Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mice.

Mutations in the mouse microphthalmia-associated transcription factor () gene affect retinal pigment epithelium (RPE) differentiation and development and can lead to hypopigmentation, microphthalmia, deafness, and blindness. For instance, an association has been established between loss-of-function mutations in the mouse gene and a variety of human retinal diseases, including Waardenburg type 2 and Tietz syndromes. Although there is evidence showing that mice with the homozygous mutation manifest microphthalmia and osteopetrosis, there are limited or no data on the effects of the heterozygous condition in the eye.

Loss-of-Function Variants in the Tumor-Suppressor Gene Confer Increased Cancer Risk.

The success of genome-wide association studies (GWAS) in identifying common, low-penetrance variant-cancer associations for the past decade is undisputed. However, discovering additional high-penetrance cancer mutations in unknown cancer predisposing genes requires detection of variant-cancer association of ultra-rare coding variants. Consequently, large-scale next-generation sequence data with associated phenotype information are needed.

Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.

Pelvic organ prolapse (POP) is a downward descent of one or more of the pelvic organs, resulting in a protrusion of the vaginal wall and/or uterus. We performed a genome-wide association study of POP using data from Iceland and the UK Biobank, a total of 15,010 cases with hospital-based diagnosis code and 340,734 female controls, and found eight sequence variants at seven loci associating with POP (P < 5 × 10); seven common (minor allele frequency >5%) and one with minor allele frequency of 4.87%.

Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.

Background: Alpha-fetoprotein (AFP), cancer antigens 15.3, 19.9, and 125, carcinoembryonic antigen, and alkaline phosphatase (ALP) are widely measured in attempts to detect cancer and to monitor treatment response.

[Health and survival in Icelandic nursing homes 2003 - 2014, before and after the setting of stricter criteria for nursing home admission in December 2007].

Introduction: Many factors influence the nursing needs and survival of nursing home residents, including the admission criteria. The aim of the study was to compare health, survival and predictors for one- and two-year survival of people entering Icelandic nursing homes between 2003-2007 and 2008-2014.

Material And Methods: Retrospective, descriptive, comparative study.

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-analysis of two genome-wide association studies of leiomyoma in European women (16,595 cases and 523,330 controls), uncovering 21 variants at 16 loci that associate with the disease. Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.

Functional Annotation of All Salmonid Genomes (FAASG): an international initiative supporting future salmonid research, conservation and aquaculture.

We describe an emerging initiative - the 'Functional Annotation of All Salmonid Genomes' (FAASG), which will leverage the extensive trait diversity that has evolved since a whole genome duplication event in the salmonid ancestor, to develop an integrative understanding of the functional genomic basis of phenotypic variation. The outcomes of FAASG will have diverse applications, ranging from improved understanding of genome evolution, to improving the efficiency and sustainability of aquaculture production, supporting the future of fundamental and applied research in an iconic fish lineage of major societal importance.

Perceived consequences, changeability and personal control of coronary heart disease are associated with health-related quality of life.

Aims And Objectives: To explore changes in illness perception and health-related quality of life in patients with coronary heart disease following percutaneous coronary intervention from the time when patients were discharged from hospital and five months later and to investigate association between illness perception and physical and mental health-related quality of life at five-month follow-up.

Background: Illness perception is known to influence patients' motivation to engage in preventive behaviour.

Design: Prospective and comparative with two measurement points: at discharge from hospital (time 1) and five months later (time 2).

Community participation and environment of children with and without autism spectrum disorder: parent perspectives.

Aim: This study explored parent perspectives of participation patterns and environmental supports and barriers for high-functioning children with autism spectrum disorder (ASD) within their communities compared with a group of children without ASD.

Method: The Participation and Environment Measure for Children and Youth was used to gather online data from parents of 99 children with ASD and 241 children without ASD. Mann-Whitney U test and chi-square tests were used to explore differences between groups and Cohen's d was calculated to examine effect sizes.

Underage Use of Social Network Sites: It's About Friends.

European self-regulation to ensure children's safety on social networking sites (SNS) stipulates that children should be old enough to use their services. However, a growing number of children are not. Drawing on data from the Net Children Go Mobile (NCGM) project (2012-2014), this study focuses on children aged 9-12 years, among whom 42% have a profile on Facebook, many with the explicit permission of their parents, despite the explicit policy allowing only children aged 13 years and older.

[Public attitudes towards presumed consent in organ donation in Iceland].

Introduction: Organ transplant is often the only viable treatment for patients with end-stage organ failure. Until now, Icelandic legislation has required informed consent for organ donors, but a new parliamentary bill has been put forth to change the laws to presumed consent. The goal of this study was to investigate the attitude of the Icelandic population towards legislative changes to presumed consent.

Internet addictive behavior in adolescence: a cross-sectional study in seven European countries.

