A systems medicine strategy to predict the efficacy of drugs for monogenic epilepsies
Epilepsia, Volume 63, Issue 12, Page 3125-3133, December 2022., 2022 Abstract Objective Monogenic epilepsies are rare but often severe. Because of their rarity, they are neglected by traditional drug developers. Hence, many lack effective treatments. Treatments for a disease can be discovered more quickly and economically by computationally predicting drugs that can be repurposed for it.
Basel Taweel +2 more
wiley +1 more source
Crossovers between epigenesis and epigenetics. A multicenter approach to the history of epigenetics (1901-1975) [PDF]
, 2014 The origin of epigenetics has been traditionally traced back to Conrad Hal Waddington's foundational work in 1940s. The aim of the present paper is to reveal a hidden history of epigenetics, by means of a multicenter approach.
Costa, R., Frezza, G.
core
Movement Disorders Clinical Practice, EarlyView.Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown. Objective The aim was to evaluate the frequency and phenotype of p.L1795F in early‐onset PD (EOPD) and familial PD compared to healthy controls (HC ...
Miriam Ostrozovicova +35 more
wiley +1 more source
DNA-Based Kinship Analysis [PDF]
, 2008 Relatedness between individuals and groups can be investigated using DNA markers. A child’s DNA profile is a combination of alleles passed down from the father and mother.
Maguire, Christopher, Woodward, Michael
core
Morpho -genetic variability in F 2 progeny cowpea genotypes tolerant to bruchid (Callosobruchus maculatus) [PDF]
Journal of Agricultural Sciences (Belgrade), 2019 Callosobruchus maculatus Fab. is a major threat to cowpea production reducing the quality, quantity and market value of cowpea grains. A cheap and easy identification method would be a valuable tool in identifying and breeding resistant genotypes in the ...
Amusa Oluwafemi D. +4 more
doaj
Instrumental variables estimation of exposure effects on a time-to-event response using structural cumulative survival models [PDF]
arXiv, 2016 The use of instrumental variables for estimating the effect of an exposure on an outcome is popular in econometrics, and increasingly so in epidemiology. This increasing popularity may be attributed to the natural occurrence of instrumental variables in observational studies that incorporate elements of randomization, either by design or by nature (e.g.
arxiv
An Application of Total-Colored Graphs to Describe Mutations in Non-Mendelian Genetics [PDF]
, 2019 Any gene mutation during the mitotic cell cycle of a eukaryotic cell can be algebraically represented by an isotopism of the evolution algebra describing the genetic pattern of the inheritance process.
Falcón Ganfornina, Raúl Manuel +2 more
core
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms [PDF]
, 2023 Angharad M. Roberts +25 more
openalex +1 more source
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. [PDF]
, 2019 It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene1. The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most ...
Ashley, Euan A +35 more
core
Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next
Movement Disorders, EarlyView.Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin +9 more
wiley +1 more source