Search results for "Dominant"
showing 10 items of 231 documents
Mutagenit�tspr�fung bestrahlter Lebensmittel mit dem ?dominant lethal test?
1973
An insgesamt 716 Ratten und 750 Mausen wurde eine mogliche mutagene Wirkung einer bestrahlten Nahrung gepruft. Fertilitat, Tragezeitdauer, Wurfgrose, Aufzuchtleistung und Geschlechtsverhaltnis zeigten in 5 aufeinanderfolgenden Rattengenerationen keine Storungen in der Reproduktionsfahigkeit an. Es konnte kein Anstieg der Misbildungsrate bei den Rattenfeten beobachtet werden. Auch die Fruchtbarkeit der mannlichen und der weiblichen Tiere der Mausegeneration war ungestort. Durch den “dominant lethal test” an Ratten und Mausen konnte keine embryotoxische oder mutagene Wirkung der bestrahlten Nahrung festgestellt werden, die sich in mit den verwendeten statistischen Methoden erfasbaren Untersch…
Hereditäre Pankreatitis - Eine klinisch relevante Ursache des Pankreaskarzinoms? -
2001
UNLABELLED Hereditary pancreatitis is an autosomal dominant disease. Recently, the genetic defect has been mapped to chromosome 7q35 and consists mainly of a point mutation in exon 3 of the cationic trypsinogen gene which causes an Arg(CGC)-His(CAC) substitution at residue 117. In patients with hereditary pancreatitis the estimated cumulative risk for pancreatic carcinoma to age 70 approaches 40 %. Thus, the role of hereditary pancreatitis in the pathogenesis of pancreatic carcinoma is of interest. PATIENTS AND METHODS DNA was extracted from peripheral blood (n = 16), fresh tumor tissue (n = 29) and formalin fixed and paraffin embedded tumor tissue (n = 5) of 50 patients with ductal adenoca…
Peptide Processing Is Critical for T-Cell Memory Inflation and May Be Optimized to Improve Immune Protection by CMV-Based Vaccine Vectors.
2016
Cytomegalovirus (CMV) elicits long-term T-cell immunity of unparalleled strength, which has allowed the development of highly protective CMV-based vaccine vectors. Counterintuitively, experimental vaccines encoding a single MHC-I restricted epitope offered better immune protection than those expressing entire proteins, including the same epitope. To clarify this conundrum, we generated recombinant murine CMVs (MCMVs) encoding well-characterized MHC-I epitopes at different positions within viral genes and observed strong immune responses and protection against viruses and tumor growth when the epitopes were expressed at the protein C-terminus. We used the M45-encoded conventional epitope HGI…
Subdominant CD8 T-Cell Epitopes Account for Protection against Cytomegalovirus Independent of Immunodomination▿ †
2008
ABSTRACTCytomegalovirus (CMV) infection continues to be a complication in recipients of hematopoietic stem cell transplantation (HSCT). Preexisting donor immunity is recognized as a favorable prognostic factor for the reconstitution of protective antiviral immunity mediated primarily by CD8 T cells. Furthermore, adoptive transfer of CMV-specific memory CD8 T (CD8-TM) cells is a therapeutic option for preventing CMV disease in HSCT recipients. Given the different CMV infection histories of donor and recipient, a problem may arise from an antigenic mismatch between the CMV variant that has primed donor immunity and the CMV variant acquired by the recipient. Here, we have used the BALB/c mouse…
Homozygous Familial Hypercholesterolemia in Spain Prevalence and Phenotype-Genotype Relationship
2016
Background— Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor ( LDLR ), apolipoprotein B ( APOB ), proprotein convertase subtilisin/kexin type 9 ( PCSK9 ), and LDL protein receptor adaptor 1 ( LDLRAP1 ). No epidemiological studies have assessed HoFH prevalence or the clinical and molecular characteristics of this condition. Here, we aimed to characterize HoFH in Spain. Methods and Results— Data were collected from the Spanish Dyslipidemia Regist…
Association of the Individual and Context Inequalities on the Breastfeeding: A Study from the Sicily Region
2019
Despite the advantages of breastfeeding being widely recognized, the economic level can have an influence on breastfeeding rates, with rich women breastfeeding longer than poor in high-income countries. In Italy, socio-economic differences affect breastfeeding start and continuation among most deprived people, such as in Southern Italy. The objective of the study was to evaluate the prevalence of the initiation and continuation of exclusive breastfeeding and its association with the levels of socio-economic deprivation in Sicily. A prospective cohort study with a two-phase survey in three breastfeeding detection times was conducted. Overall, 1,055 mothers were recruited with a mean age of 3…
Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa
2011
For dominantly inherited disorders development of gene therapies, targeting the primary genetic lesion has been impeded by mutational heterogeneity. An example is rhodopsin-linked autosomal dominant retinitis pigmentosa with over 150 mutations in the rhodopsin gene. Validation of a mutation-independent suppression and replacement gene therapy for this disorder has been undertaken. The therapy provides a means of correcting the genetic defect in a mutation-independent manner thereby circumventing the mutational diversity. Separate adeno-associated virus (AAV) vectors were used to deliver an RNA interference (RNAi)-based rhodopsin suppressor and a codon-modified rhodopsin replacement gene res…
‘Landscape of exception’: Power inequalities and ethical planning challenges in the landscape transformation of south-eastern Sicily
2021
In some marginal contexts of Southern Italy, in light of specific economic, political and social conditions, certain relationships between ‘strong powers’ and ‘weak powers’ produce a suspension of norms/rights that is, paradoxically, ‘normalised’. This creates a particular spatial variation of Agamben’s (2005) state of exception concept: the ‘landscape of exception’. With respect to the possible conditions of ‘exception’, this article describes the ‘landscape of exception’ of the greenhouse system in South-Eastern Sicily. This ‘landscape of exception’ is generated by the greenhouses, in particular those dedicated to vegetable production, through an effective mechanism of spatial manipulati…
Building Strategic Partnerships for Value Co-Creation : A Conceptual Framework for Digital Service Organizations
2023
In today’s competitive, fast-paced, and technology-driven markets, digital service organizations are increasingly forming strategic partnerships to transform their businesses, accelerate innovation opportunities, and offer customers enhanced value. How these partnerships should be built to enable value co-creation and strengthen collaboration between the partner organizations has thus become an important question for research and practice. This research develops a conceptual framework to explain value co-creation in strategic (digital service) partnerships and identifies its key enablers. We contribute to the literature by expanding our understanding of how value co-creation between partner…
The increase in maternal expression of axin1 and axin2 contribute to the zebrafish mutant ichabod ventralized phenotype.
2014
β-Catenin is a central effector of the Wnt pathway and one of the players in Ca(+)-dependent cell-cell adhesion. While many wnts are present and expressed in vertebrates, only one β-catenin exists in the majority of the organisms. One intriguing exception is zebrafish that carries two genes for β-catenin. The maternal recessive mutation ichabod presents very low levels of β-catenin2 that in turn affects dorsal axis formation, suggesting that β-catenin1 is incapable to compensate for β-catenin2 loss and raising the question of whether these two β-catenins may have differential roles during early axis specification. Here we identify a specific antibody that can discriminate selectively for β-…