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C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle
It is shown that caprine-like Generalized Hypoplasia Syndrome is caused by a truncating mutation in the CEP250 gene that encodes the centrosomal protein C-Nap1, which extends the range of loci that constitute the spectrum of autosomal primary recessive microcephaly (MCPH) and Seckel-like syndromes.
Exhaustive genotyping of the CEM15 (APOBEC3G) gene and absence of association with AIDS progression in a French cohort.
There were no significant associations between the polymorphisms or haplotypes of CEM15 and a disease progression phenotype in the cohort of HIV-1-seropositive patients with extreme disease progression phenotypes.
Genomic analysis of Th1–Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10 haplotypes associated with the disease progression
An extensive genetic analysis of IL2, IL4, IL6, IL10, IL12p35 and p40, IL13 and IFNγ genes found no relation with variants of other genes and will facilitate further genetic investigations of Th1–Th2 cytokines in AIDS and other immune-related disorders.
Dominant Effects of CCR2-CCR5 Haplotypes in HIV-1 Disease Progression
- C. Winkler, H. Hendel, J. Zagury
- Biology, MedicineJournal of acquired immune deficiency syndromes
- 1 December 2004
Follow-up of SP demonstrated that these polymorphisms have little effect after 8 years, because the subset of SP who had progression after study entry had the same genotype distribution as the global population of SP, suggesting that factors other than CCR5 or CCR2 genetic variants must be responsible for the long-term maintenance of nonprogression.
Exhaustive genotyping of the interferon alpha receptor 1 (IFNAR1) gene and association of an IFNAR1 protein variant with AIDS progression or susceptibility to HIV-1 infection in a French AIDS cohort.
A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients
- A. Vasilescu, Y. Terashima, F. Matsuda
- Biology, MedicineProceedings of the National Academy of Sciences
- 27 February 2007
Results provide strong evidence of a protective role of the CXCR1-Ha allele on disease progression in AIDS, probably acting through modulation of CD4 and CX CR4 expression.
Exhaustive genotyping of the interleukin-1 family genes and associations with AIDS progression in a French cohort.
The IL-1-dependent inflammatory response is likely to play a role in AIDS progression via the regulation ofIL-1Ra expression, and this association will need to be confirmed in other AIDS cohorts, and experiments will also have to be performed to unravel the biological mechanisms at work.
Genetic interaction of CTLA‐4 with HLA‐DR15 in multiple sclerosis patients
The interaction of Cytotoxic T Lymphocyte‐associated antigen 4 (CTLA‐4 [CD152]) gene with DRB1*15 haplotype in multiple sclerosis genetic susceptibility is demonstrated.
Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes
The present study strongly suggests that some but not all envelope encoding sequences are bona fide genes, and provides new tools to elucidate the possible role of endogenous envelope proteins as susceptibility factors in a number of pathologies where HERVs have been suspected to be involved.
Associations of the IL2Ralpha, IL4Ralpha, IL10Ralpha, and IFN (gamma) R1 cytokine receptor genes with AIDS progression in a French AIDS cohort.
An extensive analysis of Th1/Th2 cytokine receptors IL2Ralpha, IL4R Alpha, IL10R alpha, and IFNgammaR1 gene polymorphisms to evaluate their impact on AIDS progression found weak associations for 13 polymorphisms, but could not relate these positive signals to any relevant biological information on the gene function.