Results 151 to 160 of about 444,739 (309)

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Single nucleotide polymorphism wars [PDF]

Nature Biotechnology, 1998
openaire   +3 more sources

SOX6 enhances vascular smooth muscle cell phenotypic switching and elevates blood pressure by activating autophagy

Animal Models and Experimental Medicine, EarlyView.
Sox6 expression is elevated in hypertensive conditions and promotes vascular smooth muscle cell phenotypic switching through autophagy activation. Using gain‐ and loss‐of‐function approaches both in vitro and in vivo, we demonstrate that Sox6 regulates blood pressure and vascular remodeling, highlighting its potential as a novel therapeutic target for ...
Qianhui Ling, Xilan Dong, Liyan Mao, Chengjun Huang, Linjing Cong, Haizeng Zhang, Jun Cai, Zhenzhen Chen   +7 more
wiley   +1 more source

Multiple low dose streptozotocin‐induced diabetes as a model for studying autoimmune diabetes in humans

Animal Models and Experimental Medicine, EarlyView.
Multiple low dose streptozotocin‐induced diabetes is a valuable animal model of diabetes type 1. It should be improved by further research on autoantigens, microbiota and mucosal immune cells from the gut, but also from other organs. Abstract The autoimmune response directed against pancreatic β cells is the most essential pathogenic process in type 1 ...
Ivan Koprivica, Suzana Stanisavljević, Dragica Mićanović, Ivana Stojanović, Đorđe Miljković   +4 more
wiley   +1 more source

From WGS to gels: Development and testing of PCR primers targeting toxic Digitalis in support of food safety

Applications in Plant Sciences, EarlyView.
Abstract Premise This study capitalized on a library of single‐nucleotide polymorphisms created via whole genome sequencing (WGS) to develop and test a PCR assay for detecting toxic Digitalis species in food products. Complex foods can be difficult to analyze, but safeguarding consumer well‐being and public health necessitates that products regulated ...
Elizabeth Sage Hunter, Sydnee Fo, Robert Literman, Richard H. Uva, Jennifer L. Wolny, Sara M. Handy   +5 more
wiley   +1 more source

Advancing phylogenomics in Amaranthaceae sensu stricto: Development and application of a new nuclear target enrichment bait set

Applications in Plant Sciences, EarlyView.
Abstract Premise Current phylogenies of Amaranthaceae sensu stricto (s.s.) are inadequately sampled and resolved to reflect the entire evolutionary history of the lineage, which is likely complex due to at least three whole‐genome duplication events, occasionally followed by subsequent additional polyploidization events and rapid diversification of ...
Tina Kiedaisch, Gudrun Kadereit, Anže Žerdoner Čalasan, Diego F. Morales‐Briones   +3 more
wiley   +1 more source

Honey Bee Breeding and Breed: Advancements, Challenges, and Prospects

Animal Research and One Health, EarlyView.
Our work clarifies concepts related to honey bee classification, reviews traditional and modern breeding techniques, explores advancements in molecular breeding, prospects gene‐editing tools, and advocates for integrated breeding strategies to ensure the long‐term sustainability and vitality of honey bee populations amid declining managed populations ...
Zheguang Lin, Lizhi Yang, Zhi Wang, Kang Wang, Qingsheng Niu, Ting Ji   +5 more
wiley   +1 more source

Shennong 1 Chicken 40K Liquid Chip: Advancing Genetic Research in Chinese Indigenous Chickens

Animal Research and One Health, EarlyView.
Based on comprehensive genomic data of Chinese indigenous chickens, we developed a specialized genotyping array for this population. Comparative analyses with published mainstream arrays and evaluations, including genetic assessment of diverse chicken types and gene mining analyses, demonstrated its superior applicability to Chinese indigenous chickens.
Chaoqun Gao, Chenxi Zhang, Kaiyuan Tian, Shucan Zhao, Yongle Xue, Sensen Yan, Chengpeng Xiao, Donghua Li, Guirong Sun, Ruili Han, Ruirui Jiang, Yadong Tian, Wenting Li, Kejun Wang, Xiangtao Kang   +14 more
wiley   +1 more source