl tyrosine kinase signaling pathway controls the architecture of the Golgi complex in Drosophila photoreceptor (PR) neurons. The Abl effector, Enabled (Ena), selectively labels the cis-Golgi in developing PRs. ...

Journal: :ACS medicinal chemistry letters 2013
Cristina Peruzzotti Stella Borrelli Micol Ventura Rebecca Pantano Gaia Fumagalli Michael S Christodoulou Damiano Monticelli Marcello Luzzani Anna Lucia Fallacara Cristina Tintori Maurizio Botta Daniele Passarella

Modern combinatorial chemistry is used to discover compounds with desired function by an alternative strategy, in which the biological target is directly involved in the choice of ligands assembled from a pool of smaller fragments. Herein, we present the first experimental result where the use of in situ click chemistry has been successfully applied to probe the ligand-binding site of Abl and t...

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