Search results for "NHE"

Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences.

2009

Abstract Background: Reliable PCR amplification of DNA fragments is the prerequisite for most genetic assays. We investigated the impact of G-quadruplex– or i-motif–like sequences on the reliability of PCR-based genetic analyses. Methods: We found the sequence context of a common intronic polymorphism in the MEN1 gene (multiple endocrine neoplasia I) to be the cause of systematic genotyping errors by inducing preferential amplification of one allelic variant [allele dropout (ADO)]. Bioinformatic analyses and pyrosequencing-based allele quantification enabled the identification of the underlying DNA structures. Results: We showed that G-quadruplex– or i-motif–like sequences can reproducibly …

Genetic basis of trichome production in Arabidopsis lyrata.

2002

Leaf trichomes may protect plants against herbivorous insects, and may increase tolerance to drought and UV-radiation. The perennial herb Arabidopsis lyrata (Brassicaceae) is polymorphic for trichome production and occurs in a glabrous and trichome-producing form. In addition, there is quantitative variation in trichome density among trichome-producing plants. To examine the genetic basis of glabrousness, we conducted controlled crosses with plants originating from two natural populations in Sweden (one polymorphic for trichome-production, and one consisting of glabrous plants only). In addition, we estimated the heritability of trichome number from parent-offspring regressions for plants o…

El Derecho De La Uniin Europea Ante La Encrucijada Del Impuesto Sobre Sucesiones Y Donaciones Espaaol (EU Law Before the Crossroad of the Spanish Inh…

2014

Spanish Abstract: El articulo analiza los efectos del Derecho de la Union Europea y las libertades fundamentales sobre el impuesto sobre sucesiones y donaciones espanol, teniendo en cuenta las implicaciones y complejas relaciones que derivan de su formulacion como impuesto estatal que ha sido parcialmente cedido a las Comunidades Autonomas. El articulo analiza la posible evolucion tras la sentencia del TJUE de 3 de septiembre de 2014 (asunto C-127/12). El autor critica la argumentacion pobre del TJUE y propone un desarrollo mas consistente del contenido de las libertades fundamentales a partir de un analisis mas solido de los juicios de comparabilidad y de justificacion. El autor tambien cr…

Otto Blüh and Ernst Mach’s Legacy: Inheritance and Task

2019

Otto Bluh (1902–1981) was a professor of physics who maintained a lifelong interest in Mach and contributed actively to previous commemorations. Dozent and first assistant at the German University of Prague, he was forced into exile as a result of the German occupation and held research and academic positions in Birmingham (UK), and the universities of British Columbia (Canada) and Vanderbilt (USA). Bluh not only was a pioneer in recognizing the relevance that physics teaching had in Mach’s ideas but developed many of them, highlighting critical thinking, the importance of history and philosophy in physics, bridging specialization and bringing humanism back to science. This paper provides a…

Promoting Mobility in Older People

2013

Out-of-home mobility is necessary for accessing commodities, making use of neighborhood facilities, and participation in meaningful social, cultural, and physical activities. Mobility also promotes healthy aging as it relates to the basic human need of physical movement. Mobility is typically assessed either with standardized performance-based tests or with self-reports of perceived difficulty in carrying out specific mobility tasks. Mobility declines with increasing age, and the most complex and demanding tasks are affected first. Sometimes people cope with declining functional capacity by making changes in their way or frequency of doing these tasks, thus avoiding facing manifest difficul…

Ageing in place together : older parents and ageing offspring with intellectual disability

2020

AbstractLimited research has been conducted about ageing in place among older parents who co-habit with their ageing offspring with intellectual disability (ID). This study aims to explore which older parents would choose ageing in place together with their ageing offspring with ID instead of moving and what factors are associated with this choice. A face-to-face interview was conducted using the ‘housing pathways’ framework with older parents (⩾60 years) co-habiting with their ageing offspring with ID (⩾40 years) from two local authorities in Taiwan. In total, 237 families completed our census survey between June and September 2015. The results showed that 61.6 per cent of the participants…

Living alone, receiving help, helplessness, and inactivity are strongly related to risk of undernutrition among older home-dwelling people

2012

Solveig T Tomstad1, Ulrika Söderhamn2, Geir Arild Espnes3, Olle Söderhamn21Department of Social Work and Health Science, Faculty of Sciences and Technology Management, NTNU, Trondheim, Norway and Centre for Caring Research – Southern Norway, Faculty of Health and Sport Sciences, University of Agder, Grimstad, Norway; 2Centre for Caring Research – Southern Norway, Faculty of Health and Sport Sciences, University of Agder, Grimstad, Norway; 3Research Centre for Health Promotion and Resources HiST-NTNU, Department of Social Work and Health Science, Faculty of Social Sciences and Technology Management, NTNU, Trondheim, NorwayBackground: Being at risk of und…

Kuva, havainto ja todellisuus : todellisuudesta ja kuvasta muodostuvat havainnot sekä niiden vastaavuus kuvioiden, objektien, tilan ja syvyyden suhte…

2000

Characterization of a novel open reading frame, urf a, in the mitochondrial genome of fission yeast: correlation of urf a mutations with a mitochondr…

1991

Between the genes for tRNA(gin) and tRNA(ile) an open reading frame of 227 amino acids has been identified which is unique among known mitochondrial genomes and which has been termed urf a (Lang et al. 1983; Kornrumpf et al. 1984). It uses the "mitochondrial" genetic code, i.e., it contains a TGA codon, whereas all other protein-encoding genes, and all but one intronic open reading frame, use the "standard" genetic code (UGG for tryptophan). A previous paper has demonstrated that "mutator" strains show an increased formation of mitochondrial drug-resistant and respiration-deficient mutants (including deletions). In this paper we show that the mutator activity is correlated with mutations in…

Observatoire francophone des néoplasies endocriniennes multiples de type 1. Un outil du Groupe d'étude des Tumeurs Endocrines (GTE)

2007

Wermer's syndrome or Multiple Endocrine Neoplasia Type-1 (MEN1) is an autosomal dominant inherited disease, related to mutations in MEN1, an approximately 10-kb gene encoding menin, localized on chromosome 11q13. The Endocrine Tumor Group (GTE) has set up a MEN1 observatory of 1001 regularly followed MEN1 cases. This observatory aims at registering and evaluating MEN1 cases in a large cohort. Any new study on a particular unexplored aspect of the disease may be proposed by a physician to the GTE. This article describes the way to diagnose a new MEN1 case and to register it. Procedures for participating in a new study are presented. Some original results are quoted.