AhR-deficiency as a cause of demyelinating disease and inflammation.

The Aryl hydrocarbon Receptor(AhR) is among the most important receptors which bind pollutants; however it also regulates signaling pathways independently of such exposure. We previously demonstrated that AhR is expressed during development of the central nervous system(CNS) and that its deletion leads to the occurrence of a congenital nystagmus. Objectives of the present study are to decipher the origin of these deficits, and to identify the role of the AhR in the development of the CNS.

Identification of susceptibility genes for peritoneal, ovarian, and deep infiltrating endometriosis using a pooled sample-based genome-wide association study.

Characterizing genetic contributions to endometriosis might help to shorten the time to diagnosis, especially in the most severe forms, but represents a challenge. Previous genome-wide association studies (GWAS) made no distinction between peritoneal endometriosis (SUP), endometrioma (OMA), and deep infiltrating endometriosis (DIE). We therefore conducted a pooled sample-based GWAS and distinguished histologically confirmed endometriosis subtypes.

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.

Polymicrogyria is a relatively common cortical malformation characterized by multiple small gyri with abnormal cortical lamination. The pathophysiological bases are heterogeneous and include extrinsic factors and genetic causes. Recent data has emphasized the high prevalence of chromosomal rearrangements in bilateral and mainly perisylvian polymicrogyria in the context of multiple congenital abnormalities.

Near-fixation of a Pfmsp1 block 2 allelic variant in genetically diverse Plasmodium falciparum populations across Western Colombia.

Assessment of the genetic diversity of Plasmodium falciparum in 110 Colombian isolates revealed that nearly all the parasites in the 97 isolates collected in endemic regions west of the Andes shared the same Pfmsp1 block 2 MAD20-type allelic variant, despite showing high diversity for other genetical markers. Analysis of published data indicated that the prevalence of this allelic variant of a major vaccine candidate antigen was already dominant since 1998. This phenomenon, which had not been hitherto recorded for a malaria blood stage antigen, is of biological and immunological interest but remains unexplained.

Insights into the P. y. yoelii hepatic stage transcriptome reveal complex transcriptional patterns.

During their complex life cycle, malaria parasites adopt morphologically, biochemically and immunologically distinct forms. The intra-hepatic form is the least known, yet of established value in the induction of sterile immunity and as a target for chemoprophylaxis. Using Plasmodium yoelii as a model we present here a novel approach to the elucidation of the transcriptome of this poorly studied stage.

Practical PCR genotyping protocols for Plasmodium vivax using Pvcs and Pvmsp1.

Background: Plasmodium vivax is the second most prevalent malaria parasite affecting more than 75 million people each year, mostly in South America and Asia. In addition to major morbidity this parasite is associated with relapses and a reduction in birthweight. The emergence and spread of drug resistance in Plasmodium falciparum is a major factor in the resurgence of this parasite.

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Mutations of CIAS1 have recently been shown to underlie familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS), in three families and one family, respectively. These rare autosomal dominant diseases are both characterized by recurrent inflammatory crises that start in childhood and that are generally associated with fever, arthralgia, and urticaria. The presence of sensorineural deafness that occurs later in life is characteristic of MWS.