Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of clinical laboratory analysis"
DOI: 10.1002/jcla.24459
Abstract: OBJECTIVES Wilson disease (WD) is a rare autosomal recessive genetic disorder associated with various mutations in the ATP7B gene and leads to significant disability or death if untreated. Early diagnosis and proper therapy usually predict… read more here.
Keywords: atp7b gene; studies discover; genetic studies; wilson disease ... See more keywords
Genetic Studies of Tic Disorders and Tourette Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-9554-7_32
Abstract: Tourette syndrome (TS) is a complex disorder characterized by repetitive, sudden, and involuntary movements or vocalizations, called tics. Tics usually appear in childhood, and their severity varies over time. In addition to frequent tics, people… read more here.
Keywords: studies tic; psychiatric disorders; genetic studies; disorders tourette ... See more keywords
Prospective avenues for human population genomics and disease mapping in southern Africa
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Genomics"
DOI: 10.1007/s00438-020-01684-8
Abstract: Population substructure within human populations is globally evident and a well-known confounding factor in many genetic studies. In contrast, admixture mapping exploits population stratification to detect genotype–phenotype correlations in admixed populations. Southern Africa has untapped… read more here.
Keywords: prospective avenues; avenues human; genetic studies; disease mapping ... See more keywords
Molecular Genetic Studies of Pancreatic Neuroendocrine Tumors: New Therapeutic Approaches.
Sign Up to like & getrecommendations! Published in 2018 at "Endocrinology and metabolism clinics of North America"
DOI: 10.1016/j.ecl.2018.04.007
Abstract: Pancreatic neuroendocrine tumors (PNETs) arise sporadically or as part of familial syndromes. Genetic studies of hereditary syndromes and whole exome sequencing analysis of sporadic NETs have revealed the roles of some genes involved in PNET… read more here.
Keywords: pancreatic neuroendocrine; studies pancreatic; molecular genetic; genetic studies ... See more keywords
Revolutionize Genetic Studies and Crop Improvement with High-Throughput and Genome-Scale CRISPR/Cas9 Gene Editing Technology.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular plant"
DOI: 10.1016/j.molp.2017.08.001
Abstract: Forward genetic screens have been instrumental in deciphering the molecular mechanisms that control agriculturally important traits. Traditionally, crop mutant collections are generated by chemical mutagenesis such as ethyl methanesulfonate (EMS) treatment, physical irradiation, and insertional… read more here.
Keywords: improvement high; genetic studies; revolutionize genetic; studies crop ... See more keywords
Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-00838-1
Abstract: Copy number variants (CNVs), defined as genome sequences of ≥50 bp that differ in copy number from that in a reference genome, are a common form of structural variation. Germline CNVs account for some of the… read more here.
Keywords: large scale; copy number; scale genetic; psychiatric disorders ... See more keywords
Powerful and Efficient Strategies for Genetic Association Testing of Symptom and Questionnaire Data in Psychiatric Genetic Studies
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-44046-0
Abstract: Genetic studies of psychiatric disorders often deal with phenotypes that are not directly measurable. Instead, researchers rely on multivariate symptom data from questionnaires and surveys like the PTSD Symptom Scale (PSS) and Beck Depression Inventory… read more here.
Keywords: association testing; genetic association; questionnaire data; symptom ... See more keywords
Silica-Coated Iron Oxide Nanoparticles for DNA Isolation for Molecular Genetic Studies in Hematology.
Sign Up to like & getrecommendations! Published in 2021 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2021.0067
Abstract: Aim: To develop magnetic nanoparticles (MNPs) based on iron oxide for DNA isolation from blood cells for quantitative molecular genetic analyses of the V617F mutation in the Januskinase 2 (JAK2) gene. Materials and Methods: MNPs… read more here.
Keywords: dna isolation; hematology; molecular genetic; genetic studies ... See more keywords
Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach
Sign Up to like & getrecommendations! Published in 2022 at "Transplantation"
DOI: 10.1097/tp.0000000000004363
Abstract: Background. Recent studies identified underlying genetic causes in a proportion of patients with various forms of kidney disease. In particular, genetic testing reclassified some focal segmental glomerulosclerosis (FSGS) cases into collagen type 4 (COL4)-related nephropathy.… read more here.
Keywords: incorporation genetic; kidney; genetic testing; genetic studies ... See more keywords
Genetic studies as a tool for identifying novel potential targets for treatment of COPD
Sign Up to like & getrecommendations! Published in 2017 at "European Respiratory Journal"
DOI: 10.1183/13993003.02042-2017
Abstract: Chronic obstructive pulmonary disease (COPD), characterised by chronic airflow limitation and abnormal response to noxious particles or gases [1], is currently the fourth leading cause of death worldwide [2] and the only major cause of… read more here.
Keywords: studies tool; treatment; copd; genetic studies ... See more keywords
Importance of human demographic history knowledge in genetic studies involving multi-ethnic cohorts
Sign Up to like & getrecommendations! Published in 2018 at "Wellcome Open Research"
DOI: 10.12688/wellcomeopenres.14692.3
Abstract: Paucity of data from African populations due to under-representation in human genetic studies has impeded detailed understanding of the heritable human genome variation. This is despite the fact that Africa has sizeable genetic, cultural and… read more here.
Keywords: multi ethnic; genetic studies; human demographic; demographic history ... See more keywords