Results 101 to 110 of about 8,691,632 (395)

Incorporating prior information into association studies. [PDF]

open access: yes, 2012
UnlabelledRecent technological developments in measuring genetic variation have ushered in an era of genome-wide association studies which have discovered many genes involved in human disease.
Darnell, Gregory   +3 more
core   +3 more sources

The thioredoxin‐like and one glutaredoxin domain are required to rescue the iron‐starvation phenotype of HeLa GLRX3 knock out cells

open access: yesFEBS Letters, EarlyView.
Glutaredoxin (Grx) 3 proteins contain a thioredoxin domain and one to three class II Grx domains. These proteins play a crucial role in iron homeostasis in eukaryotic cells. In human Grx3, at least one of the two Grx domains, together with the thioredoxin domain, is essential for its function in iron metabolism.
Laura Magdalena Jordt   +4 more
wiley   +1 more source

Genetic Association Between Insulin Resistance And Total Cholesterol In Type 2 Diabetes Mellitus - A Preliminary Observation [PDF]

open access: yes, 2005
We investigated the degree of genetic association between insulin resistance (IR) with type 2 diabetes mellitus (DM) and abnormalities in lipid metabolism in 42 patients.
Gunasekara Sudari Wijewickrama   +5 more
core   +1 more source

In vivo evidence for glycyl radical insertion into a catalytically inactive variant of pyruvate formate‐lyase

open access: yesFEBS Letters, EarlyView.
Dimeric pyruvate formate‐lyase cleaves pyruvate using a radical‐based mechanism. G734 serves as a radical storage location, and the radical is transferred to the catalytic C419 residue. Mutation of the C418‐C419 pair causes loss of enzyme activity, but does not impede radical introduction onto G734. Therefore, cis‐ but not trans‐radical transfer occurs
Michelle Kammel   +2 more
wiley   +1 more source

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

open access: yesNature Genetics, 2017
Major depressive disorder (MDD) is a common illness accompanied by considerable morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide association meta-analysis based in 135,458 cases and 344,901 controls and identified ...
N. Wray   +215 more
semanticscholar   +1 more source

Association between polymorphisms in segregation genes BUB1B and TTK and gastric cancer risk

open access: yesRadiology and Oncology, 2016
Malignant transformation of normal gastric cells is a complex and multistep process, resulting in development of heterogeneous tumours. Susceptible genetic background, accumulation of genetic changes, and environmental factors play an important role in ...
Hudler Petra   +3 more
doaj   +1 more source

P‐glycoprotein modulates the fluidity gradient of the plasma membrane of multidrug resistant CHO cells

open access: yesFEBS Letters, EarlyView.
To explore the impact of the overexpression of the multidrug‐transporter P‐glycoprotein (ABCB1) on membrane fluidity, we compared the transversal gradient of mobility and microviscosity in plasma membranes of drug‐sensitive Chinese hamster ovary cells (AuxB1) and their multidrug‐resistant derivatives (B30) using the fluorescent n‐(9‐anthroyloxy) fatty ...
Roger Busche   +2 more
wiley   +1 more source

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

open access: yesNature Genetics, 2018
Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6–11.
Mengzhen Liu   +165 more
semanticscholar   +1 more source

Genetic Syndromes Associated with Craniosynostosis

open access: yesJournal of Korean Neurosurgical Society, 2016
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management.
openaire   +3 more sources

Evolutionary interplay between viruses and R‐loops

open access: yesFEBS Letters, EarlyView.
Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi   +4 more
wiley   +1 more source

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