Search results for "NHE"
showing 10 items of 1058 documents
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
2010
Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans with that bearing the 35delG mutation in these four persons. Usin…
Nutritional self-care in two older Norwegian males: a case study
2013
Solveig T Tomstad,1,2 Ulrika Söderhamn,2 Geir Arild Espnes,1,3 Olle Söderhamn21Department of Social Work and Health Science, Faculty of Social Sciences and Technology Management, Norwegian University of Science and Technology, Trondheim, 2Centre for Caring Research-Southern Norway, Faculty of Health and Sport Sciences, University of Agder, Grimstad, 3Research Centre for Health Promotion and Resources, Department of Social Work and Health Science, Faculty of Social Sciences and Technology Management, Norwegian University of Science and Technology, Trondheim, NorwayBackground: Knowledge about how to support nutritional self-care in the vulnerable elderly living in their own …
Victimisation and life satisfaction of gay and bisexual individuals in 44 European countries: the moderating role of country-level and person-level a…
2018
We examined the link between victimisation and life satisfaction for 85,301 gay and bisexual individuals across 44 European countries. We expected this negative link to be stronger when the internalised homonegativity of the victim was high (e.g. because the victim is more vulnerable) and weaker when victimisation occurs in countries that express intolerance towards homosexuality (e.g. because in such contexts victims expect victimisation more and they attribute it to their external environment). Additionally, we expected internalised homonegativity to relate negatively to life satisfaction. Multilevel analyses revealed that victimisation (i.e. verbal insults, threats of violence, minor or …
Attenuation of sucrose consumption in mice by chronic mild stress and its restoration by imipramine
1995
Chronic exposure to mild unpredictable stressors (CMS) has previously been found to reduce the consumption of palatable, sweet solutions in rats. In the present study, the utility of this procedure was assessed in mice. Male AP mice subjected to CMS showed reduced consumption of a 2% or 4% sucrose solution. This effect was reversed by chronic (3 weeks) treatment with the tricyclic antidepressant imipramine (20 mg/kg per day). These results extend previous reports of a generalized decrease in sensitivity to reward (anhedonia) in rats caused by CMS and the efficacy of antidepressant treatment in this paradigm. Chronic unpredictable mild stress in mice appears to provide a realistic animal mod…
Partial replication of a DRD4 association in ADHD individuals using a statistically derived quantitative trait for ADHD in a family-based association…
2007
Contains fulltext : 52515.pdf (Publisher’s version ) (Closed access) BACKGROUND: Previous research found an association between single nucleotide polymorphisms (SNPs) in the promoter region of DRD4 and statistically derived phenotypes generated from attention-deficit/hyperactivity disorder (ADHD) symptoms. We sought to replicate this finding by using the same methodology in an independent sample of ADHD individuals. METHODS: Four SNPs were genotyped in and around DRD4 in 2631 individuals in 642 families. We developed a quantitative phenotype at each SNP by weighting nine inattentive and nine hyperactive-impulsive symptoms. The weights were selected to maximize the heritability at each SNP. …
Population differences in the International Multi-Centre ADHD Gene Project.
2008
Contains fulltext : 71443.pdf (Publisher’s version ) (Closed access) The International Multi-Centre ADHD Gene sample consists of 674 families from eight countries (Belgium, England, Germany, Holland, Ireland, Israel, Spain, and Switzerland) ascertained from clinics for combined-type attention definity hyperactivity disorder in an offspring. 863 SNPs were successfully genotyped across 47 autosomal genes implicated in psychiatric disorders yielding a single nucleotide polymorphism (SNP) density of approximately one SNP per 2.5 kb. A global test of heterogeneity showed 269 SNPs nominally significant (expected 43). Inclusion of the Israeli population accounted for approximately 70% of these nom…
Pet ownership and symptoms of depression: a prospective study of older adults
2020
Abstract Background This paper aims to examine associations between pet ownership and symptoms of depression in a large, population-based sample of older adults. Specifically, we tested whether: (i) people who report more depressive symptoms are more likely to own a pet; (ii) pet ownership protects against an increase in depressive symptoms over time; (iii) associations differ by symptom type. Methods Data were drawn from the English Longitudinal Study of Ageing, a longitudinal panel study of men and women aged 50 and older (n = 7,617, 52.5% female). Pet ownership (dog/cat/other/none) was self-reported in 2010/11. Depressive symptoms were assessed in 2010/11 and 2016/17 using the 8-item cen…
Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approa…
2010
Contains fulltext : 88211.pdf (Publisher’s version ) (Closed access) OBJECTIVE: The genetic basis for autism spectrum disorder (ASD) symptoms in children with attention-deficit/hyperactivity disorder (ADHD) was addressed using a genome-wide linkage approach. METHOD: Participants of the International Multi-Center ADHD Genetics study comprising 1,143 probands with ADHD and 1,453 siblings were analyzed. The total and subscale scores of the Social Communication Questionnaire (SCQ) were used as quantitative traits for multipoint regression-based linkage analyses on 5,407 autosomal single-nucleotide polymorphisms applying MERLIN-regress software, both without and with inclusion of ADHD symptom sc…
The Choice of the Filtering Method in Microarrays Affects the Inference Regarding Dosage Compensation of the Active X-Chromosome
2011
BackgroundThe hypothesis of dosage compensation of genes of the X chromosome, supported by previous microarray studies, was recently challenged by RNA-sequencing data. It was suggested that microarray studies were biased toward an over-estimation of X-linked expression levels as a consequence of the filtering of genes below the detection threshold of microarrays.Methodology/principal findingsTo investigate this hypothesis, we used microarray expression data from circulating monocytes in 1,467 individuals. In total, 25,349 and 1,156 probes were unambiguously assigned to autosomes and the X chromosome, respectively. Globally, there was a clear shift of X-linked expressions toward lower levels…
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
2021
International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (EPHA7) encodes a member of ephrin receptor subfamily of the protein-tyrosine kinase family. EPHA7 plays a role in corticogenesis processes, determines brain size and shape, and is involved in development of the central nervous system. One patient only was reported so far with a de novo deletion encompassing EPHA7 in 6q16.1. We…