نتایج جستجو برای: جهش δ32

تعداد نتایج: 3261  

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2011
Laura Westergard Jessie A Turnbaugh David A Harris

Transgenic mice expressing prion protein (PrP) molecules with several different internal deletions display spontaneous neurodegenerative phenotypes that can be dose-dependently suppressed by coexpression of wild-type PrP. Each of these deletions, including the largest one (Δ32-134), retains 9 aa immediately following the signal peptide cleavage site (residues 23-31; KKRPKPGGW). These residues h...

Journal: :Intervirology 2015
Landry Erik Mombo Cyrille Bisseye Patrick Mickala Simon Ossari Maria Makuwa

OBJECTIVE Given the magnitude of the HIV epidemic infection, many viral and human factors were analyzed, and the most decisive was the variant CCR5-Δ32. The presence of a low HIV prevalence (1.8%) in Gabon in the 1990s, compared to neighboring countries, represents a paradox that led us to search for viral and human genetic variants in this country. In this study, only variants of coreceptors a...

Journal: :Human molecular genetics 2013
Jérôme Lane Paul J McLaren Lucy Dorrell Kevin V Shianna Amanda Stemke Kimberly Pelak Stephen Moore Johannes Oldenburg Maria Teresa Alvarez-Roman Anne Angelillo-Scherrer Francoise Boehlen Paula H B Bolton-Maggs Brigit Brand Deborah Brown Elaine Chiang Ana Rosa Cid-Haro Bonaventura Clotet Peter Collins Sara Colombo Judith Dalmau Patrick Fogarty Paul Giangrande Alessandro Gringeri Rathi Iyer Olga Katsarou Christine Kempton Philip Kuriakose Judith Lin Mike Makris Marilyn Manco-Johnson Dimitrios A Tsakiris Javier Martinez-Picado Evelien Mauser-Bunschoten Anne Neff Shinichi Oka Lara Oyesiku Rafael Parra Kristiina Peter-Salonen Jerry Powell Michael Recht Amy Shapiro Kimo Stine Katherine Talks Amalio Telenti Jonathan Wilde Thynn Thynn Yee Steven M Wolinsky Jeremy Martinson Shehnaz K Hussain Jay H Bream Lisa P Jacobson Mary Carrington James J Goedert Barton F Haynes Andrew J McMichael David B Goldstein Jacques Fellay

Human genetic variation contributes to differences in susceptibility to HIV-1 infection. To search for novel host resistance factors, we performed a genome-wide association study (GWAS) in hemophilia patients highly exposed to potentially contaminated factor VIII infusions. Individuals with hemophilia A and a documented history of factor VIII infusions before the introduction of viral inactivat...

2016
Nilufer Sahin-Calapoglu Serpil Demirci Mustafa Calapoglu Baris Yasar

Background. Recent studies have revealed that inflammatory processes are involved in the pathogenesis of Parkinson's disease (PD). Multiple lines of evidence have suggested that chemokines and their receptors are involved in several neurodegenerative disorders. We have examined whether genetic polymorphisms at the genes encoding chemokines IL-8 (-251A>T), MCP-1 (-2518A/G), and RANTES (-28C>G) a...

2014
Timothy J. Henrich Paul J. McLaren Suhas S. P. Rao Nina H. Lin Emily Hanhauser Francoise Giguel Roy M. Gulick Heather Ribaudo Paul I. W. de Bakker Daniel R. Kuritzkes

OBJECTIVES We conducted a genome-wide association study to explore whether common host genetic variants (>5% frequency) were associated with presence of virus able to use CXCR4 for entry. METHODS Phenotypic determination of human immunodeficiency virus (HIV)-1 coreceptor usage was performed on pretreatment plasma HIV-1 samples from treatment-naive participants in AIDS Clinical Trials Group A5...

2017
Derek So Erika Kleiderman Seydina B. Touré Yann Joly

Recent gene editing experiments carried out in human embryos have raised the question of whether interventions like the introduction of a CCR5-Δ32 deletion, which could provide heritable resistance to HIV infection, ought to be considered enhancements. Many authors have used the term "enhancement" in different ways, some based on patients' biomedical outcomes and others on their social context....

Journal: :PLoS Biology 2005
John Novembre Alison P Galvani Montgomery Slatkin

The Delta32 mutation at the CCR5 locus is a well-studied example of natural selection acting in humans. The mutation is found principally in Europe and western Asia, with higher frequencies generally in the north. Homozygous carriers of the Delta32 mutation are resistant to HIV-1 infection because the mutation prevents functional expression of the CCR5 chemokine receptor normally used by HIV-1 ...

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