Hypoxia in Tumors: Pathogenesis-Related Classification, Characterization of Hypoxia Subtypes, and Associated Biological and Clinical Implications

Author(s):  
Peter Vaupel ◽  
Arnulf Mayer
PLoS ONE ◽  
2018 ◽  
Vol 13 (8) ◽  
pp. e0201932
Author(s):  
Yannick Bantel ◽  
Rabih Darwiche ◽  
Steffen Rupp ◽  
Roger Schneiter ◽  
Kai Sohn

2012 ◽  
pp. 157-171 ◽  
Author(s):  
Alberto Froio ◽  
Luca Rossi ◽  
Savino Pasquadibisceglie ◽  
Giorgio M. Biasi

Author(s):  
Mami Shibata ◽  
Atsushi Ishii ◽  
Ayako Goto ◽  
Shinichi Hirose

AbstractMissense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to investigate variations in distributional characteristics and the clinical implications of variant type in PCDH19-related epilepsy. We comprehensively collected PCDH19 missense and truncating variants from the literature and by sequencing six exons and intron–exon boundaries of PCDH19 in our cohort. We investigated the distribution of each type of variant using the cumulative distribution function and tested for associations between variant types and phenotypes. The distribution of missense variants in patients was clearly different from that of healthy individuals and was uniform throughout the extracellular cadherin (EC) domain, which consisted of six highly conserved domains. Truncating variants showed two types of distributions: (1) located from EC domain 1 to EC domain 4, and (2) located from EC domain 5 to the cytoplasmic domain. Furthermore, we also found that later onset seizures and milder intellectual disability occurred in patients with truncating variants located from EC domain 5 to the cytoplasmic domain compared with those of patients with other variants. Our findings provide the first evidence of two types of truncating variants in the PCDH19 gene with regard to distribution and the resulting clinical phenotype.


Ophthalmology ◽  
2018 ◽  
Vol 125 (3) ◽  
pp. 407-422 ◽  
Author(s):  
Nicolás Cuenca ◽  
Isabel Ortuño-Lizarán ◽  
Isabel Pinilla

1994 ◽  
Vol 80 (2) ◽  
pp. 88-100 ◽  
Author(s):  
Annarosa Del Mistro ◽  
Maria Luisa Calabrò ◽  
Anna Favero ◽  
Luigi Chieco-Bianchi

Human T-lymphotropic viruses (HTLV) type I and II were first described more than a decade ago. HTLV-I epidemiology and etiopathology are more defined than those of HTLV-II, but conflicting results have been obtained in seroepidemiologic surveys, mainly for difficulties in the discrimination between the two infections. The introduction of advanced serologic and molecular assays has recently provided sensitive and specific tools for diagnosis, and the epidemiologic and etiopathologic patterns linked to these retroviruses are being more precisely defined. Moreover, extensive nucleotide sequence analyses performed so far have mainly focused on HTLV-I isolates. The recent discovery of new HTLV-II endemic areas and the isolation of HTLV-II strains from intravenous drug users have finally provided the material for the molecular characterization of HTLV-II isolates, which is now a rapidly envolving field. We review the diagnostic strategies available and the etiologic associations reported so far for both viruses and also discuss the occurrence and significance of indeterminate serologic reactivities observed in both endemic and non-endemic areas.


1990 ◽  
Vol 14 (3) ◽  
pp. 381-390 ◽  
Author(s):  
Serge Kauffmann ◽  
Michel Legrand ◽  
Bernard Fritig

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