A cross-sectional school-based survey study (N=13,284; 53% females; mean age 15.8±0.7) of 14-17-year-old adolescents was conducted in seven European countries (Greece, Spain, Poland, Germany, Romania, the Netherlands, and Iceland).

Online social networking in adolescence: patterns of use in six European countries and links with psychosocial functioning.

Purpose: Online communication tools, such as social networking sites (SNS), have been comprehensively embraced by adolescents and have become a dominant daily social practice. Recognizing SNS as a key context of adolescent development, this study aimed to investigate associations between heavier SNS use, and adolescent competencies and internalizing problems.

Methods: Data was collected in six European countries: Greece, Spain, Poland, the Netherlands, Romania, and Iceland.

Present-day genetic structure of Atlantic salmon (Salmo salar) in Icelandic rivers and ice-cap retreat models.

Due to an improved understanding of past climatological conditions, it has now become possible to study the potential concordance between former climatological models and present-day genetic structure. Genetic variability was assessed in 26 samples from different rivers of Atlantic salmon in Iceland (total of 2,352 individuals), using 15 microsatellite loci. F-statistics revealed significant differences between the majority of the populations that were sampled.

Fourteen new microsatellite markers for Atlantic herring Clupea harengus.

Fourteen new microsatellite loci were developed and tested on Atlantic herring Clupea harengus with 39 individuals from Iceland and 49 individuals from Norway. The microsatellites, which contain di, tri and tetranucleotide repeats, are polymorphic (7-30 alleles), with observed heterozygosity ranging between 0·69 and 1·00 and expected heterozygosity between 0·55 and 0·97.

Mutations in BRIP1 confer high risk of ovarian cancer.

Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Sixteen million sequence variants, identified through whole-genome sequencing of 457 Icelanders, were imputed to 41,675 Icelanders genotyped using SNP chips, as well as to their relatives. Sequence variants were tested for association with ovarian cancer (N of affected individuals = 656).

Permanent Genetic Resources added to the Molecular Ecology Resources Database 1 February 2010-31 March 2010.

This article documents the addition of 228 microsatellite marker loci to the Molecular Ecology Resources Database. Loci were developed for the following species: Anser cygnoides, Apodemus flavicollis, Athene noctua, Cercis canadensis, Glis glis, Gubernatrix cristata, Haliotis tuberculata, Helianthus maximiliani, Laricobius nigrinus, Laricobius rubidus, Neoheligmonella granjoni, Nephrops norvegicus, Oenanthe javanica, Paramuricea clavata, Pyrrhura orcesi and Samanea saman. These loci were cross-tested on the following species: Apodemus sylvaticus, Laricobius laticollis and Laricobius osakensis (a proposed new species currently being described).

Novel set of multiplex assays (SalPrint15) for efficient analysis of 15 microsatellite loci of contemporary samples of the Atlantic salmon (Salmo salar).

We report the development of new PCR assays and loading panels for the Atlantic salmon using 15 microsatellite loci. A total of 8, 3 and 4 loci were coamplified in three separate PCRs using labelled primers and loaded on the ABI DNA analyzer in two separate panels. Amplified alleles were clearly typed, and easily interpretable results were obtained.

Detection and mapping of mtDNA SNPs in Atlantic salmon using high throughput DNA sequencing.

Background: Approximately half of the mitochondrial genome inherent within 546 individual Atlantic salmon (Salmo salar) derived from across the species' North Atlantic range, was selectively amplified with a novel combination of standard PCR and pyro-sequencing in a single run using 454 Titanium FLX technology (Roche, 454 Life Sciences). A unique combination of barcoded primers and a partitioned sequencing plate was employed to designate each sequence read to its original sample. The sequence reads were aligned according to the S.

Microsatellite standardization and evaluation of genotyping error in a large multi-partner research programme for conservation of Atlantic salmon (Salmo salar L.).

Microsatellite genotyping is a common DNA characterization technique in population, ecological and evolutionary genetics research. Since different alleles are sized relative to internal size-standards, different laboratories must calibrate and standardize allelic designations when exchanging data. This interchange of microsatellite data can often prove problematic.

Salmonella osteomyelitis in pregnancy.

Salmonella osteomyelitis is rare in the immunocompetent host, even though Salmonella is not an infrequent public health problem. Invasive salmonellosis has in general a poor outcome in pregnancy with regard to fetal survival. We report the case of a healthy woman who developed Salmonella osteomyelitis of the iliac bone four weeks after a febrile gastroenteritis in the first trimester of pregnancy.

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.

The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.

Characterization of 18 new microsatellite loci in Atlantic cod (Gadus morhua L.).

Eighteen new microsatellite loci consisting of 10 di-, 5 tri-, 2 tetra- and 1 heptanucleotide repeats are introduced for the Atlantic cod (Gadus morhua L.). All loci were co-amplified in two polymerase chain reactions (plus two previously published microsatellites) and all products were typed clearly.