Concept

Dominance (génétique)

Publications associées (90)

The shine-through masking paradigm is a potential endophenotype of schizophrenia

Background: To understand the genetics of schizophrenia, a hunt for so-called intermediate phenotypes or endophenotypes is ongoing. Visual masking has been proposed to be such an endophenotype. However, no systematic study has been conducted yet to prove t ...

Public Library of Science2010

Genetic dissection of differential signaling threshold requirements for the Wnt/beta-catenin pathway in vivo

Contributions of null and hypomorphic alleles of Apc in mice produce both developmental and pathophysiological phenotypes. To ascribe the resulting genotype-to-phenotype relationship unambiguously to the Wnt/beta-catenin pathway, we challenged the allele c ...

Public Library of Science2010

The contribution of remote sensing data for the detection of natural selection signatures in North American Grey Wolves

Sofia Samoili

The current thesis constitutes an interdisciplinary approach of detecting a selection pressure driven by the environment examining the contribution of Remote Sensing and Spatial Analysis in the field of Landscape Genetics. Even though several studies have ...

2010

Sustained Effects of Nonallele-Specific Huntingtin Silencing

Nicole Déglon

Objective: Huntington's disease (HD) is a fatal autosomal dominant neurodegenerative disorder caused by a polyglutamine expansion in the huntingtin (htt) protein. No cure is available to date to alleviate neurodegeneration. Recent studies have demonstrated ...

Wiley-Blackwell2009

Efficient oxygen transfer by surface aeration in shaken cylindrical containers for mammalian cell cultivation at volumetric scales up to 1,000 liters

Alfio Quarteroni, Florian Maria Wurm, David Hacker, Xiuwei Zhang, Nicola Parolini, Mathieu Benjamin Stettler, Marco Perrone, Dario De Sanctis

Cylindrical containers agitated by orbital shaking are being developed as simple and cost-effective bioreactor systems for the cultivation of mammalian cells. Here the oxygen transfer capacities of containers with nominal volumes from 50 mL to 2000 L were ...

2009

HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C

Jacques Fellay, Amalio Telenti

A variant 35 kb upstream of the HLA-C gene (-35C/T) was previously shown to associate with HLA-C mRNA expression level and steady-state plasma HIV RNA levels. We genotyped this variant in 1,698 patients of European ancestry with HIV. Individuals with known ...

2009

Genetic background determines metabolic phenotypes in the mouse

Johan Auwerx

To evaluate the contribution of genetic background to phenotypic variation, we compared a large range of biochemical and metabolic parameters at different ages of four inbred mice strains, C57BL/6J, 129SvPas, C3HeB/FeJ, and Balb/cByJ. Our results demonstra ...

2008

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5

Daniel Constam

We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, ren ...

2008

The Vibrio cholerae hybrid sensor kinase VieS contributes to motility and biofilm regulation by altering the cyclic diguanylate level

Anna De Graff Tischler

Phosphorelay systems are important mediators of signal transduction during bacterial adaptation to new environments. Previously we described the vieSAB operon, encoding a putative three-protein component phosphorelay involved in regulating Vibrio cholerae ...

2008

Characterization of BCR-ABL deletion mutants from patients with chronic myeloid leukemia

Oliver Hantschel

The BCR-ABL oncogenic tyrosine kinase causes chronic myeloid leukemia and is the target for imatinib therapy. During imatinib treatment, cells are selected in some patients with BCR-ABL kinase domain mutations that render decreased drug sensitivity. In add ...

Nature Publishing Group2008

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