نتایج جستجو برای: modifier

تعداد نتایج: 10704  

2011
Kristan A. Schneider Stephan Peischl

In this article, we study the influence of dominance on the evolution of assortative mating. We perform a population-genetic analysis of a two-locus two-allele model. We consider a quantitative trait that is under a mixture of frequency-independent stabilizing selection and density- and frequency-dependent selection caused by intraspecific competition for a continuum of resources. The trait is ...

Journal: :Genome research 2010
Insuk Lee Ben Lehner Tanya Vavouri Junha Shin Andrew G Fraser Edward M Marcotte

Most phenotypes are genetically complex, with contributions from mutations in many different genes. Mutations in more than one gene can combine synergistically to cause phenotypic change, and systematic studies in model organisms show that these genetic interactions are pervasive. However, in human association studies such nonadditive genetic interactions are very difficult to identify because ...

Composite solid propellants were prepared with and without nano-alloys (Ti-Co, Ti-Ni, Ti-Zn), where nano-alloys used as catalyst. These nano-alloys are prepared by hydrazine reduction method. Catalytic properties of these nanomaterials were measured on Ammonium perchorate/hydroxyterminatedpolybutadiene propellant by thermogravimetery analysis and differential thermal analysis. Both experimental...

2015
Hamad Ali Naser Hussain Medhat Naim Mohamed Zayed Fahd Al-Mulla Elijah O Kehinde Lauren M Seaburg Jamie L Sundsbak Peter C Harris

BACKGROUND Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. He...

Journal: :Human molecular genetics 2007
Viive M Howell Julie M Jones Sarah K Bergren Li Li Allison C Billi Matthew R Avenarius Miriam H Meisler

We originally isolated Scnm1 as a disease modifier gene that is required for efficient in vivo splicing of a mutant splice donor site in the sodium channel Scn8a. It was previously unclear whether the modifier effect on splicing was direct or indirect. We now report evidence that sodium channel modifier 1 (SCNM1) has a direct role in splicing. SCNM1 protein interacts with the spliceosome protei...

Journal: :Gut 2002
M D Crabtree I P M Tomlinson S V Hodgson K Neale R K S Phillips R S Houlston

BACKGROUND Familial adenomatous polyposis (FAP) is characterised by variable phenotypic expression. Part of this is attributable to a relationship between APC genotype and phenotype but there remains significant intrafamilial variation. In the Min mouse model of FAP, differences in the severity of gastrointestinal polyposis result from the action of modifier genes. AIMS To determine whether p...

Journal: :The Journal of General Physiology 1982
J O Wieth P J Bjerrum

This work demonstrates the existence of titratable transport and modifier sites in the anion transport system of human red cells. Effects of alkaline extracellular pH on chloride exchange were studied up to pH 13 at 0 degrees C. The studies revealed two sets of reversible titratable groups. One set, having a pK of or approximately 11, appeared to be identical with the inhibitory halide-binding ...

Journal: :Cancer research 2001
H Nagase J H Mao J P de Koning T Minami A Balmain

The development of cancer is influenced both by exposure to environmental carcinogens and by the host genetic background. Epistatic interactions between genes are important in determining phenotype in plant and animal systems and are likely to be major contributors to cancer susceptibility in humans. Several tumor modifier loci have been identified from studies of mouse models of human cancer, ...

Journal: :Coatings 2022

This study aims to prepare a graphene quantum dots (GQDs)/styrene-butadiene segmented copolymer composite (GQDs/SBS) as an asphalt modifier using the Pickering emulsion polymerization method. The physicochemical properties of GQDs/SBS and their effects on modification were investigated. In addition, was compared with pure SBS modifier. Research results demonstrated that GQDs could be evenly dis...

2016
Jorge I Vélez Dora Rivera Claudio A Mastronardi Hardip R Patel Carlos Tobón Andrés Villegas Yeping Cai Simon Easteal Francisco Lopera Mauricio Arcos-Burgos

We previously reported age of onset (AOO) modifier genes in the world's largest pedigree segregating early-onset Alzheimer's disease (AD), caused by the p.Glu280Ala (E280A) mutation in the PSEN1 gene. Here we report the results of a targeted analysis of functional exonic variants in those AOO modifier genes in sixty individuals with PSEN1 E280A AD who were whole-exome genotyped for ~250,000 var...

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