نتایج جستجو برای: piebaldism

تعداد نتایج: 207  

Journal: :Molecular therapy : the journal of the American Society of Gene Therapy 2009
Annagiusi Gargiulo Ciro Bonetti Sandro Montefusco Simona Neglia Umberto Di Vicino Elena Marrocco Michele Della Corte Luciano Domenici Alberto Auricchio Enrico M Surace

Oculo-cutaneous albinism type 1 (OCA1) is characterized by congenital hypopigmentation and is due to mutations in the TYROSINASE gene (TYR). In this study, we have characterized the morpho-functional consequences of the lack of tyrosinase activity in the spontaneous null mouse model of OCA1 (Tyr(c-2j)). Here, we show that adult Tyr(c-2j) mice have several retinal functional anomalies associated...

Journal: :PLoS Biology 2008
Liza Gross

Following a long tradition of demonizing those who look different, a surprising number of Hollywood movies cast serial killers, mass murderers, and assassins as albinos who invariably wind up meeting a gruesome end for their menacing ways. The cold-blooded sharpshooter portrayal is especially ludicrous, points out dermatologist Vail Reese (on http:// www.skinema.com), given that vision problems...

2018
Chung Shil Kwak Jiwon Yang Chang-Yup Shin Jin Ho Chung

BACKGROUND/OBJECTIVES Ultraviolet radiation (UV) is a major cause of skin photoaging. Previous studies reported that ethanol extract (PET) of Prunus persica (L.) Batsch flowers (PPF, peach flowers) and its subfractions, particularly the ethylacetate (PEA) and n-butanol extracts (PBT), have potent antioxidant activity and attenuate the UV-induced matrix metalloproteinase (MMP) expression in huma...

2003
Qi Wang Ruhai Zhou

Received: 11 March 2003 Accepted: 21 May 2003 Published online: 5 September 2003 Springer-Verlag 2003 Abstract We study the shear problem for nematic polymers as modeled by the molecular kinetic theory of Doi (1981), focusing on the anomalous slow flow regime. We provide the kinetic phase diagram of monodomain (MD) attractors and phase transitions vs normalized nematic concentration (N) and wea...

2003
Jonathan H. Smith

The Center for the Study of Metals in the Environment is a multi-institutional consortium of scientists and engineers working to further the understanding of processes affecting the fate and effects of metals in aquatic and terrestrial ecosystems. Significant gaps in the ability to predict the fate and effects of metals in both aquatic and terrestrial systems continue to hamper appropriate risk...

Journal: :Blood 1995
E Haddad F Le Deist S Blanche M Benkerrou P Rohrlich E Vilmer C Griscelli A Fischer

Chediak-Higashi syndrome is a rare condition characterized by susceptibility to bacterial infections, defective natural killer activity, and episodes of macrophage activation known as accelerated phases. Chemotherapy can induce transient remission of the accelerated phase, but relapses become less and less sensitive to treatment and ultimately lead to death. Allogenic bone marrow transplantatio...

2006

At the International Conference on Chemicals Management (ICCM) of the United Nations Environment Programme (UNEP) in February 2006, the “Strategic Approach to International Chemicals Management (SAICM)” was adopted, and over one hundred countries around the world reached agreement to “minimize significant adverse effects from production and use of chemicals on human health and the environment b...

Journal: :Infection and immunity 2005
Andreas Sturm Klaus Rilling Daniel C Baumgart Konstantinos Gargas Tay Abou-Ghazalé Bärbel Raupach Jana Eckert Ralf R Schumann Corinne Enders Ulrich Sonnenborn Bertram Wiedenmann Axel U Dignass

Although the probiotic Escherichia coli strain Nissle 1917 has been proven to be efficacious for the treatment of inflammatory bowel diseases, the underlying mechanisms of action still remain elusive. The aim of the present study was to analyze the effects of E. coli Nissle 1917 on cell cycling and apoptosis of peripheral blood and lamina propria T cells (PBT and LPT, respectively). Anti-CD3-st...

Journal: :Dermatology 2009
Alfredo Rossi Riccardo G Borroni Anna Maria Carrozzo Catia de Felice Adriana Menichelli Marta Carlesimo Stefano Calvieri

Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair ('partial albinism'). Three forms exist; GS type 2 (GS2), the most common one, is characterized by severe primary immunodeficiency with acute episodes of hemophagocytic lymphohistiocytosis (HLH) which may be fatal in the absence of hematopoietic stem cell transplantation. A 5-year-old boy with HLH was re...

2004
Rhett T. Brewer David A. Boyd Mohamed Y. El-Naggar Stacey W. Boland Young-Bae Park Sossina M. Haile David G. Goodwin Harry A. Atwater

We prepared highly aligned, biaxially textured BaxPb1−xTiO3 (PBT) on amorphous Si3N4 by using an ion-beam-assisted deposited MgO as a template layer. PBT was deposited on a biaxially textured MgO using sol-gel synthesis, metal-organic chemical-vapor deposition, and molecular beam epitaxy. The biaxial texture of the PBT was inherited from the MgO template. The reflection high-energy electron dif...

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