Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.07.008
Abstract: Newborn screening is an incredibly useful tool for the early identification of many metabolic disorders, including fatty acid oxidation (FAO) disorders. In many cases, molecular tests are necessary to reach a final diagnosis, highlighting the… read more here.
Keywords: fatty acid; evidence; clinical validity; acid oxidation ... See more keywords
Exposure to a single immobilization or lipopolysaccharide challenge increases expression of genes implicated in the development of Alzheimer’s disease in the mice brain cortex
Sign Up to like & getrecommendations! Published in 2019 at "Endocrine Regulations"
DOI: 10.2478/enr-2019-0012
Abstract: Abstract Objectives. Despite extensive research efforts, mechanisms participating on development of Alzheimer’s disease (AD) are covered only partially. Data from the last decades indicate that various stressors, as etiological factors, may play a role of… read more here.
Keywords: expression genes; genes implicated; brain; development alzheimer ... See more keywords
T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2020.01837
Abstract: Combined Immunodeficiencies (CID) are rare congenital disorders characterized by defective T-cell development that may be associated with B- and NK-cell deficiency. They are usually due to alterations in genes expressed in hematopoietic precursors but in… read more here.
Keywords: thymic development; immunodeficiencies congenital; cell immunodeficiencies; syndrome ... See more keywords