Results 61 to 70 of about 236,698 (345)

An efficient and robust approach to Mendelian randomization with measured pleiotropic effects in a high-dimensional setting [PDF]

open access: yes, 2019
Valid estimation of a causal effect using instrumental variables requires that all of the instruments are independent of the outcome conditional on the risk factor of interest and any confounders. In Mendelian randomization studies with large numbers of genetic variants used as instruments, it is unlikely that this condition will be met.
arxiv   +1 more source

Prediction of Hereditary Cancers Using Neural Networks [PDF]

open access: yesarXiv, 2021
Family history is a major risk factor for many types of cancer. Mendelian risk prediction models translate family histories into cancer risk predictions based on knowledge of cancer susceptibility genes. These models are widely used in clinical practice to help identify high-risk individuals.
arxiv  

Evidence of a causal relationship between high serum adiponectin levels and increased cardiovascular mortality rate in patients with type 2 diabetes [PDF]

open access: yes, 2016
Background: Despite its beneficial role on insulin resistance and atherosclerosis, adiponectin has been repeatedly reported as an independent positive predictor of cardiovascular mortality.
Bonis, Concetta   +6 more
core   +1 more source

Clarifying Mendelian vs non-Mendelian inheritance

open access: yesGENETICS
Abstract Gregor Mendel developed the principles of segregation and independent assortment in the mid-1800s based on his detailed analysis of several traits in pea plants. Those principles, now called Mendel's laws, in fact, explain the behavior of genes and alleles during meiosis and are now understood to underlie “Mendelian inheritance”
Susan Strome   +4 more
openaire   +3 more sources

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang   +16 more
wiley   +1 more source

Bias in multivariable Mendelian randomization studies due to measurement error on exposures [PDF]

open access: yesarXiv, 2022
Multivariable Mendelian randomization estimates the causal effect of multiple exposures on an outcome, typically using summary statistics of genetic variant associations. However, exposures of interest in Mendelian randomization applications will often be measured with error. The summary statistics will therefore not be of the genetic associations with
arxiv  

AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells

open access: yesAdvanced Science, EarlyView.
Decreased sensitivity to AAV vector transduction in the outer hair cells (OHCs) of adult mice is primarily attributed to reduction of AAVR (Kiaa0319l; Au040320). Knockout of AAVR reduces AAV vector transduction efficiency in both inner hair cells (IHCs) and OHCs in neonatal mice.
Fan Wu   +8 more
wiley   +1 more source

A companion to the preclinical common data elements for rodent genetic epilepsy models. A report of the TASK3‐WG1B: Paediatric and genetic models working group of the ILAE/AES joint translational TASK force

open access: yesEpilepsia Open, EarlyView., 2022
Abstract Rodent models of epilepsy remain the cornerstone of research into the mechanisms underlying genetic epilepsy. Reproducibility of experiments using these rodent models, occurring across a diversity of laboratories and commercial vendors, remains an issue impacting the cost‐effectiveness and scientific rigor of the studies performed.
Massimo Mantegazza   +7 more
wiley   +1 more source

Systematic Mendelian randomization using the human plasma proteome to discover potential therapeutic targets for stroke

open access: yesNature Communications, 2022
Mendelian randomization can be used to mimic the effects of protein-targeting drugs in a population of individuals. Here, the authors have identified potential causal proteins for stroke in a two-sample Mendelian randomization framework, providing ...
Lingyan Chen   +18 more
doaj   +1 more source

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