Search results for "PIDE"

rRNA gene restriction patterns and biotypes of Shigella sonnei.

1993

SUMMARYShigella sonneiis a major agent of diarrhoeal disease in developed as well as in developing countries. Several phenotypic methods to define strain differences have been applied to this species ofShigellaincluding, more recently, analysis of extrachromosomal and chromosomal DNA.In this study, 432 endemic and epidemic strains isolated between 1975 and 1991 in Italy, France and Switzerland were submitted to rRNA gene restriction pattern analysis, after digestion of whole-cell DNA byHincII, and to concomitant biotyping.Thirteen ribotypes, HI to H13, and five biotypes, a, d, e, f, g, were detected. Xinety-five percent of the sporadic strains were assigned to ribotypes HI to H4, which coul…

Familial combined hypolipidemia due to mutations in the ANGPTL3 gene

2013

The role of ANGPTL3 in lipoprotein metabolism emerged from studies in a mutant mouse strain characterized by severe hypotriglyceridemia and carrying a loss-of-function (LOF) mutation of the ANGPTL3 gene. ANGPTL3 was found to inhibit lipoprotein lipase and endothelial lipase. Genome-wide association studies in humans demonstrated the association of ANGPTL3 variants with plasma triglyceride levels and LOF mutations of ANGPTL3 were found in hypotriglyceridemic subjects in population studies. Recently, individuals originally classified as affected by familial hypobetalipoproteinemia were found to be homozygotes/compound heterozygotes for rare LOF mutations of ANGPTL3. They show a striking reduc…

Mitochondrial DNA distributions indicate colony propagation by single matri-lineages in the social spider Stegodyphus dumicola (Eresidae)

2002

Colony-dwelling social spiders of the genus Stegodyphus are characterized by high colony turnover, within-colony mating, inbreeding and skewed sex ratios. These phenomena may purge genetic variation from the entire species gene pool. Social Stegodyphus have previously been discussed as ecologically unstable and evolutionary dead ends. We investigated the distribution and age (sequence divergence) of mitochondrial DNA variation for inferences of colony propagation, colony discreteness and maintenance of genetic variation in the social spider S. dumicola. In contrast to our expectations, we found abundant mtDNA variation, consisting of 15 haplotypes belonging to four haplotype lineages. Linea…

P2‐077: Identification of potential modifiers of Alzheimer's disease pathology by quantitative mass spectrometry and drosophila genetics

2015

Spider odors induce stoichiometric changes in fruit fly Drosophila melanogaster

2020

Restriction fragment polymorphisms of the HLA-DR, HLA-DQ, and insulin gene regions in IDDM: The GAW5 data

1989

The primary aim of the insulin-dependent diabetes mellitus (IDDM) component of Genetic Analysis Workshop 5 (GAW5) was to collect and analyze new data on DNA polymorphisms closely linked to the HLA-D region and the insulin gene. The probes and restriction enzymes described here were used by all ten participating labs, and the data from Southern blotting were interpreted and reported according to conventions developed for the Workshop. These DNA data on members of 94 families with two or more IDDM sibs constitute the largest such sample available. The data were used in most of the analyses presented at the Workshop meeting, and are available on request.

Invasion biology and host specificity of the grapevine yellows disease vector Hyalesthes obsoletus in Europe

2008

Within the past 10 years, the yellows disease ‘bois noir’ (BN) has become one of the commercially most important diseases of grapevine [ Vitis vinifera L. (Vitaceae)] in Europe. Infection pressure is caused by phytoplasmas of the stolbur 16SrXII-A group that are transmitted by a planthopper vector, Hyalesthes obsoletus Signoret (Homoptera: Auchenorrhyncha). Infestation happens as an accidental side-effect of the feeding behaviour of the vector, as vector and pathogen proliferation is dependent on other plants. In Germany, the increase of BN is correlated with the use of a new host plant by the vector, increase in abundance of the vector on the new host plant, and dissemination of host plant…

Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array

2015

Genome-wide association studies (GWAS) successfully identified various chromosomal regions to be associated with multiple sclerosis (MS). The primary aim of this study was to replicate reported associations from GWAS using an exome array in a large German study. German MS cases (n = 4,476) and German controls (n = 5,714) were genotyped using the Illumina HumanExome v1-Chip. Genotype calling was performed with the Illumina Genome Studio(TM) Genotyping Module, followed by zCall. Single-nucleotide polymorphisms (SNPs) in seven regions outside the human leukocyte antigen (HLA) region showed genome-wide significant associations with MS (P values < 5 × 10(-8) ). These associations have been repor…

Genetic analysis of IDDM: The GAW5 multiplex family dataset

1989

In a collaborative effort by 12 centers from Europe and North America, data were assembled from 94 multiplex families with insulin-dependent diabetes mellitus (IDDM) for analysis of genetic and other factors of possible etiological importance. The dataset contains information on the following genetic markers: HLA-DR beta and -DQ beta restriction fragment length polymorphisms (RFLPs), three RFLPs detected with two probes that map 5' to the insulin gene, the serologically defined HLA loci, and the immunoglobulin allotypes. Data also were included for auto-antibodies to insulin and pancreatic islet cells as possible indicators of pathogenesis and for antibodies to certain viruses that have bee…

S2k Guidelines for Cutaneous Basal Cell Carcinoma - Part 1: Epidemiology, Genetics and Diagnosis

2018

Basal cell carcinoma is the most common malignant tumor among fair-skinned individuals, and its incidence has been rising steadily in the past decades. In order to maintain the highest quality of patient care possible, the German S2k guidelines were updated following a systematic literature search and with the participation of all professional societies and associations involved in the management of the disease. Part 1 highlights new developments in genetics in particular as well as aspects regarding epidemiology, diagnosis, and histology.