Results 81 to 90 of about 2,431,050 (332)
Routes for breaching and protecting genetic privacy
, 2013 We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases.
A Acquisti +94 more
core +1 more source
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]
, 2019 Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga +5 more
core +2 more sources
Defining Genetic Disease [PDF]
, 2014 The concept of genetic disease refers to the idea that one or more genes are the cause of disease. Under this definition, problems arise when it comes to the use of the term “cause”. Moreover, genes alone cannot explain the development of a disease; environmental causes are also at play.
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction We developed MedSupport, a multilevel medication adherence intervention designed to address root barriers to medication adherence. This study sought to explore the feasibility and acceptability of the MedSupport intervention strategies to support a future full‐scale randomized controlled trial.
Elizabeth G. Bouchard +8 more
wiley +1 more source
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]
, 2008 We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu +4 more
core +1 more source
Lifestyle Behaviors and Cardiotoxic Treatment Risks in Adult Childhood Cancer Survivors
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Higher doses of anthracyclines and heart‐relevant radiotherapy increase cardiovascular disease (CVD) risk. This study assessed CVD and CVD risk factors among adult childhood cancer survivors (CCSs) across cardiotoxic treatment risk groups and examined associations between lifestyle behaviors and treatment risks.
Ruijie Li +6 more
wiley +1 more source
Coincident onset of multiple sclerosis and herpes simplex virus 1 encephalitis. a case report [PDF]
, 2017 Background: Along with vitamin D, smoking, body mass index and others, Epstein Barr virus, other herpesviruses and human endogenous retroviruses represent plausible environmental risk factors for multiple sclerosis.
Buscarinu, M. C. +7 more
core +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Ongoing evidence indicates increased risk of sarcopenic obesity among children and young people (CYP) with acute lymphoblastic leukemia (ALL), often beginning early in treatment, persisting into survivorship. This review evaluates current literature on body composition in CYP with ALL during and after treatment.
Lina A. Zahed +5 more
wiley +1 more source
GENETICS OF AUTISTIC DISORDER (REVIEW OF FOREIGN LITERATURE)
Русский журнал детской неврологии, 2015 Autism can occur in combination with chromosomal and genetic syndromes, malformations of the brain, metabolic diseases, etc. In this regard, currently adopted the term «atypical» or «syndromic» autism – autism, which is a symptom of another disease ...
M. Yu. Bobylova, H. L. Petchatnikova
doaj +1 more source
Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. [PDF]
, 2020 The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell ...
D'Antonio, Matteo +3 more
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